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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Amino Acid Metabolism, Inborn Errors (D000592)
Parent Node: Brain Diseases, Metabolic (D001928)
..Starting node ..Glutaric aciduria 1 (C536833)
Child Nodes:
Sister Nodes:
..Brain Diseases, Metabolic, Inborn (D020739) 218
..Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
..Ethanolaminosis (C562651)
..Glutaric aciduria 1 (C536833)
..Hepatic Encephalopathy (D006501) 2
..Kernicterus (D007647)
..Marchiafava-Bignami Disease (D054319)
..Mitochondrial Encephalomyopathies (D017237) 13
..Myelinolysis, Central Pontine (D017590)
..Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
..Reye Syndrome (D012202)
..Schofer Beetz Bohl syndrome (C535949)
..Wernicke Encephalopathy (D014899)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4692

Name:

Glutaric aciduria 1

Definition:

Alternative IDs:

OMIM:231670

ParentIDs:

MESH:D000592|MESH:D001928

TreeNumbers:

C10.228.140.163/C536833 |C16.320.565.100/C536833 |C18.452.132/C536833 |C18.452.648.100/C536833

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: C536833
MeSH: C536833
OMIM: 231670;

Genes: GCDH;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001266	Choreoathetosis
3	HP:0012448	Delayed myelination
4	HP:0006956	Dilation of lateral ventricles
5	HP:0001332	Dystonia
6	HP:0003530	Elevated circulating glutaric acid concentration
7	HP:0001508	Failure to thrive
8	HP:0001290	Generalized hypotonia
9	HP:0003150	Glutaric aciduria
10	HP:0002240	Hepatomegaly
11	HP:0001943	Hypoglycemia
12	HP:0001252	Hypotonia
13	HP:0007105	Infantile encephalopathy
14	HP:0002919	Ketonuria
15	HP:0001946	Ketosis
16	HP:0000256	Macrocephaly
17	HP:0001942	Metabolic acidosis
18	HP:0002179	Opisthotonus
19	HP:0002063	Rigidity
20	HP:0001250	Seizure	HP:0040283
21	HP:0001264	Spastic diplegia
22	HP:0006873	Symmetrical progressive peripheral demyelination

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000159.3(GCDH):c.1244-2A>C	-1	-	Pathogenic	199999619	RCV000174223;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13010280	13010280	NM_000159.3:c.1244-2A>C		NC_000019.9:g.13010280A>C	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.1247C>T (p.Thr416Ile)	-1	-	Pathogenic	121434368	RCV000002165;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13010285	13010285	NM_000159.3:c.1247C>T	NP_000150.1:p.Thr416Ile	NC_000019.9:g.13010285C>T	OMIM Allelic Variant:608801.0003	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.1262C>T (p.Ala421Val)	-1	-	Pathogenic	121434367	RCV000002163;	Y	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13010300	13010300	NM_000159.3:c.1262C>T	NP_000150.1:p.Ala421Val	NC_000019.9:g.13010300C>T	OMIM Allelic Variant:608801.0002	C0268595 231670 Glutaric aciduria, type 1
NM_013976.3(GCDH):c.1250A>G (p.Gln417Arg)	-1	-	Likely pathogenic	8012	RCV000190518;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13010520	13010520	NM_013976.3:c.1250A>G	NP_039663.1:p.Gln417Arg	NC_000019.9:g.13010520A>G	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.*288G>T	-1	-	Likely pathogenic	9384	RCV000190519;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13010643	13010643	NM_000159.3:c.*288G>T		NC_000019.9:g.13010643G>T	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.*331T>C	-1	-	Uncertain significance	869025297	RCV000207436;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13010686	13010686	NM_000159.3:c.*331T>C		NC_000019.9:g.13010686T>C	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.*332C>A	-1	-	Uncertain significance	869025298	RCV000207373;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13010687	13010687	NM_000159.3:c.*332C>A		NC_000019.9:g.13010687C>A	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.*340G>A	-1	-	Uncertain significance	190174770	RCV000207400;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13010695	13010695	NM_000159.3:c.*340G>A		NC_000019.9:g.13010695G>A	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.262C>T (p.Arg88Cys)	2639	GCDH	Likely pathogenic	142967670	RCV000169574;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13002779	13002779	NM_000159.3:c.262C>T	NP_000150.1:p.Arg88Cys	NC_000019.9:g.13002779C>T	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.271+1G>A	2639	GCDH	Likely pathogenic	786204639	RCV000169420;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13002789	13002789	NM_000159.3:c.271+1G>A		NC_000019.9:g.13002789G>A	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.383G>A (p.Arg128Gln)	2639	GCDH	Likely pathogenic	755586631	RCV000169460;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13004345	13004345	NM_000159.3:c.383G>A	NP_000150.1:p.Arg128Gln	NC_000019.9:g.13004345G>A	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.416C>T (p.Ser139Leu)	2639	GCDH	Likely pathogenic	139851890	RCV000169288;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13004378	13004378	NM_000159.3:c.416C>T	NP_000150.1:p.Ser139Leu	NC_000019.9:g.13004378C>T	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.482G>A (p.Arg161Gln)	2639	GCDH	Likely pathogenic	777201305	RCV000169118;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13004444	13004444	NM_000159.3:c.482G>A	NP_000150.1:p.Arg161Gln	NC_000019.9:g.13004444G>A	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.533G>A (p.Gly178Glu)	2639	GCDH	Likely pathogenic	786204627	RCV000169399;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13006833	13006833	NM_000159.3:c.533G>A	NP_000150.1:p.Gly178Glu	NC_000019.9:g.13006833G>A	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.542A>G (p.Glu181Gly)	2639	GCDH	Pathogenic	398123194	RCV000179724; RCV000078254;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005; MedGen:CN221809	19	13006842	13006842	NM_000159.3:c.542A>G	NP_000150.1:p.Glu181Gly	NC_000019.9:g.13006842A>G	HGMD:CM081270	C0268595 231670 Glutaric aciduria, type 1; CN221809 not provided
NM_000159.3(GCDH):c.572T>C (p.Met191Thr)	2639	GCDH	Likely pathogenic	149120354	RCV000179723;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13006872	13006872	NM_000159.3:c.572T>C	NP_000150.1:p.Met191Thr	NC_000019.9:g.13006872T>C	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.636-1G>A	2639	GCDH	Pathogenic	398123195	RCV000180102; RCV000078255;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005; MedGen:CN221809	19	13007018	13007018	NM_000159.3:c.636-1G>A		NC_000019.9:g.13007018G>A	HGMD:CS000458	C0268595 231670 Glutaric aciduria, type 1; CN221809 not provided
NM_000159.3(GCDH):c.675G>A (p.Trp225Ter)	2639	GCDH	Pathogenic	786205862	RCV000171558;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13007058	13007058	NM_000159.3:c.675G>A	NP_000150.1:p.Trp225Ter	NC_000019.9:g.13007058G>A	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.680G>C (p.Arg227Pro)	2639	GCDH	Likely pathogenic;Pathogenic	121434373	RCV000002170; RCV000078256;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005; MedGen:CN221809	19	13007063	13007063	NM_000159.3:c.680G>C	NP_000150.1:p.Arg227Pro	NC_000019.9:g.13007063G>C	HGMD:CM960711,OMIM Allelic Variant:608801.0009	C0268595 231670 Glutaric aciduria, type 1; CN221809 not provided
NM_000159.3(GCDH):c.769C>T (p.Arg257Trp)	2639	GCDH	Likely pathogenic	766518430	RCV000169226;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13007152	13007152	NM_000159.3:c.769C>T	NP_000150.1:p.Arg257Trp	NC_000019.9:g.13007152C>T	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.795_796insCTATGATCATC (p.Met266Leufs)	2639	GCDH	Pathogenic	869025300	RCV000207382;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13007178	13007179	NM_000159.3:c.795_796insCTATGATCATC	NP_000150.1:p.Met266Leufs	NC_000019.9:g.13007178_13007179insCTATGATCATC	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.826G>T (p.Val276Leu)	2639	GCDH	Uncertain significance	763300541	RCV000211677;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13007209	13007209	NM_000159.3:c.826G>T	NP_000150.1:p.Val276Leu	NC_000019.9:g.13007209G>T	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.852+223C>T	2639	GCDH	Likely pathogenic	11085825	RCV000207433;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13007458	13007458	NM_000159.3:c.852+223C>T		NC_000019.9:g.13007458C>T	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.856C>T (p.Pro286Ser)	2639	GCDH	Likely pathogenic	786205861	RCV000171557;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13007727	13007727	NM_000159.3:c.856C>T	NP_000150.1:p.Pro286Ser	NC_000019.9:g.13007727C>T	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.877G>A (p.Ala293Thr)	2639	GCDH	Pathogenic	121434371	RCV000002164; RCV000153311;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005; MedGen:CN221809	19	13007748	13007748	NM_000159.3:c.877G>A	NP_000150.1:p.Ala293Thr	NC_000019.9:g.13007748G>A	HGMD:CM960713,OMIM Allelic Variant:608801.0007	C0268595 231670 Glutaric aciduria, type 1; CN221809 not provided
NM_000159.3(GCDH):c.883T>C (p.Tyr295His)	2639	GCDH	Pathogenic	121434366	RCV000002162;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13007754	13007754	NM_000159.3:c.883T>C	NP_000150.1:p.Tyr295His	NC_000019.9:g.13007754T>C	OMIM Allelic Variant:608801.0001	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.885C>T (p.Tyr295=)	2639	GCDH	Uncertain significance	139192015	RCV000171559;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13007756	13007756	NM_000159.3:c.885C>T	NP_000150.1:p.Tyr295=	NC_000019.9:g.13007756C>T	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.1031C>T (p.Thr344Ile)	2639	GCDH	Likely pathogenic	869025299	RCV000207408;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13008191	13008191	NM_000159.3:c.1031C>T	NP_000150.1:p.Thr344Ile	NC_000019.9:g.13008191C>T	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.1060G>A (p.Gly354Ser)	2639	GCDH	Likely pathogenic	768925619	RCV000169320;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13008220	13008220	NM_000159.3:c.1060G>A	NP_000150.1:p.Gly354Ser	NC_000019.9:g.13008220G>A	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.1093G>A (p.Glu365Lys)	2639	GCDH	Pathogenic	121434370	RCV000002167;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13008527	13008527	NM_000159.3:c.1093G>A	NP_000150.1:p.Glu365Lys	NC_000019.9:g.13008527G>A	OMIM Allelic Variant:608801.0005	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.1147C>T (p.Arg383Cys)	2639	GCDH	Likely pathogenic	150938052	RCV000169204;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13008581	13008581	NM_000159.3:c.1147C>T	NP_000150.1:p.Arg383Cys	NC_000019.9:g.13008581C>T	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.1168G>C (p.Gly390Arg)	2639	GCDH	Pathogenic	372983141	RCV000173983;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13008602	13008602	NM_000159.3:c.1168G>C	NP_000150.1:p.Gly390Arg	NC_000019.9:g.13008602G>C	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.1198G>A (p.Val400Met)	2639	GCDH	Pathogenic	121434372	RCV000002169;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13008632	13008632	NM_000159.3:c.1198G>A	NP_000150.1:p.Val400Met	NC_000019.9:g.13008632G>A	OMIM Allelic Variant:608801.0008	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.1204C>T (p.Arg402Trp)	2639	GCDH	Pathogenic	121434369	RCV000002166;	Y	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13008638	13008638	NM_000159.3:c.1204C>T	NP_000150.1:p.Arg402Trp	NC_000019.9:g.13008638C>T	OMIM Allelic Variant:608801.0004	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.1205G>A (p.Arg402Gln)	2639	GCDH	Likely pathogenic	786204626	RCV000169398;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13008639	13008639	NM_000159.3:c.1205G>A	NP_000150.1:p.Arg402Gln	NC_000019.9:g.13008639G>A	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.1213A>G (p.Met405Val)	2639	GCDH	Pathogenic	141437721	RCV000173982;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13008647	13008647	NM_000159.3:c.1213A>G	NP_000150.1:p.Met405Val	NC_000019.9:g.13008647A>G	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.1239C>A (p.Tyr413Ter)	2639	GCDH	Likely pathogenic	776082304	RCV000169467;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005	19	13008673	13008673	NM_000159.3:c.1239C>A	NP_000150.1:p.Tyr413Ter	NC_000019.9:g.13008673C>A	-	C0268595 231670 Glutaric aciduria, type 1
NM_000159.3(GCDH):c.1240G>A (p.Glu414Lys)	2639	GCDH	Pathogenic	147611168	RCV000173984; RCV000153312;	N	MedGen:C0268595,OMIM:231670,ORPHA:25,SNOMED CT:360416003,SNOMED CT:76175005; MedGen:CN221809	19	13008674	13008674	NM_000159.3:c.1240G>A	NP_000150.1:p.Glu414Lys	NC_000019.9:g.13008674G>A	HGMD:CM960720	C0268595 231670 Glutaric aciduria, type 1; CN221809 not provided