CDON

Summary

CDON (cell adhesion associated, oncogene regulated, HGNC:17104) is a protein-coding gene on chromosome 11q24.2, encoding Cell adhesion molecule-related/down-regulated by oncogenes (Q4KMG0). Together with BOC, forms a coreceptor required for sonic hedgehog (SHH) handoff to its patched receptor (PTCH1 or PTCH2), thereby allowing activation of the smoothened signaling pathway.

This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis.

Source: NCBI Gene 50937 — RefSeq curated summary.

At a glance

• Gene–disease (curated): holoprosencephaly 11 (Definitive, GenCC) — +1 more curated relationship
• GWAS associations: 11
• Clinical variants (ClinVar): 844 total — 4 pathogenic, 2 likely-pathogenic (top 4% of genes corpus-wide)
• GTEx eGene: eQTL in 36 tissues, sQTL in 9 (q < 0.05)
• Phenotypes (HPO): 133
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.73 (unconstrained)
• MANE Select transcript: NM_001378964

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17104
Approved symbol	CDON
Name	cell adhesion associated, oncogene regulated
Location	11q24.2
Locus type	gene with protein product
Status	Approved
Aliases	ORCAM, CDO, CDON1, Ihog
Ensembl gene	ENSG00000064309
Ensembl biotype	protein_coding
OMIM	608707
Entrez	50937

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 14 protein_coding, 10 retained_intron, 4 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

MANE Select: ENST00000531738

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 3, TSL 5: 2

ENST00000531738, ENST00000263577, ENST00000392693, ENST00000525625, ENST00000531830, ENST00000680589, ENST00000682450, ENST00000682556, ENST00000682796, ENST00000682834, ENST00000683026, ENST00000683416, ENST00000683597, ENST00000683716, ENST00000683981, ENST00000684078, ENST00000684167, ENST00000684238, ENST00000684564, ENST00000684636, ENST00000919649, ENST00000919650, ENST00000919651, ENST00000919652, ENST00000919653, ENST00000961444, ENST00001115002, ENST00001115003, ENST00001129457, ENST00001141874

RefSeq mRNA: 9 — MANE Select: NM_001378964 NM_001243597, NM_001378964, NM_001441161, NM_001441162, NM_001441163, NM_001441164, NM_001441165, NM_001441166, NM_016952

CCDS: CCDS58192, CCDS8468

Canonical transcript exons

ENST00000531738 — 20 exons

Exon	Start	End
ENSE00000749572	125961724	125961998
ENSE00000991231	126015241	126015510
ENSE00000991234	126003902	126004076
ENSE00000991235	126001719	126001850
ENSE00000991236	125997207	125997410
ENSE00000991237	125994871	125995052
ENSE00000991239	125989637	125989759
ENSE00000991240	125983872	125984093
ENSE00000991241	125981049	125981329
ENSE00000991242	125978304	125978383
ENSE00001384670	126023401	126023537
ENSE00001695557	125994284	125994389
ENSE00002199460	126062579	126062866
ENSE00003474338	126021248	126021520
ENSE00003621923	126017088	126017375
ENSE00003623102	126018330	126018473
ENSE00003632475	126005759	126006057
ENSE00003682232	126010341	126010694
ENSE00003791108	126019619	126019765
ENSE00003914096	125956821	125961105

Expression profiles

Bgee: expression breadth ubiquitous, 222 present calls, max score 99.14.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.8691 / max 139.7566, expressed in 1005 samples.

Highest expression (Bgee): ventricular zone, ganglionic eminence, calcaneal tendon, germinal epithelium of ovary, synovial joint.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CDON is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 36 tissues and its splicing (sQTL) in 9 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 45 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Brain Cerebellum	eqtl	5.1e-49	+0.81	11:125976398:T:C
Brain Cerebellar Hemisphere	eqtl	7.3e-36	+0.51	11:125976398:T:C
Brain Frontal Cortex BA9	eqtl	1.8e-30	+0.56	11:125976398:T:C
Brain Cortex	eqtl	2.1e-28	+0.63	11:125976398:T:C
Nerve Tibial	eqtl	1.5e-19	+0.20	11:125976398:T:C
Thyroid	eqtl	1.1e-17	+0.51	11:125973456:G:A
Brain Hypothalamus	eqtl	6.0e-15	+0.32	11:125976398:T:C
Thyroid	sqtl	1.6e-14	-0.81	11:125975754:A:C
Esophagus Muscularis	eqtl	2.2e-13	+0.42	11:125975754:A:C
Brain Anterior cingulate cortex BA24	eqtl	4.4e-13	+0.42	11:125975441:G:GTAATAGTATT
Brain Nucleus accumbens basal ganglia	eqtl	3.5e-12	+0.35	11:125976398:T:C
Adipose Visceral Omentum	sqtl	3.7e-11	-0.98	11:125975754:A:C
Esophagus Mucosa	eqtl	6.1e-11	+0.49	11:125973456:G:A
Skin Sun Exposed Lower leg	eqtl	1.6e-10	+0.35	11:125975754:A:C
Pancreas	eqtl	2.1e-10	+0.64	11:125975754:A:C
Brain Hippocampus	eqtl	6.7e-08	+0.37	11:125976398:T:C
Adipose Visceral Omentum	eqtl	1.5e-07	+0.24	11:125975754:A:C
Brain Caudate basal ganglia	eqtl	4.3e-07	+0.30	11:125976398:T:C
Cells Cultured fibroblasts	eqtl	8.9e-07	+0.11	11:126105787:G:A
Skin Not Sun Exposed Suprapubic	eqtl	3.9e-06	+0.32	11:125975754:A:C

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
123013	3.4914	951
123014	0.3777	199

Top tissues by expression

showing 100 of 281 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	99.14	gold quality
ganglionic eminence	UBERON:0004023	96.06	gold quality
calcaneal tendon	UBERON:0003701	93.27	gold quality
germinal epithelium of ovary	UBERON:0001304	92.88	gold quality
synovial joint	UBERON:0002217	92.87	gold quality
parietal pleura	UBERON:0002400	92.64	gold quality
left uterine tube	UBERON:0001303	90.84	gold quality
skin of hip	UBERON:0001554	88.71	gold quality
ovary	UBERON:0000992	88.27	gold quality
cortical plate	UBERON:0005343	88.20	gold quality
right ovary	UBERON:0002118	87.67	gold quality
left ovary	UBERON:0002119	87.57	gold quality
tendon	UBERON:0000043	87.37	gold quality
tendon of biceps brachii	UBERON:0008188	86.63	gold quality
smooth muscle tissue	UBERON:0001135	85.91	gold quality
thyroid gland	UBERON:0002046	85.71	gold quality
cerebellar hemisphere	UBERON:0002245	85.67	gold quality
cerebellar cortex	UBERON:0002129	85.62	gold quality
cartilage tissue	UBERON:0002418	85.59	gold quality
left lobe of thyroid gland	UBERON:0001120	85.55	gold quality
right lobe of thyroid gland	UBERON:0001119	85.40	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.14	gold quality
right hemisphere of cerebellum	UBERON:0014890	85.07	gold quality
body of uterus	UBERON:0009853	84.35	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.28	gold quality
upper leg skin	UBERON:0004262	84.23	gold quality
cerebellum	UBERON:0002037	84.07	gold quality
gall bladder	UBERON:0002110	84.00	gold quality
muscle layer of sigmoid colon	UBERON:0035805	83.32	gold quality
omental fat pad	UBERON:0010414	83.24	gold quality
peritoneum	UBERON:0002358	83.23	gold quality
decidua	UBERON:0002450	83.12	gold quality
adipose tissue of abdominal region	UBERON:0007808	83.06	gold quality
pleura	UBERON:0000977	82.99	gold quality
colonic epithelium	UBERON:0000397	82.69	gold quality
islet of Langerhans	UBERON:0000006	81.51	gold quality
embryo	UBERON:0000922	81.12	gold quality
tibia	UBERON:0000979	80.87	gold quality
skin of abdomen	UBERON:0001416	80.51	gold quality
adipose tissue	UBERON:0001013	79.41	gold quality
connective tissue	UBERON:0002384	79.28	gold quality
zone of skin	UBERON:0000014	79.02	gold quality
skin of leg	UBERON:0001511	78.49	gold quality
subcutaneous adipose tissue	UBERON:0002190	78.49	gold quality
bronchial epithelial cell	CL:0002328	78.24	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	77.43	gold quality
endocervix	UBERON:0000458	77.34	gold quality
myometrium	UBERON:0001296	77.28	gold quality
ectocervix	UBERON:0012249	76.98	gold quality
adrenal tissue	UBERON:0018303	76.93	gold quality
lower esophagus muscularis layer	UBERON:0035833	76.75	gold quality
lower esophagus	UBERON:0013473	76.68	gold quality
layer of synovial tissue	UBERON:0007616	75.95	gold quality
right atrium auricular region	UBERON:0006631	75.67	gold quality
cauda epididymis	UBERON:0004360	75.51	gold quality
palpebral conjunctiva	UBERON:0001812	75.30	gold quality
cardiac atrium	UBERON:0002081	74.58	gold quality
epithelium of bronchus	UBERON:0002031	74.31	gold quality
thoracic mammary gland	UBERON:0005200	73.90	gold quality
mucosa of stomach	UBERON:0001199	73.81	gold quality
mammary gland	UBERON:0001911	73.62	gold quality
female reproductive system	UBERON:0000474	73.56	gold quality
fallopian tube	UBERON:0003889	73.53	gold quality
bronchus	UBERON:0002185	73.46	gold quality
mammary duct	UBERON:0001765	71.87	gold quality
right coronary artery	UBERON:0001625	71.82	gold quality
tibial nerve	UBERON:0001323	71.74	gold quality
mucosa of paranasal sinus	UBERON:0005030	71.26	gold quality
eye	UBERON:0000970	71.14	gold quality
pericardium	UBERON:0002407	70.87	gold quality
heart	UBERON:0000948	70.79	gold quality
visceral pleura	UBERON:0002401	70.64	gold quality
stromal cell of endometrium	CL:0002255	70.56	gold quality
colon	UBERON:0001155	70.29	gold quality
right uterine tube	UBERON:0001302	70.25	gold quality
pancreas	UBERON:0001264	70.23	gold quality
thoracic aorta	UBERON:0001515	70.02	gold quality
left coronary artery	UBERON:0001626	69.99	gold quality
ascending aorta	UBERON:0001496	69.98	gold quality
stomach	UBERON:0000945	69.94	gold quality
rectum	UBERON:0001052	69.93	gold quality
esophagus	UBERON:0001043	69.84	gold quality
vagina	UBERON:0000996	69.79	gold quality
epithelium of mammary gland	UBERON:0003244	69.76	gold quality
descending thoracic aorta	UBERON:0002345	69.67	gold quality
large intestine	UBERON:0000059	69.53	gold quality
adenohypophysis	UBERON:0002196	69.45	gold quality
coronary artery	UBERON:0001621	69.39	gold quality
fundus of stomach	UBERON:0001160	69.36	gold quality
urinary bladder	UBERON:0001255	69.15	gold quality
uterine cervix	UBERON:0000002	69.08	gold quality
sural nerve	UBERON:0015488	68.96	gold quality
heart left ventricle	UBERON:0002084	68.95	gold quality
uterus	UBERON:0000995	68.87	gold quality
apex of heart	UBERON:0002098	68.68	gold quality
intestine	UBERON:0000160	68.44	gold quality
cardiac ventricle	UBERON:0002082	68.44	gold quality
transverse colon	UBERON:0001157	68.39	gold quality
pituitary gland	UBERON:0000007	68.36	gold quality
caput epididymis	UBERON:0004358	68.26	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.42
E-MTAB-6108	no	225.85

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 75 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Ovary	tissue	13.5
Smooth muscle	tissue	11.8
Thyroid gland	tissue	11.6
Skin 1	tissue	9.2
Retina	tissue	6.1
Amygdala	tissue	5.9
Endometrium 1	tissue	5.6
Olfactory bulb	tissue	5.5
Fallopian tube	tissue	5.2
Superior colliculi	tissue	5.1
Cerebellum	tissue	4.4
Spinal cord	tissue	4.4
Hippocampal formation	tissue	4.3
Basal ganglia	tissue	3.9
Cerebral cortex	tissue	3.8
Temporal cortex	tissue	3.8
Entorhinal cortex	tissue	3.4
Ventral forebrain	tissue	3.4
Choroid plexus	tissue	3.3
Insular cortex	tissue	3.3
Breast	tissue	3.2
Gallbladder	tissue	3.2
Postcentral gyrus	tissue	3.2
Retrosplenial and cingulate cortex	tissue	3.2
Retrosplenial cortex	tissue	3.1
Adipose tissue	tissue	3.0
Nucleus accumbens	tissue	3.0
Septum	tissue	3.0
Caudate putamen	tissue	3.0
Putamen	tissue	2.9
Prefrontal cortex	tissue	2.8
Motor cortex	tissue	2.8
Testis	tissue	2.2
Somatosensory cortex	tissue	2.2
Seminal vesicle	tissue	2.1
Hippocampus	tissue	2.1
Corpus callosum	tissue	2.1
Occipital cortex	tissue	2.1
Frontal cortex	tissue	2.0
Locus coeruleus	tissue	2.0
Placenta	tissue	1.8
Heart muscle	tissue	1.7
Parathyroid gland	tissue	1.7
Epididymis	tissue	1.7
Thymus	tissue	1.7
Hypothalamus	tissue	1.6
Lung	tissue	1.6
Cervix	tissue	1.5
Tongue	tissue	1.5
Midbrain	tissue	1.4
Substantia nigra	tissue	1.4
Periaqueductal gray	tissue	1.4
Medulla oblongata	tissue	1.3
Pons	tissue	1.2
Rectum	tissue	1.1
Thalamus	tissue	1.1
Tonsil	tissue	1.1
Appendix	tissue	1.1
Esophagus	tissue	1.0
Colon	tissue	1.0

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Cerebellar cortex (23.1), Flocculonodular lobe (22.9), Vermis (20.7), Dorsal spinal cord (4.4), Dorsal hippocampus (4.3).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CDON by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 145 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-548AW	99.99	72.57	3559
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-495-3P	99.96	72.81	4197

Functional genomics

gnomAD constraint: pLI 4.88e-12, LOEUF 0.733, missense Z 1.77 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000531738 — one region, missense o/e 0.93.

Literature-anchored findings (GeneRIF, showing 14)

• Targeted inactivation of Cdon in the mouse results in mild holoprosencephaly, suggesting a link to signaling pathways that control midline development such as the Sonic hedgehog pathway. (PMID:12620190)
• CDO and BOC forms complexes with specific cadherins that mediate some of the promyogenic effects of cell-cell contact. (PMID:12634428)
• CDO and BOC play a role in differentiation of cells in the skeletal muscle lineage (PMID:12720294)
• Hedgehog proteins interact with cell adhesion molecule, down-regulated by oncogenes (CDO) and brother of CDO (BOC) in a conserved manner (PMID:20519495)
• CDON must associate with both ligand and other hedgehog-receptor components, particularly PTCH1, for signaling to occur and disruption of the latter interactions is a mechanism of holoprosencephaly. (PMID:21802063)
• We found that CDON is overexpressed in prostate cancer (PMID:21849809)
• Mutations in the CDON cause holoprosencephaly. (Review) (PMID:22326621)
• Single-nucleotide polymorphism in CDON is associated with biochemical recurrence in prostate cancer. (PMID:24740842)
• These data support the view that cell-adhesion molecule-related/downregulated by oncogenes (CDON) acts as a tumor suppressor in neuroblastomas, and that CDON is tightly regulated by miRNAs. (PMID:25313246)
• CDO is required for proliferation and survival of lung cancer cells via Hh signaling. (PMID:25369201)
• We identified a novel heterozygous nonsense CDON mutation in a case of Pituitary Stalk Interruption Syndrome who presented with neonatal hypoglycemia and cholestasis (PMID:26529631)
• Compound heterozygous splicing CDON variants result in isolated ocular coloboma. (PMID:32729136)
• Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population. (PMID:32799327)
• Cdon suppresses vascular smooth muscle calcification via repression of the Wnt/Runx2 Axis. (PMID:36609601)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cdon	ENSDARG00000061328
mus_musculus	Cdon	ENSMUSG00000038119
rattus_norvegicus	Cdon	ENSRNOG00000011789

Paralogs (36): CNTN1 (ENSG00000018236), NEO1 (ENSG00000067141), SDK2 (ENSG00000069188), IGSF9B (ENSG00000080854), IGSF9 (ENSG00000085552), NRCAM (ENSG00000091129), MXRA5 (ENSG00000101825), IGDCC4 (ENSG00000103742), CNTN3 (ENSG00000113805), IGSF21 (ENSG00000117154), CNTN6 (ENSG00000134115), CHL1 (ENSG00000134121), PTPRQ (ENSG00000139304), CNTN4 (ENSG00000144619), BOC (ENSG00000144857), SDK1 (ENSG00000146555), HMCN2 (ENSG00000148357), NCAM1 (ENSG00000149294), CNTN5 (ENSG00000149972), IGSF10 (ENSG00000152580), ROBO4 (ENSG00000154133), ROBO3 (ENSG00000154134), NCAM2 (ENSG00000154654), VCAM1 (ENSG00000162692), NFASC (ENSG00000163531), PRTG (ENSG00000166450), ROBO1 (ENSG00000169855), DSCAM (ENSG00000171587), IGDCC3 (ENSG00000174498), VSIG10 (ENSG00000176834), DSCAML1 (ENSG00000177103), CNTN2 (ENSG00000184144), ROBO2 (ENSG00000185008), VSIG10L (ENSG00000186806), DCC (ENSG00000187323), L1CAM (ENSG00000198910)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1926387) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 38 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal premaxilla morphology	2
small basisphenoid bone	2
basisphenoid bone foramen	2
holoprosencephaly	2
abnormal craniofacial morphology	1
absent maxillary shelf	1
domed cranium	1
abnormal maxilla morphology	1
weakness	1
abnormal forebrain morphology	1
abnormal cerebral cortex morphology	1
abnormal brain ventricle morphology	1
decreased body size	1
abnormal blood vessel morphology	1
hydrocephaly	1
hemorrhage	1
premature death	1
abnormal nose morphology	1
abnormal craniofacial development	1
abnormal maxillary shelf morphology	1
absent upper incisors	1
abnormal neuronal precursor proliferation	1
thin cerebral cortex	1
enlarged lateral ventricles	1
abnormal palate development	1

+13 more (showing top 25).

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Drosophila grimshawi	B4JEF2	80.0%	Diamond
Xenopus laevis	Q90Z04	55.3%	Diamond
Caenorhabditis elegans	Q9N5Z2	44.7%	Diamond
Drosophila melanogaster	Q09024	37.5%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
DDX25-AS1	ncRNA	139281642
DDX25	protein-coding	29118
VSIG10L2	protein-coding	338667
HYLS1	protein-coding	219844
PUS3	protein-coding	83480
LINC03136	ncRNA	124902781

Protein

Protein identifiers

Cell adhesion molecule-related/down-regulated by oncogenes — Q4KMG0 (reviewed: Q4KMG0)

All UniProt accessions (5): A0A804HKV0, A0A804HL16, E9PN78, Q4KMG0, H0YCZ4

UniProt curated annotations — full annotation on UniProt →

Function. Together with BOC, forms a coreceptor required for sonic hedgehog (SHH) handoff to its patched receptor (PTCH1 or PTCH2), thereby allowing activation of the smoothened signaling pathway. Binds to the dually lipid-modified Sonic hedgehog protein N-product (ShhN) downstream of SCUBE2 carrier and promotes its release to GAS1. ShhN is then directly transferred to patched receptor by GAS1. May also mediate cell-cell interactions between muscle precursor cells, promoting differentiation of myogenic cells.

Subunit / interactions. Heterodimer; heterodimerizes with BOC to form a functional complex. Component of a complex composed of BOC, CDON, NEO1, cadherins and CTNNB1. Interacts with NTN3. Interacts with PTCH1. Interacts with GAS1. Interacts with DHH, IHH and SHH.

Subcellular location. Cell membrane.

Disease relevance. Holoprosencephaly 11 (HPE11) [MIM:614226] A form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. It is a genetically and clinically heterogeneous disorder with a wide spectrum of severity, ranging from alobar holoprosencephaly with severe facial abnormalities, such as cyclopia and proboscis, to mild forms that include lobar or microform holoprosencephaly, without cerebral malformations and with mild craniofacial defects. HPE11 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q4KMG0-1	1	yes
Q4KMG0-2	2

RefSeq proteins (9): NP_001230526, NP_001365893, NP_001428090, NP_001428091, NP_001428092, NP_001428093, NP_001428094, NP_001428095, NP_058648 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR003961	FN3_dom	Domain
IPR007110	Ig-like_dom	Domain
IPR013098	Ig_I-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036116	FN3_sf	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily

Pfam: PF00041, PF07679, PF13927

UniProt features (58 total): sequence variant 10, glycosylation site 9, domain 8, strand 8, disulfide bond 5, sequence conflict 5, region of interest 3, helix 3, topological domain 2, signal peptide 1, chain 1, compositionally biased region 1, transmembrane region 1, splice variant 1

Structure

Experimental structures (PDB)

3 structures by resolution:

PDB	Title	Method	Resolution (Å)
3N1F	Crystal Structure of IhhN bound to CDOFn3	X-RAY DIFFRACTION	1.6
3D1M	Crystal Structure of Sonic Hedgehog Bound to the third FNIII domain of CDO	X-RAY DIFFRACTION	1.7
3N1Q	Crystal Structure of DhhN bound to CDOFn3	X-RAY DIFFRACTION	2.89

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q4KMG0-F1	62.62	0.11

Human Protein Atlas

Protein class: Predicted membrane proteins, Disease related genes, Human disease related genes, Congenital malformations, Congenital malformations of the nervous system

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH uncertain

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (5)

Type	Positions
Disulfide bond	50–97, 141–191, 243–290, 333–380, 426–500

Glycosylation sites (9)

Type	Positions
N-linked (glcnac…) asparagine	88, 100, 180, 287, 294, 342, 427, 570, 873

Function

Pathways and Gene Ontology

Reactome pathways

2 curated (TAS) of 7; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

7 pathways:

ID	Pathway	Evidence
R-HSA-5635838	Activation of SMO	curated
R-HSA-5632681	Ligand-receptor interactions	curated
R-HSA-1266738	Developmental Biology	—
R-HSA-5632684	Hedgehog ‘on’ state	—
R-HSA-525793	Myogenesis	electronic
R-HSA-162582	Signal Transduction	—
R-HSA-5358351	Signaling by Hedgehog	—

MSigDB gene sets: 534 (showing top): WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GOBP_BODY_MORPHOGENESIS, WANG_CLIM2_TARGETS_UP, GOBP_REGULATION_OF_SKELETAL_MUSCLE_TISSUE_DEVELOPMENT, GOBP_MUSCLE_TISSUE_DEVELOPMENT, MYOGENIN_Q6, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY

GO Biological Process (8): cell adhesion (GO:0007155), smoothened signaling pathway (GO:0007224), nervous system development (GO:0007399), negative regulation of biomineral tissue development (GO:0070168), cellular response to vitamin D (GO:0071305), negative regulation of canonical Wnt signaling pathway (GO:0090090), cell-cell adhesion (GO:0098609), positive regulation of smoothened signaling pathway (GO:0045880)

GO Molecular Function (3): coreceptor activity (GO:0015026), protein binding (GO:0005515), protein carrier activity (GO:0140597)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

4 top-level categories:

Category	Pathways
Hedgehog ‘on’ state	2
Developmental Biology	1
Signal Transduction	1
Signaling by Hedgehog	1

GO top-level categories

24 GO namespaces:

Category	Terms
cellular process	1
cell surface receptor signaling pathway	1
system development	1
animal gross anatomical part developmental process	1
biomineral tissue development	1
negative regulation of developmental process	1
regulation of biomineral tissue development	1
response to vitamin D	1
cellular response to vitamin	1
cellular response to lipid	1
cellular response to oxygen-containing compound	1
negative regulation of Wnt signaling pathway	1
canonical Wnt signaling pathway	1
regulation of canonical Wnt signaling pathway	1
cell adhesion	1
smoothened signaling pathway	1
regulation of smoothened signaling pathway	1
positive regulation of signal transduction	1
signaling receptor activity	1
binding	1
molecular carrier activity	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 2 of 13 annotations. The rest are phylogenetic / computational / electronic (IEA).

2 experimentally-supported GO terms:

GO term	NS	Evidence
smoothened signaling pathway	BP	mutant phenotype
coreceptor activity	MF	mutant phenotype

Protein interactions and networks

STRING

showing 15 of 680 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CDON	GAS1	P54826	916
CDON	SHH	Q15465	832
CDON	PTCH1	Q13635	775
CDON	TNNT1	P13805	758
CDON	SMO	Q99835	693
CDON	GLI2	P10070	692
CDON	CDH2	P19022	629
CDON	DISP1	Q96F81	614
CDON	HHIP	Q96QV1	530
CDON	GLI1	P08151	528
CDON	SCUBE2	Q9NQ36	511
CDON	SUFU	Q9UMX1	484
CDON	IHH	Q14623	470
CDON	GLI3	P10071	461
CDON	MYOD1	P15172	431

IntAct

Human interaction partners of CDON in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

4 partners by confidence:

Partner	Interaction type	MIscore	Records
DHH	direct interaction	0.560	2
ABL1	physical association	0.520	2
IHH	direct interaction	0.440	1
PTCH1	physical association	0.400	2

BioGRID (31 interactions; top human partners by supporting records): CEACAM21 (Affinity Capture-MS; 3 records), BOC (Affinity Capture-Western; 2 records), PCDH12 (Affinity Capture-MS; 2 records), PCDHGB1 (Affinity Capture-MS; 2 records), PVR (Affinity Capture-MS; 2 records), SLC39A5 (Affinity Capture-MS; 2 records), TNFSF8 (Affinity Capture-MS; 2 records), ABL1 (Two-hybrid), ARL14 (Proximity Label-MS), BMPR1A (Proximity Label-MS), BSG (Proximity Label-MS), CDH15 (Affinity Capture-Western), CDH2 (Affinity Capture-Western), CTLA4 (Affinity Capture-MS), CTNNB1 (Affinity Capture-Western)

SIGNOR signaling

showing 10 of 11 signaling interactions:

A	Effect	B	Mechanism
CDON	“form complex”	CDON/SPAG9	binding
CDON	“up-regulates activity”	SPAG9	binding
CDH2	up-regulates	CDON	binding
CDON	“up-regulates activity”	BNIP2	binding
CDON	“up-regulates activity”	MAPK14	binding
CDON	“up-regulates activity”	ABL1	binding
CDH15	“up-regulates activity”	CDON	binding
CDON	“form complex”	CDON/BOC/PTCH1	binding
CDON	unknown	MAP3K5	binding
CDON	unknown	MAP3K7	binding

Protein complexes (CORUM) (2)

Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).

2 complexes by size:

Complex	Subunits	Members
CDON-PTCH1 complex	2	CDON, PTCH1
BOC-CDON complex	2	BOC, CDON

Ligand–receptor pairs (CellPhoneDB) (2)

Curated ligand–receptor partners (cell-cell communication), distinct from the protein–protein interactions above.

2 ligand–receptor pairs:

Partner	This gene’s role	Signaling class
PTCH2;CDON		Signaling by Sonic hedgehog
PTCH1;CDON		Signaling by Indian hedgehog

Disease & clinical

Genetic variants

Variant evidence for CDON: 844 ClinVar records (6 pathogenic / likely pathogenic); 11 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

844 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	2
Uncertain significance	457
Likely benign	159
Benign	155

Top pathogenic / likely-pathogenic (6)

Showing all 6 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
978570	NM_001378964.1(CDON):c.2764G>A (p.Glu922Lys)	Pathogenic	criteria provided, single submitter	1
30747	NM_001378964.1(CDON):c.2065C>G (p.Pro689Ala)	Likely pathogenic	criteria provided, single submitter	2
30748	NM_001378964.1(CDON):c.2339T>A (p.Val780Glu)	Pathogenic	no assertion criteria provided	1
30749	NM_001378964.1(CDON):c.2368A>G (p.Thr790Ala)	Pathogenic	no assertion criteria provided	1
637955	NM_001378964.1(CDON):c.622C>T (p.Arg208Ter)	Likely pathogenic	no assertion criteria provided	1
812909	Single allele	Pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore CDON’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 31 predictions of 2,080):

Position(s)	Effect	Δscore	Sites
11:125961675	donor_gain	1.0000
11:125961717	donor_gain	1.0000
11:125983870–125983871	donor_loss	1.0000	5
11:125984094–125984095	acceptor_loss	1.0000	6
11:125984098	acceptor_gain	1.0000
11:125984103–125984105	acceptor_gain	1.0000	2
11:125989635–125989636	donor_loss	1.0000	5
11:125989760–125989761	acceptor_loss	1.0000	5
11:125994282–125994283	donor_loss	1.0000	4
11:125997228	donor_gain	1.0000

AlphaMissense

1,291 missense substitutions predicted likely pathogenic (of 4,216 scored), across 370 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
F793	8	0.966	1.000
F671	8	0.948	0.997
N799	8	0.937	0.998
S807	8	0.851	0.991
D880	8	0.749	0.869
W766	7	0.993	0.999
W847	7	0.993	1.000
W741	7	0.992	0.999
F754	7	0.987	0.998
C1111	7	0.983	0.992
C1108	7	0.981	0.994
C1114	7	0.979	0.990
F862	7	0.977	0.997
C1120	7	0.965	0.984
W628	7	0.959	0.993
R794	7	0.934	0.989
W1249	7	0.928	0.988
W888	7	0.920	0.976
F907	7	0.910	0.982
E757	7	0.902	0.963

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Disease associations

OMIM: gene MIM:608707 | disease phenotypes: MIM:614226, MIM:188025

GenCC curated gene-disease

2 curated gene-disease records:

Disease	Classification	Inheritance	Records
holoprosencephaly 11	Definitive	Autosomal dominant	4
pituitary stalk interruption syndrome	Supportive	Autosomal dominant

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (10 panels, 9 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

10 panels:

Panel	Rating
Cerebral malformation	green
DDG2P	green
Fetal anomalies	green
Holoprosencephaly	green
Hypotonic infant	green
Intellectual disability	green
Leukodystrophy, childhood onset	green
Paediatric disorders	green
Structural eye disease	green
Pituitary hormone deficiency	amber

Mondo (4): holoprosencephaly 11 (MONDO:0013642), coloboma (MONDO:0001476), Paris-Trousseau thrombocytopenia (MONDO:0008557), pituitary stalk interruption syndrome (MONDO:0019828)

Orphanet (4): Holoprosencephaly (Orphanet:2162), OBSOLETE: Ocular coloboma (Orphanet:194), Paris-Trousseau thrombocytopenia (Orphanet:851), Pituitary stalk interruption syndrome (Orphanet:95496)

HPO phenotypes

showing 60 of 133 phenotypes (HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000028	Cryptorchidism
HP:0000062	Ambiguous genitalia
HP:0000104	Renal agenesis
HP:0000119	Abnormality of the genitourinary system
HP:0000161	Median cleft upper lip
HP:0000175	Cleft palate
HP:0000193	Bifid uvula
HP:0000202	Orofacial cleft
HP:0000218	High palate
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000322	Short philtrum
HP:0000407	Sensorineural hearing impairment
HP:0000446	Narrow nasal bridge
HP:0000453	Choanal atresia
HP:0000457	Depressed nasal ridge
HP:0000463	Anteverted nares
HP:0000478	Abnormality of the eye
HP:0000486	Strabismus
HP:0000520	Proptosis
HP:0000574	Thick eyebrow
HP:0000601	Hypotelorism
HP:0000612	Iris coloboma
HP:0000664	Synophrys
HP:0000708	Atypical behavior
HP:0000716	Depression
HP:0000736	Short attention span
HP:0000737	Irritability
HP:0000739	Anxiety
HP:0000741	Apathy
HP:0000772	Abnormal rib morphology
HP:0000786	Primary amenorrhea
HP:0000818	Abnormality of the endocrine system
HP:0000821	Hypothyroidism
HP:0000823	Delayed puberty
HP:0000824	Decreased response to growth hormone stimulation test
HP:0000826	Precocious puberty
HP:0000830	Anterior hypopituitarism
HP:0000835	Adrenal hypoplasia
HP:0000863	Central diabetes insipidus
HP:0000864	Abnormality of the hypothalamus-pituitary axis
HP:0000871	Panhypopituitarism
HP:0000873	Diabetes insipidus
HP:0000924	Abnormality of the skeletal system
HP:0001028	Hemangioma
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001254	Lethargy
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001273	Abnormal corpus callosum morphology
HP:0001274	Agenesis of corpus callosum
HP:0001290	Generalized hypotonia
HP:0001328	Specific learning disability
HP:0001344	Absent speech
HP:0001355	Megalencephaly
HP:0001360	Holoprosencephaly
HP:0001371	Flexion contracture

GWAS associations

11 associations:

Study	Trait	p-value
GCST006585_778	Blood protein levels	2e-48
GCST004183_21	Lung function (FEV1)	5e-10
GCST008839_338	Height	1e-9
GCST002030_5	Primary tooth development (time to first tooth eruption)	4e-8
GCST010426_4	Systolic blood pressure x educational attainment (some college) interaction (2df)	5e-8
GCST010426_5	Systolic blood pressure x educational attainment (some college) interaction (2df)	1e-7
GCST008159_17	Waist-to-hip ratio adjusted for BMI	4e-7
GCST008394_8	Mild to moderate chronic kidney disease	7e-7
GCST001658_12	Alzheimer’s disease (late onset)	3e-6
GCST008155_53	Waist-hip ratio	4e-6
GCST009206_7	Cerebral white matter volume	7e-6

EFO canonical traits (from GWAS)

6 canonical traits:

EFO ID	Trait name
EFO:0004314	forced expiratory volume
EFO:0004343	waist-hip ratio
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008320	white matter volume measurement
EFO:0004784	self reported educational attainment
EFO:0006335	systolic blood pressure

MeSH disease descriptors

1 disease descriptors:

Descriptor	Name	Tree numbers
D003103	Coloboma	C11.250.110; C11.270.147; C16.131.384.282

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

51 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, affects cotreatment, increases expression, affects expression	8
trichostatin A	increases expression, affects expression, affects cotreatment	4
epigallocatechin gallate	decreases expression, increases expression, affects cotreatment	2
Vorinostat	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	decreases expression	2
Tretinoin	decreases expression	2
Aflatoxin B1	increases methylation	2
aristolochic acid I	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
bisphenol A	affects cotreatment, increases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	increases methylation	1
lei gong teng	increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
quinocetone	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	increases expression	1
(+)-JQ1 compound	increases expression	1
Irinotecan	decreases expression	1
Leflunomide	increases expression	1
Air Pollutants	increases abundance, decreases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 210 trials:

NCT	Phase	Status	Title
NCT05657860	Phase 4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	Phase 4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	Phase 4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	Phase 4	RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT06760546	Phase 3	RECRUITING	A Trial of Setmelanotide in Patients With Congenital Hypothalamic Obesity (Sub-study of NCT05774756)
NCT02270736	Phase 3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	Phase 2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	Phase 2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	Phase 2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	Phase 2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	Phase 1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	Phase 1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	Phase 1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	Phase 1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	Phase 1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT04115345	Phase 1	COMPLETED	A Study of a Renal Autologous Cell Therapy (REACT) in Patients With Chronic Kidney Disease (CKD) From Congenital Anomalies of the Kidney and Urinary Tract (CAKUT).
NCT05694169	Phase 1	TERMINATED	A Study of Participants With Chronic Kidney Disease Previously Treated With REACT
NCT03479476	Phase 2/3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	Phase 1/2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	Early Phase 1	TERMINATED	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders
NCT02862808	Not specified	COMPLETED	Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing : a Pilot Study
NCT02881333	Not specified	UNKNOWN	Various Type of Genetic Events in Patients With Intellectual Disability
NCT02889068	Not specified	COMPLETED	Targeted Next Generation Sequencing and Intellectual Disability
NCT02914951	Not specified	ENROLLING_BY_INVITATION	Cognitive-Behavioral Therapy for Irritability in Children With Autism Spectrum Disorder and Intellectual Disability
NCT02919826	Not specified	COMPLETED	Dialectical Behaviour Group Therapy for Adults With Intellectual Disabilities
NCT02934854	Not specified	WITHDRAWN	Biomarker for Creatine Deficiency Syndromes (BioCDS)
NCT03033797	Not specified	UNKNOWN	Augmentative and Alternative Communication in Games With Virtual Reality in Intellectual Disabilities
NCT03135236	Not specified	COMPLETED	Parents as the Primary Sexuality Educators for Their Young Adults With Down Syndrome
NCT03139760	Not specified	COMPLETED	POWERSforID: A Telehealth Weight Management System for Adults With Intellectual Disability
NCT03203226	Not specified	COMPLETED	The Feldenkrais Method for People With Intellectual Disability
NCT03212092	Not specified	COMPLETED	Reducing Aggression Among People With an Intellectual Disability
NCT03218462	Not specified	COMPLETED	Effect of Sensory Adapted Dental Environment on Dental Anxiety of Children With Intellectual and Developmental Disabilities
NCT03234231	Not specified	UNKNOWN	Supervised Brushing Programme for Intellectual Disabled Students
NCT03348124	Not specified	UNKNOWN	Prevention Among Young People With Intellectual Disability
NCT03424772	Not specified	UNKNOWN	Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China
NCT03426059	Not specified	COMPLETED	Mapping the Phenotype in Adults With Phelan-McDermid Syndrome
NCT03492060	Not specified	RECRUITING	Longitudinal Study of Neurogenetic Disorders