LMBRD2

Summary

LMBRD2 (LMBR1 domain containing 2, HGNC:25287) is a protein-coding gene on chromosome 5p13.2, encoding G-protein coupled receptor-associated protein LMBRD2 (Q68DH5). Recruited to ligand-activated beta-2 adrenergic receptor/ADRB2, it negatively regulates the adrenergic receptor signaling pathway.

Involved in adrenergic receptor signaling pathway. Located in membrane.

Source: NCBI Gene 92255 — RefSeq curated summary.

At a glance

• Gene–disease (curated): developmental delay with variable neurologic and brain abnormalities (Strong, GenCC) — +2 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 159 total — 8 likely-pathogenic
• Phenotypes (HPO): 34
• MANE Select transcript: NM_001007527

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25287
Approved symbol	LMBRD2
Name	LMBR1 domain containing 2
Location	5p13.2
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp434H2226
Ensembl gene	ENSG00000164187
Ensembl biotype	protein_coding
OMIM	619490
Entrez	92255

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 2 retained_intron

ENST00000296603, ENST00000503535, ENST00000505524, ENST00000885486, ENST00000885487, ENST00000955895, ENST00000955896

RefSeq mRNA: 1 — MANE Select: NM_001007527 NM_001007527

CCDS: CCDS34145

Canonical transcript exons

ENST00000296603 — 18 exons

Exon	Start	End
ENSE00001082221	36115015	36115120
ENSE00001082222	36108534	36108639
ENSE00001082223	36114424	36114521
ENSE00001082225	36105068	36105197
ENSE00001082227	36098407	36104106
ENSE00001400268	36124191	36124265
ENSE00001400784	36122848	36122961
ENSE00001401310	36137274	36137441
ENSE00001404422	36116460	36116593
ENSE00001404739	36122280	36122463
ENSE00001407018	36117735	36117916
ENSE00001427226	36151556	36151887
ENSE00001427793	36143176	36143406
ENSE00001428439	36142502	36142599
ENSE00001430246	36141107	36141202
ENSE00001433850	36136309	36136519
ENSE00003527696	36111155	36111258
ENSE00003550968	36109945	36109991

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 97.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.0277 / max 129.1825, expressed in 1720 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
61305	9.5180	1710
61304	0.3377	121
61306	0.1719	63

Top tissues by expression

261 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
Brodmann (1909) area 23	UBERON:0013554	97.97	gold quality
middle temporal gyrus	UBERON:0002771	97.69	gold quality
Brodmann (1909) area 46	UBERON:0006483	97.52	gold quality
endothelial cell	CL:0000115	96.73	gold quality
postcentral gyrus	UBERON:0002581	96.67	gold quality
parietal lobe	UBERON:0001872	96.11	gold quality
deltoid	UBERON:0001476	96.08	gold quality
tibialis anterior	UBERON:0001385	95.94	gold quality
entorhinal cortex	UBERON:0002728	95.94	gold quality
left ventricle myocardium	UBERON:0006566	95.77	gold quality
ileal mucosa	UBERON:0000331	95.76	gold quality
superior frontal gyrus	UBERON:0002661	95.37	gold quality
cardiac muscle of right atrium	UBERON:0003379	95.29	gold quality
lateral nuclear group of thalamus	UBERON:0002736	95.07	gold quality
biceps brachii	UBERON:0001507	94.54	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	94.38	gold quality
myocardium	UBERON:0002349	94.18	gold quality
calcaneal tendon	UBERON:0003701	93.06	gold quality
vastus lateralis	UBERON:0001379	93.00	gold quality
substantia nigra pars reticulata	UBERON:0001966	92.67	gold quality
kidney epithelium	UBERON:0004819	92.65	gold quality
substantia nigra pars compacta	UBERON:0001965	92.60	gold quality
quadriceps femoris	UBERON:0001377	92.51	gold quality
jejunal mucosa	UBERON:0000399	92.32	gold quality
lateral globus pallidus	UBERON:0002476	92.27	gold quality
superior vestibular nucleus	UBERON:0007227	92.13	gold quality
dorsal plus ventral thalamus	UBERON:0001897	92.05	gold quality
pons	UBERON:0000988	92.03	gold quality
upper leg skin	UBERON:0004262	91.42	gold quality
heart right ventricle	UBERON:0002080	91.40	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	6.32

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

84 targeting LMBRD2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4668-3P	100.00	68.74	2635
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-3646	100.00	73.56	5283
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-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-5003-3P	99.85	69.29	2517

Literature-anchored findings (GeneRIF, showing 1)

• De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features. (PMID:32820033)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	lmbrd2b	ENSDARG00000017312
danio_rerio	lmbrd2a	ENSDARG00000099566
mus_musculus	Lmbrd2	ENSMUSG00000039704
rattus_norvegicus	Lmbrd2	ENSRNOG00000054751
drosophila_melanogaster	CG8135	FBGN0037689
caenorhabditis_elegans		WBGENE00008165

Protein

Protein identifiers

G-protein coupled receptor-associated protein LMBRD2 — Q68DH5 (reviewed: Q68DH5)

Alternative names: LMBR1 domain-containing protein 2

All UniProt accessions (1): Q68DH5

UniProt curated annotations — full annotation on UniProt →

Function. Recruited to ligand-activated beta-2 adrenergic receptor/ADRB2, it negatively regulates the adrenergic receptor signaling pathway. May also regulate other G-protein coupled receptors including type-1 angiotensin II receptor/AGTR1.

Subcellular location. Cell membrane.

Disease relevance. Developmental delay with variable neurologic and brain abnormalities (DENBA) [MIM:619694] An autosomal dominant disorder characterized by onset of motor and speech delay in early childhood. Disease severity and clinical manifestations are highly variable. Most patients have delayed walking and variably impaired intellectual development. Additional features may include seizures, spasticity, and ocular abnormalities. Brain imaging often shows thin corpus callosum and may show white matter atrophy, myelination abnormalities, or enlarged ventricles. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the LIMR family.

RefSeq proteins (1): NP_001007528* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006876	LMBR1-like_membr_prot	Family
IPR051584	GPCR-associated_LMBR1	Family

Pfam: PF04791

UniProt features (34 total): topological domain 10, transmembrane region 9, sequence variant 7, region of interest 2, coiled-coil region 2, chain 1, compositionally biased region 1, modified residue 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q68DH5-F1	76.95	0.33

Functional residue map

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

Post-translational modifications (1): 633

Glycosylation sites (1): 78

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 142 (showing top): AAGCCAT_MIR135A_MIR135B, CATTTCA_MIR203, GOBP_ADRENERGIC_RECEPTOR_SIGNALING_PATHWAY, BASAKI_YBX1_TARGETS_DN, ZHANG_BREAST_CANCER_PROGENITORS_UP, TGCCTTA_MIR124A, AACTGGA_MIR145, MARSON_BOUND_BY_E2F4_UNSTIMULATED, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, GOBP_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, RAO_BOUND_BY_SALL4, STK33_SKM_UP, STK33_UP, FEV_TARGET_GENES, ZSCAN31_TARGET_GENES

GO Biological Process (1): adrenergic receptor signaling pathway (GO:0071875)

GO Molecular Function (0):

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
adrenergic receptor activity	1
G protein-coupled receptor signaling pathway	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

536 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LMBRD2	ATOSA	Q32MH5	556
LMBRD2	PIGO	Q8TEQ8	496
LMBRD2	DEPDC1B	Q8WUY9	493
LMBRD2	AP4E1	Q9UPM8	487
LMBRD2	RAI2	Q9Y5P3	479
LMBRD2	ZNF653	Q96CK0	475
LMBRD2	RANBP3L	Q86VV4	472
LMBRD2	HMG20B	Q9P0W2	471
LMBRD2	TMEM267	Q0VDI3	470
LMBRD2	BTBD2	Q9BX70	466
LMBRD2	CCDC71	Q8IV32	456
LMBRD2	CAPSL	Q8WWF8	456
LMBRD2	RSL24D1	Q9UHA3	450
LMBRD2	SLC39A5	Q6ZMH5	444
LMBRD2	NADK2	Q4G0N4	436

IntAct

89 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
HTR2C	KLRG2	psi-mi:“MI:0914”(association)	0.530
LPAR4	POTEF	psi-mi:“MI:0914”(association)	0.530
SLC2A5	RBFOX3	psi-mi:“MI:0914”(association)	0.530
SPACA1	GOLIM4	psi-mi:“MI:0914”(association)	0.530
CXCR4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
PDCD1	RTL8C	psi-mi:“MI:0914”(association)	0.530
SLC22A15	ZFPL1	psi-mi:“MI:0914”(association)	0.530
LMBRD2	AP2M1	psi-mi:“MI:0915”(physical association)	0.400
SLC15A3		psi-mi:“MI:0914”(association)	0.350
UNC93B1		psi-mi:“MI:0914”(association)	0.350
ERGIC3	TMEM223	psi-mi:“MI:0914”(association)	0.350
C5AR2	ILVBL	psi-mi:“MI:0914”(association)	0.350
VIPR2	C15orf61	psi-mi:“MI:0914”(association)	0.350
FPR2	GPR89A	psi-mi:“MI:0914”(association)	0.350
TACR1	GPR89A	psi-mi:“MI:0914”(association)	0.350
GRPR	GPR89A	psi-mi:“MI:0914”(association)	0.350
DCAF15	ARNT	psi-mi:“MI:0914”(association)	0.350
OPRM1	EXOC5	psi-mi:“MI:0914”(association)	0.350
LPAR6	DEGS1	psi-mi:“MI:0914”(association)	0.350
GNAI2	GNG7	psi-mi:“MI:0914”(association)	0.350
incE	STX7	psi-mi:“MI:0914”(association)	0.350
P		psi-mi:“MI:0914”(association)	0.350
	DENND11	psi-mi:“MI:0914”(association)	0.350
M	DENND11	psi-mi:“MI:0914”(association)	0.350

BioGRID (101): LMBRD2 (Affinity Capture-MS), LMBRD2 (Affinity Capture-MS), LMBRD2 (Affinity Capture-MS), LMBRD2 (Affinity Capture-MS), LMBRD2 (Affinity Capture-MS), LMBRD2 (Affinity Capture-MS), LMBRD2 (Affinity Capture-MS), LMBRD2 (Affinity Capture-MS), LMBRD2 (Affinity Capture-MS), LMBRD2 (Affinity Capture-MS), LMBRD2 (Affinity Capture-MS), LMBRD2 (Affinity Capture-MS), LMBRD2 (Affinity Capture-MS), LMBRD2 (Affinity Capture-MS), LMBRD2 (Affinity Capture-MS)

ESM2 similar proteins: A0JPH4, A2AHL1, A8DZH4, D3ZWZ9, E7FFT2, F1QFU0, F1QZE9, P48763, P50482, P86044, Q28CV2, Q32NZ6, Q3TPR7, Q3ZAS0, Q4R7U0, Q4V8U5, Q5F3F5, Q5M7W4, Q5RH73, Q5YCC5, Q5ZKN3, Q68DH5, Q6GQE1, Q6P4P2, Q6UXY8, Q7L1W4, Q7Z2W7, Q7Z402, Q7ZYA0, Q810F5, Q8BH79, Q8C428, Q8C561, Q8CB19, Q8IZK6, Q8N3S3, Q8R455, Q8R4D5, Q8R4P4, Q8R4P5

Diamond homologs: Q18695, Q29BL9, Q5F3F5, Q61ZW5, Q68DH5, Q6P4P2, Q7ZYA0, Q8C561, Q8MRQ4, Q54Q92, Q54TM2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 106 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
G alpha (q) signalling events	13	11.7×	1e-08
Class A/1 (Rhodopsin-like receptors)	8	9.3×	1e-04
Peptide ligand-binding receptors	7	8.1×	9e-04
GPCR ligand binding	8	8.0×	3e-04
G alpha (i) signalling events	12	7.3×	8e-06
SLC-mediated transmembrane transport	7	6.5×	3e-03
Signaling by GPCR	8	5.0×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	8	19.4×	1e-06
phospholipase C-activating G protein-coupled receptor signaling pathway	11	16.1×	4e-08
positive regulation of cytosolic calcium ion concentration	8	10.4×	1e-04
chemotaxis	6	9.1×	4e-03
adenylate cyclase-activating G protein-coupled receptor signaling pathway	7	8.8×	1e-03
G protein-coupled receptor signaling pathway	16	6.4×	8e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	8
Uncertain significance	114
Likely benign	9
Benign	5

Top pathogenic / likely-pathogenic (8)

Variant ID	HGVS	Classification
1699429	NM_001007527.2(LMBRD2):c.149T>C (p.Phe50Ser)	Likely pathogenic
1701877	NM_001007527.2(LMBRD2):c.1460C>T (p.Pro487Leu)	Likely pathogenic
3342609	NM_001007527.2(LMBRD2):c.976C>G (p.Gln326Glu)	Likely pathogenic
3369230	NM_001007527.2(LMBRD2):c.1568C>G (p.Ser523Cys)	Likely pathogenic
3662550	NM_001007527.2(LMBRD2):c.840G>T (p.Gln280His)	Likely pathogenic
3777058	NM_001007527.2(LMBRD2):c.1428C>G (p.Phe476Leu)	Likely pathogenic
4291913	NM_001007527.2(LMBRD2):c.341T>A (p.Val114Glu)	Likely pathogenic
982396	NM_001007527.2(LMBRD2):c.1447C>T (p.Arg483Cys)	Likely pathogenic

SpliceAI

3011 predictions. Top by Δscore:

Variant	Effect	Δscore
5:36102250:T:TA	donor_gain	1.0000
5:36105063:CTTA:C	donor_loss	1.0000
5:36105064:TTAC:T	donor_loss	1.0000
5:36105065:TA:T	donor_loss	1.0000
5:36105066:A:AC	donor_gain	1.0000
5:36105066:A:AG	donor_loss	1.0000
5:36105066:ACCTT:A	donor_gain	1.0000
5:36105067:C:CC	donor_gain	1.0000
5:36105067:CCTT:C	donor_gain	1.0000
5:36105067:CCTTC:C	donor_gain	1.0000
5:36105070:T:A	donor_gain	1.0000
5:36105193:TGCAG:T	acceptor_gain	1.0000
5:36105194:GCAG:G	acceptor_gain	1.0000
5:36105195:CAG:C	acceptor_gain	1.0000
5:36105195:CAGC:C	acceptor_gain	1.0000
5:36105196:AG:A	acceptor_gain	1.0000
5:36105197:GC:G	acceptor_loss	1.0000
5:36105198:C:A	acceptor_loss	1.0000
5:36105198:C:CC	acceptor_gain	1.0000
5:36105199:T:G	acceptor_loss	1.0000
5:36108528:A:AC	donor_gain	1.0000
5:36108529:C:CC	donor_gain	1.0000
5:36108530:TTA:T	donor_loss	1.0000
5:36108531:TA:T	donor_loss	1.0000
5:36108532:A:AC	donor_gain	1.0000
5:36108532:A:AT	donor_loss	1.0000
5:36108533:C:CA	donor_gain	1.0000
5:36108533:CA:C	donor_gain	1.0000
5:36108533:CAA:C	donor_gain	1.0000
5:36108533:CAACG:C	donor_gain	1.0000

AlphaMissense

4593 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:36115088:A:G	L490P	1.000
5:36124201:A:T	I271K	1.000
5:36136476:C:G	G194R	1.000
5:36136479:A:G	W193R	1.000
5:36136479:A:T	W193R	1.000
5:36136490:G:T	A189D	1.000
5:36141144:A:G	W111R	1.000
5:36141144:A:T	W111R	1.000
5:36114463:G:T	P534H	0.999
5:36115084:A:C	N491K	0.999
5:36115084:A:T	N491K	0.999
5:36115090:A:C	C489W	0.999
5:36115092:A:G	C489R	0.999
5:36115106:A:C	L484W	0.999
5:36115109:C:G	R483P	0.999
5:36115110:G:C	R483G	0.999
5:36115110:G:T	R483S	0.999
5:36115111:G:C	C482W	0.999
5:36116465:A:C	S477R	0.999
5:36116465:A:T	S477R	0.999
5:36116467:T:G	S477R	0.999
5:36116468:G:C	F476L	0.999
5:36116468:G:T	F476L	0.999
5:36116470:A:G	F476L	0.999
5:36116475:A:G	L474P	0.999
5:36116477:G:C	S473R	0.999
5:36116477:G:T	S473R	0.999
5:36116479:T:G	S473R	0.999
5:36116490:G:A	T469I	0.999
5:36116587:A:G	C437R	0.999

dbSNP variants (sampled 300 via entrez): RS1000044719 (5:36117879 G>A), RS1000139652 (5:36152468 T>C,G), RS1000149901 (5:36103738 T>C), RS1000161397 (5:36109741 A>G,T), RS1000183908 (5:36131397 T>C), RS1000381408 (5:36139165 CT>C), RS1000391348 (5:36102115 T>A,C,G), RS1000488180 (5:36151990 A>G,T), RS1000535324 (5:36116869 T>A), RS1000605023 (5:36131015 C>T), RS1000629331 (5:36138677 G>A), RS1000659783 (5:36123742 T>A,C), RS1000703334 (5:36110129 A>G), RS1000901323 (5:36131119 G>A), RS1000913105 (5:36144852 A>G)

Disease associations

OMIM: gene MIM:619490 | disease phenotypes: MIM:619694, MIM:617493

GenCC curated gene-disease

Disease	Classification	Inheritance
developmental delay with variable neurologic and brain abnormalities	Strong	Autosomal dominant
neurodevelopmental disorder with microcephaly and dysmorphic facies	Moderate	Autosomal dominant
complex neurodevelopmental disorder	No Known Disease Relationship	Autosomal dominant

Mondo (5): neurodevelopmental disorder (MONDO:0700092), developmental delay with variable neurologic and brain abnormalities (MONDO:0859218), neurodevelopmental disorder with involuntary movements (MONDO:0060491), complex neurodevelopmental disorder (MONDO:0100038), neurodevelopmental disorder with microcephaly and dysmorphic facies (MONDO:0032942)

Orphanet (1): GNAO1-related developmental delay-seizures-movement disorder spectrum (Orphanet:592564)

HPO phenotypes

34 total (30 of 34 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000252	Microcephaly
HP:0000336	Prominent supraorbital ridges
HP:0000347	Micrognathia
HP:0000400	Macrotia
HP:0000445	Wide nose
HP:0000463	Anteverted nares
HP:0000483	Astigmatism
HP:0000501	Glaucoma
HP:0000518	Cataract
HP:0000540	Hypermetropia
HP:0000568	Microphthalmia
HP:0000582	Upslanted palpebral fissure
HP:0000637	Long palpebral fissure
HP:0000639	Nystagmus
HP:0000646	Amblyopia
HP:0000687	Widely spaced teeth
HP:0000691	Microdontia
HP:0000750	Delayed speech and language development
HP:0000767	Pectus excavatum
HP:0001137	Alternating esotropia
HP:0001250	Seizure
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0002057	Prominent glabella
HP:0002282	Gray matter heterotopia
HP:0002967	Cubitus valgus
HP:0003593	Infantile onset
HP:0005338	Sparse lateral eyebrow

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000323_9	Response to treatment for acute lymphoblastic leukemia	7.000000e-06
GCST006804_181	Red cell distribution width	3.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009188	Red cell distribution width

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	affects expression, decreases methylation	2
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
sodium arsenite	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
monomethylarsonous acid	increases expression	1
abrine	decreases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Benzo(a)pyrene	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Thimerosal	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	decreases expression	1
Valproic Acid	increases expression	1
Cyclosporine	increases expression	1
Okadaic Acid	decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

204 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT06310681	Not specified	COMPLETED	Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability
NCT07303049	Not specified	NOT_YET_RECRUITING	Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism