GCDH

Summary

GCDH (glutaryl-CoA dehydrogenase, HGNC:4189) is a protein-coding gene on chromosome 19p13.13, encoding Glutaryl-CoA dehydrogenase, mitochondrial (Q92947). Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism.

The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12.

Source: NCBI Gene 2639 — RefSeq curated summary.

At a glance

• Gene–disease (curated): glutaryl-CoA dehydrogenase deficiency (Definitive, ClinGen)
• GWAS associations: 30
• Clinical variants (ClinVar): 939 total — 112 pathogenic, 100 likely-pathogenic
• Phenotypes (HPO): 78
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_000159

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4189
Approved symbol	GCDH
Name	glutaryl-CoA dehydrogenase
Location	19p13.13
Locus type	gene with protein product
Status	Approved
Aliases	ACAD5, GCD
Ensembl gene	ENSG00000105607
Ensembl biotype	protein_coding
OMIM	608801
Entrez	2639

Gene structure

Transcript identifiers

Ensembl transcripts: 39 — 27 protein_coding, 6 retained_intron, 5 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000222214, ENST00000421816, ENST00000585420, ENST00000585760, ENST00000587072, ENST00000587832, ENST00000588242, ENST00000588905, ENST00000589039, ENST00000590445, ENST00000590472, ENST00000590530, ENST00000590627, ENST00000591043, ENST00000591050, ENST00000591470, ENST00000714067, ENST00000714068, ENST00000714069, ENST00000714070, ENST00000714071, ENST00000714072, ENST00000714073, ENST00000714074, ENST00000714075, ENST00000909379, ENST00000909380, ENST00000909381, ENST00000909382, ENST00000909383, ENST00000909384, ENST00000909385, ENST00000909386, ENST00000909387, ENST00000940007, ENST00000940008, ENST00000940009, ENST00000954316, ENST00000954317

RefSeq mRNA: 2 — MANE Select: NM_000159 NM_000159, NM_013976

CCDS: CCDS12286

Canonical transcript exons

ENST00000222214 — 12 exons

Exon	Start	End
ENSE00001409053	12891160	12891202
ENSE00003515811	12896205	12896421
ENSE00003523833	12893483	12893653
ENSE00003533412	12896910	12897013
ENSE00003552047	12897303	12897428
ENSE00003566094	12892116	12892178
ENSE00003616291	12891487	12891522
ENSE00003643085	12891831	12891974
ENSE00003669873	12899468	12899999
ENSE00003683570	12895992	12896121
ENSE00004022711	12891271	12891395
ENSE00004022716	12897703	12897863

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 96.57.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.6186 / max 162.8225, expressed in 1801 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
174037	13.6186	1801

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	96.57	gold quality
liver	UBERON:0002107	93.93	gold quality
apex of heart	UBERON:0002098	93.11	gold quality
heart left ventricle	UBERON:0002084	90.77	gold quality
cardiac ventricle	UBERON:0002082	90.40	gold quality
right ovary	UBERON:0002118	90.20	gold quality
gastrocnemius	UBERON:0001388	89.94	gold quality
left ovary	UBERON:0002119	89.74	gold quality
muscle of leg	UBERON:0001383	89.56	gold quality
mucosa of transverse colon	UBERON:0004991	89.34	gold quality
body of stomach	UBERON:0001161	89.10	gold quality
hindlimb stylopod muscle	UBERON:0004252	88.70	gold quality
right adrenal gland	UBERON:0001233	88.67	gold quality
tibial nerve	UBERON:0001323	88.46	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	88.43	gold quality
right atrium auricular region	UBERON:0006631	88.31	gold quality
lower esophagus muscularis layer	UBERON:0035833	88.26	gold quality
heart	UBERON:0000948	88.24	gold quality
lower esophagus	UBERON:0013473	88.24	gold quality
left uterine tube	UBERON:0001303	88.14	gold quality
nucleus accumbens	UBERON:0001882	87.89	gold quality
left adrenal gland	UBERON:0001234	87.84	gold quality
right adrenal gland cortex	UBERON:0035827	87.83	gold quality
caudate nucleus	UBERON:0001873	87.72	gold quality
putamen	UBERON:0001874	87.55	gold quality
popliteal artery	UBERON:0002250	87.53	gold quality
tibial artery	UBERON:0007610	87.50	gold quality
granulocyte	CL:0000094	87.41	gold quality
adult mammalian kidney	UBERON:0000082	87.41	gold quality
left coronary artery	UBERON:0001626	87.16	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ENAD-17	no	471.33
E-GEOD-100618	no	210.90
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXO1

miRNA regulators (miRDB)

31 targeting GCDH, 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-3910	99.95	71.13	2227
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-4477B	99.23	70.49	1733
HSA-MIR-361-3P	99.19	66.45	1381
HSA-MIR-4796-3P	99.08	68.38	1681
HSA-MIR-3145-3P	98.85	69.07	2031
HSA-MIR-210-5P	98.57	64.37	832
HSA-MIR-6870-3P	98.08	65.10	692
HSA-MIR-12120	98.05	68.44	1768
HSA-MIR-6819-5P	97.96	66.59	1071
HSA-MIR-4469	97.93	65.81	1319
HSA-MIR-7111-3P	97.80	66.75	1467
HSA-MIR-6737-5P	97.75	66.54	1044
HSA-MIR-6812-5P	97.56	65.39	1059
HSA-MIR-6855-5P	97.51	66.03	830
HSA-MIR-12128	96.67	66.98	1471
HSA-MIR-6085	96.57	64.11	621
HSA-MIR-3170	95.84	64.32	721
HSA-MIR-6813-5P	94.68	64.20	588

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 37)

• In the oxidative decarboxylation of glutaryl-coenzyme A (CoA) that is catalyzed by glutaryl-CoA dehydrogenase, glutaconyl-CoA is the presumed enzyme-bound intermediate. (PMID:11705404)
• Three-dimensional structures of human GCD in uncomplexed form and in complex with 4-nitrobutyryl-CoA are reported, and the structural bases for the mechanisms of the dehydrogenation and decarboxylation reactions are proposed. (PMID:15274622)
• The authors report two GCDH-deficient patients with macrocephaly presenting with progressive neurologic deterioration and a severe leukoencephalopathy during adolescence or adulthood. (PMID:15985591)
• An autosomal recessive disease thsat leads to an accumulation of glutaric and 3-hydroxyglutaric acids and secondary carnitine deficiency, (review) (PMID:16368216)
• The major rate-determining step in the steady-state turnover of glutaryl-CoA dehydrogenase (GCD) occurs at the release of crotonyl-CoA product; the chemical steps and reoxidation of reduced FAD are much faster than the turnover of wild-type GCD. (PMID:17176108)
• GA I is caused by mutations in the GCDH gene, encoding glutaryl-CoA dehydrogenase. (PMID:17661081)
• Expression studies of four missense mutations in GCDH indicate that both enzyme instability and impaired enzyme function can underlie the autosomal recessive neurometabolic disorder glutaric aciduria type I. (PMID:18775954)
• Cerebral toxicity caused by GCDH deficiency may induce a state of arteriolar dilation and increased cerebral blood volume. (PMID:20032085)
• mutational analysis of glutaryl-CoA dehydrogenase in two patients with glutaric aciduria type 1. (PMID:20514322)
• 12 glutaric aciduria type 1 patients were found homozygous for the same A293T mutation in the glutaryl-CoA dehydrogenase (GCDH) gene. (PMID:20732827)
• GCDH gene mutations are identified in 8 patients with glutaric aciduria type I (PMID:21811973)
• A homozygous, disease-segregating mutation (p.Val400Met) was identified in the glutaryl-CoA dehydrogenase (GCDH) gene at chromosome 19p13. (PMID:21912879)
• physiological concentrations of flavin adenine dinucleotide resulted in a spectacular enhancement of the thermal stabilities of GCDH and prevented enzymatic activity loss (PMID:21968293)
• These cells displayed decreased levels of GCDH tetramer. (PMID:22231382)
• Identification of GCDH gene mutations in four patients with glutaric academia type I. (PMID:23225040)
• 29 GCDH mutations were identified in 23 glutaric aciduria type 1 patients, including 11 novel mutations (PMID:24332224)
• 2 novel mutations, p.Glu64Asp and p.Gly268Val, account for majority of disease alleles in Cypriot patients with Glutaric aciduria type I; a founder effect for the p.Glu64Asp and the p.Gly268Val can be suggested based on place of origin of mutation carriers (PMID:24973495)
• Data indicate a homozygous c.1244-2A> C mutation of the glutaryl-CoA dehydrogenase (GCDH) gene in both patients. (PMID:25297592)
• Point mutation of GCDH gene is associated with glutaric academia type I. (PMID:25863083)
• Mutations in GCDH gene observed in the present study indicate genetic heterogeneity in GCDH gene among South Indian population. No definite genotype-phenotype correlations were observed. (PMID:26071121)
• We report the allele frequencies for three known Glutaric aciduria type I low excretors GCDH variants (M405V, V400M and R227P) and note that both the M405V and V400M variants are significantly more common in the population of African ancestry compared to the general population (PMID:27397597)
• Our data underscore the impact of GCDH protein interactions mediated by amino acid residues on the surface of GCDH required for proper enzymatic activity (PMID:28062662)
• Molecular genetics analysis identified 14 different mutations in the GCDH gene in the 18 patients with Glutaric acidemia I (PMID:28389991)
• Four mutations of the glutaryl-CoA dehydrogenase (GCDH) gene were identified among the patients with diagnosis of glutaric acidemia type I (GA-I). (PMID:29419857)
• Homozygous pathogenic missense variant in GCDH gene is associated with glutaric aciduria, type I. (PMID:30203563)
• mutational analysis of variants in the GCDH gene in Chinese families affected with glutaric acidemia type 1 (PMID:30512148)
• We provide a rationale for the possible interallelic complementation observed in heterozygous Glutaric Aciduria Type I patients based on the fact that in GCDH, the low active p.Arg227Pro variant contributes to stabilize the tetramer while the structurally unstable p.Val400Met variant compensates for enzyme activity. (PMID:31491587)
• The GCDH gene variant probably underliee the glutaric aciduria type I (PMID:31515781)
• Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene. (PMID:32240488)
• Functional Recovery of a GCDH Variant Associated to Severe Deflavinylation-Molecular Insights into Potential Beneficial Effects of Riboflavin Supplementation in Glutaric Aciduria-Type I Patients. (PMID:32992790)
• Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene. (PMID:33064266)
• Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades. (PMID:33069577)
• The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery. (PMID:33965309)
• Identification of novel pathogenic variants in the GCDH gene and assessment of neurodevelopmental outcomes in 24 children with glutaric aciduria type 1. (PMID:35662016)
• Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review. (PMID:36906724)
• Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China. (PMID:37496092)
• Glutaryl-CoA dehydrogenase suppresses tumor progression and shapes an anti-tumor microenvironment in hepatocellular carcinoma. (PMID:38825017)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	gcdha	ENSDARG00000037057
danio_rerio	gcdhb	ENSDARG00000098831
mus_musculus	Gcdh	ENSMUSG00000003809
rattus_norvegicus	Gcdh	ENSRNOG00000003307
drosophila_melanogaster	CG9547	FBGN0031824
caenorhabditis_elegans		WBGENE00010052

Paralogs (14): ACADVL (ENSG00000072778), ACOX3 (ENSG00000087008), ACAD10 (ENSG00000111271), ACADL (ENSG00000115361), ACADM (ENSG00000117054), ACADS (ENSG00000122971), IVD (ENSG00000128928), ACAD8 (ENSG00000151498), ACOXL (ENSG00000153093), ACOX1 (ENSG00000161533), ACOX2 (ENSG00000168306), ACAD9 (ENSG00000177646), ACADSB (ENSG00000196177), ACAD11 (ENSG00000240303)

Protein

Protein identifiers

Glutaryl-CoA dehydrogenase, mitochondrial — Q92947 (reviewed: Q92947)

All UniProt accessions (15): Q92947, A0AAQ5BHB0, A0AAQ5BHC1, A0AAQ5BHD5, A0AAQ5BHE4, A0AAQ5BHF4, A0AAQ5BHF9, A0AAQ5BHH9, K7EKH1, K7EKT3, K7EQ99, K7ER63, K7ERX1, K7ES74, K7ESA6

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. Isoform Short is inactive.

Subunit / interactions. Homotetramer.

Subcellular location. Mitochondrion matrix.

Tissue specificity. Isoform Long and isoform Short are expressed in fibroblasts and liver.

Disease relevance. Glutaric aciduria 1 (GA1) [MIM:231670] An autosomal recessive metabolic disorder characterized by progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Strongly inhibited by MCPA-CoA, a metabolite of hypoglycin which is present in unripened fruit of the ackee tree.

Pathway. Amino-acid metabolism; lysine degradation. Amino-acid metabolism; tryptophan metabolism.

Similarity. Belongs to the acyl-CoA dehydrogenase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q92947-1	Long	yes
Q92947-2	Short

RefSeq proteins (2): NP_000150, NP_039663 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006089	Acyl-CoA_DH_CS	Conserved_site
IPR006091	AcylCoA_DH/ox_M	Domain
IPR009075	AcylCo_DH/oxidase_C	Domain
IPR009100	AcylCoA_DH/oxidase_NM_dom_sf	Homologous_superfamily
IPR013786	AcylCoA_DH/ox_N	Domain
IPR036250	AcylCo_DH-like_C	Homologous_superfamily
IPR037069	AcylCoA_DH/ox_N_sf	Homologous_superfamily
IPR046373	Acyl-CoA_Oxase/DH_mid-dom_sf	Homologous_superfamily
IPR052033	GCDH	Family

Pfam: PF00441, PF02770, PF02771

Enzyme classification (BRENDA):

• EC 1.3.8.6 — glutaryl-CoA dehydrogenase (ETF) (BRENDA: 13 organisms, 56 substrates, 14 inhibitors, 38 Km, 30 kcat entries)

Substrate kinetics (BRENDA)

17 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
GLUTARYL-COA	0.0034–3.8	15
ELECTRON TRANSFER FLAVOPROTEIN	0.0002–0.0011	5
4-NITROBUTYRYL-COA	0.014	1
5-HEXENOYL-COA	0.105	1
CROTONYL-COA	0.004	1
GLUTACONYL-COA	0.003	1
GLUTARAMYL-COA	0.0066	1
GLUTARYLPANTETHEINE	2	1
HEXANOYL-COA	0.085	1
HUMAN ELECTRON-TRANSFER FLAVOPROTEIN	0.042	1
METHYL-GLUTARYL-COA	0.02	1
PENTANOYL-COA	0.024	1
DICHLOROPHENOLINDOPHENOL	—	0
ELECTRON-TRANSFER FLAVOPROTEIN	—	0
FERROCENIUM HEXAFLUOROPHOSPHATE	—	0

Catalyzed reactions (Rhea), 1 shown:

• glutaryl-CoA + oxidized [electron-transfer flavoprotein] + 2 H(+) = (2E)-butenoyl-CoA + reduced [electron-transfer flavoprotein] + CO2 (RHEA:13389)

UniProt features (107 total): sequence variant 60, helix 19, binding site 11, strand 9, transit peptide 1, chain 1, modified residue 1, splice variant 1, active site 1, mutagenesis site 1, sequence conflict 1, turn 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
1SIQ	X-RAY DIFFRACTION	2.1
2R0N	X-RAY DIFFRACTION	2.3
1SIR	X-RAY DIFFRACTION	2.6
2R0M	X-RAY DIFFRACTION	2.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92947-F1	92.23	0.89

Functional residue map

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

Catalytic / active sites (1): 414 (proton acceptor)

Ligand- & substrate-binding residues (11): 387–391; 415; 416–418; 434; 138–139; 177–186; 186; 212–214; 287–294; 319; 330

Post-translational modifications (1): 240

Mutagenesis-validated functional residues (1):

Position	Phenotype
414	reduced catalytic activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-71064	Lysine catabolism

MSigDB gene sets: 336 (showing top): GOBP_LIPID_MODIFICATION, GOBP_FATTY_ACID_CATABOLIC_PROCESS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ACETYL_COA_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_FATTY_ACID_BETA_OXIDATION_USING_ACYL_COA_DEHYDROGENASE, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_FATTY_ACYL_COA_METABOLIC_PROCESS, GOBP_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS

GO Biological Process (5): obsolete L-tryptophan metabolic process (GO:0006568), fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539), fatty-acyl-CoA biosynthetic process (GO:0046949), acyl-CoA metabolic process (GO:0006637), fatty acid oxidation (GO:0019395)

GO Molecular Function (6): fatty-acyl-CoA binding (GO:0000062), glutaryl-CoA dehydrogenase activity (GO:0004361), flavin adenine dinucleotide binding (GO:0050660), acyl-CoA dehydrogenase activity (GO:0003995), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)

GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Metabolism of amino acids and derivatives	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
acyl-CoA dehydrogenase activity	2
fatty acid beta-oxidation	1
fatty-acyl-CoA metabolic process	1
acyl-CoA biosynthetic process	1
fatty acid derivative biosynthetic process	1
nucleoside phosphate metabolic process	1
sulfur compound metabolic process	1
purine-containing compound metabolic process	1
fatty acid metabolic process	1
lipid oxidation	1
acyl-CoA binding	1
fatty acid derivative binding	1
nucleotide binding	1
anion binding	1
oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptor	1
catalytic activity	1
oxidoreductase activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

2392 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GCDH	GUCY2D	Q02846	752
GCDH	SUGCT	Q9HAC7	750
GCDH	NPR2	P20594	739
GCDH	NPR1	P16066	678
GCDH	VPS35	Q96QK1	665
GCDH	GUCA2B	Q16661	646
GCDH	ETFDH	Q16134	601
GCDH	GUCA2A	Q02747	593
GCDH	GUCY2F	P51841	591
GCDH	ECSIT	Q9BQ95	587
GCDH	GUCA1A	P43080	557
GCDH	ETFB	P38117	541
GCDH	ETFA	P13804	539
GCDH	ECHS1	P30084	531
GCDH	OMP	P47874	518

IntAct

71 interactions, top by confidence:

A	B	Type	Score
PFDN4	PFDN6	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
KSR2	POLR3A	psi-mi:“MI:0914”(association)	0.530
GCDH	NOS3	psi-mi:“MI:0914”(association)	0.520
GCDH	NOS3	psi-mi:“MI:0915”(physical association)	0.520
NOS3	GCDH	psi-mi:“MI:0403”(colocalization)	0.520
PSEN1	GCDH	psi-mi:“MI:0914”(association)	0.480
GCDH	PSEN1	psi-mi:“MI:0915”(physical association)	0.480
	GCDH	psi-mi:“MI:0407”(direct interaction)	0.440
	GCDH	psi-mi:“MI:0945”(oxidoreductase activity electron transfer reaction)	0.440
GCDH	ETFDH	psi-mi:“MI:0945”(oxidoreductase activity electron transfer reaction)	0.440
GCDH	GRB2	psi-mi:“MI:0915”(physical association)	0.400
	TK2	psi-mi:“MI:0915”(physical association)	0.400
A2M	GCDH	psi-mi:“MI:0915”(physical association)	0.370
GCDH	APOE	psi-mi:“MI:0915”(physical association)	0.370
GCDH	CDC37	psi-mi:“MI:0915”(physical association)	0.370
ECSIT	GCDH	psi-mi:“MI:0915”(physical association)	0.370
EXOC6	GCDH	psi-mi:“MI:0915”(physical association)	0.370
RNF32	GCDH	psi-mi:“MI:0915”(physical association)	0.370
SIRT4	VWA8	psi-mi:“MI:0914”(association)	0.350

BioGRID (110): ISCA1 (Affinity Capture-MS), MARS2 (Affinity Capture-MS), GCDH (Affinity Capture-MS), GCDH (Affinity Capture-MS), GCDH (Affinity Capture-MS), ISCA1 (Affinity Capture-MS), MARS2 (Affinity Capture-MS), GCDH (Affinity Capture-MS), GCDH (Affinity Capture-MS), GCDH (Affinity Capture-MS), GCDH (Proximity Label-MS), GCDH (Affinity Capture-MS), GCDH (Affinity Capture-MS), GCDH (Affinity Capture-MS), GCDH (Affinity Capture-MS)

ESM2 similar proteins: A9W6K8, B1M597, B1ZEN4, B7KRF3, O00154, O85343, P00393, P04182, P0A1A1, P0A1A2, P0A8Z0, P0A8Z1, P0A8Z2, P0A959, P0A960, P0A961, P0A9Q7, P0A9Q8, P24175, P26341, P35815, P36993, P37742, P42398, P44886, P49136, P49139, P77748, P80147, P81140, P93394, P93596, Q01411, Q0II68, Q43971, Q64559, Q6GPC6, Q7SZM9, Q89AL4, Q8BHJ5

Diamond homologs: A1A789, A5A6I0, A7ZHD0, A7ZVY9, A8WP91, A8XNF0, B1IRD7, B1LFX2, B1WC61, B1XBG4, B4EY23, B5YYD3, B6HYZ0, B7L4G2, B7LWN0, B7MAG2, B7MNP6, B7N7R4, B7NHE3, B7UI85, C3UVB0, C4ZPW5, D3JV03, F8GVD3, G3KIM8, H6LGM6, J7TF92, O32176, O34421, O54143, P08503, P11310, P12007, P15650, P15651, P16219, P26440, P28330, P41367, P45857

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	112
Likely pathogenic	100
Uncertain significance	192
Likely benign	342
Benign	20

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1028582	NM_000159.4(GCDH):c.1243+1G>T	Pathogenic
1066567	NM_000159.4(GCDH):c.1213dup (p.Met405fs)	Pathogenic
1070251	NM_000159.4(GCDH):c.1168G>A (p.Gly390Arg)	Pathogenic
1070459	NM_000159.4(GCDH):c.91G>T (p.Glu31Ter)	Pathogenic
1072735	NM_000159.4(GCDH):c.905T>C (p.Leu302Pro)	Pathogenic
1074476	NM_000159.4(GCDH):c.463T>C (p.Tyr155His)	Pathogenic
1162199	NM_000159.4(GCDH):c.505+1G>A	Pathogenic
1361482	NM_000159.4(GCDH):c.1116del (p.Asn373fs)	Pathogenic
1381101	NM_000159.4(GCDH):c.661_662del (p.Leu221fs)	Pathogenic
1381918	NM_000159.4(GCDH):c.542_543del (p.Glu181fs)	Pathogenic
1383061	NM_000159.4(GCDH):c.467G>T (p.Gly156Val)	Pathogenic
1383091	NM_000159.4(GCDH):c.775T>C (p.Ser259Pro)	Pathogenic
1426297	NM_000159.4(GCDH):c.1211C>G (p.Ala404Gly)	Pathogenic
1454092	NM_000159.4(GCDH):c.1064_1065insATTG (p.Lys357fs)	Pathogenic
1454846	NM_000159.4(GCDH):c.998A>G (p.Gln333Arg)	Pathogenic
1457194	NM_000159.4(GCDH):c.736_737del (p.Ser246fs)	Pathogenic
1458728	NC_000019.9:g.(?13004287)(13008687_?)del	Pathogenic
1458803	NM_000159.4(GCDH):c.222C>A (p.Tyr74Ter)	Pathogenic
1459658	NC_000019.9:g.(?13001426)(13004353_?)del	Pathogenic
1459696	NM_000159.4(GCDH):c.275T>G (p.Phe92Cys)	Pathogenic
1460079	NC_000019.9:g.(?12996012)(13004373_?)del	Pathogenic
1685842	NM_000159.4(GCDH):c.671T>G (p.Val224Gly)	Pathogenic
188921	NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)	Pathogenic
188946	NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser)	Pathogenic
189030	NM_000159.4(GCDH):c.271+1G>A	Pathogenic
189066	NM_000159.4(GCDH):c.1239C>A (p.Tyr413Ter)	Pathogenic
189150	NM_000159.4(GCDH):c.262C>T (p.Arg88Cys)	Pathogenic
191375	NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)	Pathogenic
1951275	NM_000159.4(GCDH):c.831_834dup (p.Gly279fs)	Pathogenic
2016415	NM_000159.4(GCDH):c.524del (p.Gly175fs)	Pathogenic

SpliceAI

2565 predictions. Top by Δscore:

Variant	Effect	Δscore
19:12891391:GACCG:G	donor_gain	1.0000
19:12891396:GTC:G	donor_loss	1.0000
19:12891829:A:AG	acceptor_gain	1.0000
19:12891830:G:GG	acceptor_gain	1.0000
19:12891933:A:T	donor_gain	1.0000
19:12891972:AAG:A	donor_loss	1.0000
19:12891974:GGTG:G	donor_loss	1.0000
19:12891975:G:T	donor_loss	1.0000
19:12891976:T:G	donor_loss	1.0000
19:12893472:A:AG	acceptor_gain	1.0000
19:12895987:TGCA:T	acceptor_loss	1.0000
19:12895989:CAGCC:C	acceptor_loss	1.0000
19:12895990:A:AG	acceptor_gain	1.0000
19:12895991:G:GA	acceptor_gain	1.0000
19:12895991:GC:G	acceptor_gain	1.0000
19:12895991:GCC:G	acceptor_gain	1.0000
19:12895991:GCCA:G	acceptor_gain	1.0000
19:12895991:GCCAA:G	acceptor_gain	1.0000
19:12896117:ACCTG:A	donor_gain	1.0000
19:12896118:CCTG:C	donor_gain	1.0000
19:12896119:CTG:C	donor_gain	1.0000
19:12896120:TGG:T	donor_loss	1.0000
19:12896122:G:GG	donor_gain	1.0000
19:12896122:G:T	donor_loss	1.0000
19:12896123:T:A	donor_loss	1.0000
19:12896203:A:AG	acceptor_gain	1.0000
19:12896203:AG:A	acceptor_gain	1.0000
19:12896204:G:GG	acceptor_gain	1.0000
19:12896204:GG:G	acceptor_gain	1.0000
19:12896417:TGGGG:T	donor_gain	1.0000

AlphaMissense

2835 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:12893572:A:C	S142R	0.995
19:12893574:T:A	S142R	0.995
19:12893574:T:G	S142R	0.995
19:12893551:A:C	S135R	0.994
19:12893553:T:A	S135R	0.994
19:12893553:T:G	S135R	0.994
19:12896952:T:A	W299R	0.993
19:12896952:T:C	W299R	0.993
19:12897733:G:C	K371N	0.993
19:12897733:G:T	K371N	0.993
19:12897838:C:A	N406K	0.993
19:12897838:C:G	N406K	0.993
19:12896014:C:G	C176W	0.991
19:12896015:T:C	F177L	0.991
19:12896017:C:A	F177L	0.991
19:12896017:C:G	F177L	0.991
19:12897773:G:C	A385P	0.991
19:12897777:G:C	R386P	0.991
19:12896242:T:A	W225R	0.990
19:12896242:T:C	W225R	0.990
19:12897768:G:C	R383P	0.990
19:12893561:G:T	R138M	0.989
19:12896276:T:C	F236S	0.989
19:12897797:G:T	G393W	0.989
19:12897840:T:C	L407P	0.989
19:12896116:G:C	K210N	0.988
19:12896116:G:T	K210N	0.988
19:12896120:T:A	W212R	0.987
19:12896120:T:C	W212R	0.987
19:12896981:C:G	C308W	0.987

dbSNP variants (sampled 300 via entrez): RS1000188362 (19:12889429 T>A), RS1001073929 (19:12899198 G>A,C), RS1001078446 (19:12891064 G>A), RS1001746097 (19:12893879 C>G), RS1002345759 (19:12892363 C>T), RS1002785239 (19:12892650 T>G), RS1003067446 (19:12889185 G>A), RS1003540493 (19:12892253 C>T), RS1003611285 (19:12893590 G>A,T), RS1004054783 (19:12893011 G>T), RS1004105748 (19:12892669 A>C,G), RS1004479121 (19:12890714 G>A), RS1005091447 (19:12896843 A>G), RS1006105904 (19:12889839 T>C), RS1006150317 (19:12891875 G>A,T)

Disease associations

OMIM: gene MIM:608801 | disease phenotypes: MIM:231670, MIM:615872, MIM:613673, MIM:608804, MIM:276710

GenCC curated gene-disease

Disease	Classification	Inheritance
glutaryl-CoA dehydrogenase deficiency	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
glutaryl-CoA dehydrogenase deficiency	Definitive	AR

Mondo (6): glutaryl-CoA dehydrogenase deficiency (MONDO:0009281), primary ciliary dyskinesia 29 (MONDO:0014378), congenital dyserythropoietic anemia type 4 (MONDO:0013355), hypomyelinating leukodystrophy 2 (MONDO:0012125), tyrosinemia type III (MONDO:0010162), intellectual disability (MONDO:0001071)

Orphanet (8): Glutaryl-CoA dehydrogenase deficiency (Orphanet:25), Primary ciliary dyskinesia (Orphanet:244), Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome (Orphanet:251380), Congenital dyserythropoietic anemia type IV (Orphanet:293825), Pelizaeus-Merzbacher-like disease (Orphanet:280270), Pelizaeus-Merzbacher-like disease due to GJC2 mutation (Orphanet:280282), Tyrosinemia type 3 (Orphanet:69723), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

78 total (30 of 78 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000238	Hydrocephalus
HP:0000256	Macrocephaly
HP:0000573	Retinal hemorrhage
HP:0000726	Dementia
HP:0000737	Irritability
HP:0000750	Delayed speech and language development
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001260	Dysarthria
HP:0001263	Global developmental delay
HP:0001264	Spastic diplegia
HP:0001266	Choreoathetosis
HP:0001290	Generalized hypotonia
HP:0001298	Encephalopathy
HP:0001332	Dystonia
HP:0001334	Communicating hydrocephalus
HP:0001337	Tremor
HP:0001344	Absent speech
HP:0001373	Joint dislocation
HP:0001508	Failure to thrive
HP:0001942	Metabolic acidosis
HP:0001943	Hypoglycemia
HP:0001946	Ketosis
HP:0002015	Dysphagia
HP:0002059	Cerebral atrophy
HP:0002063	Rigidity
HP:0002072	Chorea
HP:0002086	Abnormality of the respiratory system

GWAS associations

30 associations (top):

Study	Trait	p-value
GCST000504_6	Mean corpuscular hemoglobin	1.000000e-11
GCST002595_9	Clozapine-induced agranulocytosis	1.000000e-06
GCST004601_186	Red blood cell count	4.000000e-42
GCST004602_263	Mean corpuscular volume	3.000000e-79
GCST004602_264	Mean corpuscular volume	1.000000e-10
GCST004605_77	Mean corpuscular hemoglobin concentration	1.000000e-16
GCST004619_109	Reticulocyte fraction of red cells	1.000000e-27
GCST004622_74	Reticulocyte count	2.000000e-19
GCST004630_58	Mean corpuscular hemoglobin	5.000000e-86
GCST004630_59	Mean corpuscular hemoglobin	2.000000e-10
GCST012020_536	Serum metabolite levels	2.000000e-30
GCST90002385_497	High light scatter reticulocyte count	2.000000e-14
GCST90002385_498	High light scatter reticulocyte count	1.000000e-47
GCST90002386_68	High light scatter reticulocyte percentage of red cells	2.000000e-23
GCST90002390_526	Mean corpuscular hemoglobin	4.000000e-121
GCST90002390_527	Mean corpuscular hemoglobin	1.000000e-44
GCST90002391_105	Mean corpuscular hemoglobin concentration	5.000000e-29
GCST90002392_65	Mean corpuscular volume	2.000000e-109
GCST90002392_66	Mean corpuscular volume	2.000000e-41
GCST90002396_20	Mean reticulocyte volume	3.000000e-34
GCST90002397_189	Mean spheric corpuscular volume	3.000000e-61
GCST90002397_190	Mean spheric corpuscular volume	2.000000e-11
GCST90002403_278	Red blood cell count	6.000000e-68
GCST90002403_279	Red blood cell count	2.000000e-11
GCST90002403_280	Red blood cell count	1.000000e-11
GCST90002404_564	Red cell distribution width	1.000000e-41
GCST90002404_565	Red cell distribution width	3.000000e-31
GCST90002405_535	Reticulocyte count	6.000000e-49
GCST90002406_488	Reticulocyte fraction of red cells	6.000000e-40
GCST90002406_489	Reticulocyte fraction of red cells	3.000000e-11

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004527	mean corpuscular hemoglobin
EFO:0004305	erythrocyte count
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0007986	reticulocyte count
EFO:0010701	mean reticulocyte volume
EFO:0009188	Red cell distribution width

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
C536833	Glutaric Acidemia I (supp.)
C563855	Leukodystrophy, Hypomyelinating, 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3817721 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 8,319 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1201346	BALSALAZIDE	4	8,319

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

ChEMBL bioactivities

8 potent at pChembl≥5 of 13 total, top 8 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.83	Kd	148.4	nM	CHEMBL5653589
6.77	ED50	169.5	nM	CHEMBL5653589
5.47	Kd	3400	nM	CHEMBL6172265
5.19	Kd	6480	nM	CHEMBL3752910
5.16	Kd	6900	nM	CHEMBL6159541
5.13	ED50	7401	nM	CHEMBL3752910
5.11	Kd	7700	nM	CHEMBL6146742
5.09	Kd	8200	nM	CHEMBL6148176

PubChem BioAssay actives

2 with measured affinity, of 12 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148421: Binding affinity to human GCDH incubated for 45 mins by Kinobead based pull down assay	kd	0.1484	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148421: Binding affinity to human GCDH incubated for 45 mins by Kinobead based pull down assay	kd	6.4796	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, decreases expression, increases expression	3
Benzo(a)pyrene	decreases expression, affects methylation	3
Valproic Acid	increases expression	3
Cyclosporine	decreases expression, increases expression	3
Aflatoxin B1	affects expression, decreases expression	3
bisphenol A	increases expression, decreases expression	2
cobaltous chloride	decreases expression	2
perfluorooctanoic acid	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
bisphenol F	increases expression	1
lasiocarpine	decreases expression	1
methyleugenol	decreases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
trichostatin A	affects expression	1
di-n-butylphosphoric acid	affects expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	decreases ADP-ribosylation	1
perfluoro-n-nonanoic acid	decreases expression	1
bisphenol B	increases expression	1
bisphenol S	increases expression	1
jinfukang	affects cotreatment, increases expression	1
NSC 689534	affects binding, decreases expression	1
bisphenol AF	increases expression	1
Acetaminophen	increases expression	1
Arsenic	affects methylation	1
Atrazine	decreases expression	1
Cisplatin	affects cotreatment, increases expression	1
Copper	affects binding, decreases expression	1
Gold	affects binding, decreases expression	1
Phenobarbital	decreases expression	1

ChEMBL screening assays

15 unique, capped per target: 14 binding, 1 admet

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3821393	ADMET	Binding affinity to GCDH in human HepG2 assessed as intensity fold change of cumulated normalized intensity of protein between capture and competition assay at 100 uM after 1 hr in presence of active Tcp-CC-13 by differential competition ca	Identification of Potential Off-target Toxicity Liabilities of Catechol-O-methyltransferase Inhibitors by Differential Competition Capture Compound Mass Spectrometry. — J Med Chem
CHEMBL5118487	Binding	Binding affinity to GCDH in human MCF7 cell lysate by pull down assay based LC-MS/MS analysis	Development of hetero-triaryls as a new chemotype for subtype-selective and potent Sirt5 inhibition. — Eur J Med Chem

Cellosaurus cell lines

18 cell lines: 11 finite cell line, 6 cancer cell line, 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_AT07	GM05002	Finite cell line	Male
CVCL_AT09	GM10650	Finite cell line	Female
CVCL_AT10	GM10652	Finite cell line	Male
CVCL_AT11	GM10653	Finite cell line	Female
CVCL_AT12	GM12028	Finite cell line	Sex unspecified
CVCL_AT13	GM12029	Finite cell line	Sex unspecified
CVCL_AT39	GM16392	Finite cell line	Female
CVCL_AT40	GM16393	Finite cell line	Female
CVCL_AT41	GM16394	Finite cell line	Male
CVCL_AT42	GM16395	Finite cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	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	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT06217861	PHASE1	RECRUITING	A Study to Evaluate the Tolerability, Safety and Efficacy of VGM-R02b
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT05910151	Not specified	UNKNOWN	Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
NCT04196959	Not specified	COMPLETED	Evaluation of TYR Sphere
NCT06298292	Not specified	NOT_YET_RECRUITING	Acceptability/Tolerance of Protein Substitutes in Tablet Form for the Dietary Management of Rare Aminoacidopathies
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	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