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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: Metabolism, Inborn Errors (D008661)
..Starting node ..3-Methylglutaconic Aciduria, Type I (C562801)
Child Nodes:
Sister Nodes:
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)
..3-Hydroxyacyl-CoA Dehydrogenase Deficiency (C535310)
..3-Methylglutaconic Aciduria (C579867)
..3-Methylglutaconic Aciduria Type IV (C565393)
..3-Methylglutaconic Aciduria, Type I (C562801)
..3-Methylglutaconic Aciduria, Type V (C565706)
..5-Nucleotidase syndrome (C535321)
..6-Phosphogluconolactonase Deficiency (C566803)
..Acetylcarnitine deficiency (C536006)
..Acholinesterasemia (C566750)
..Acid Phosphatase Deficiency (C562645)
..Adenine phosphoribosyltransferase deficiency (C538228)
..AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (OMIM:608688)
..alpha-Fetoprotein Deficiency (C566300)
..Amino Acid Metabolism, Inborn Errors (D000592) 169
..Amino Acid Transport Disorders, Inborn (D020157) 3
..Amobarbital, Deficient N-Hydroxylation of (C565959)
..Amyloidosis, Familial (D028226) 13
..Arene Oxide Detoxification Defect (C565043)
..Aromatase deficiency (C537436)
..Aryl Hydrocarbon Hydroxylase Inducibility (C566250)
..BISPHOSPHOGLYCERATE MUTASE DEFICIENCY (OMIM:222800)
..Brain Diseases, Metabolic, Inborn (D020739) 218
..Butyrylcholinesterase deficiency (C537417)
..Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type (C566751)
..Carbohydrate Metabolism, Inborn Errors (D002239) 169
..Carnitine Acetyltransferase Deficiency (C563249)
..Carnitine palmitoyl transferase 2 deficiency (C535589)
..Chromate Resistance (C566125)
..COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
..Combined Malonic and Methylmalonic Aciduria (C580002)
..Combined Oxidative Phosphorylation Deficiency 1 (C563797)
..Combined Oxidative Phosphorylation Deficiency 4 (C565690)
..Combined Oxidative Phosphorylation Deficiency 5 (C567126)
..Congenital chloride diarrhea (C536210)
..Copper deficiency, familial benign (C535468)
..Costeff optic atrophy syndrome (C535311)
..Coumarin Resistance (C563039)
..Coumarin Sensitivity (C567276)
..CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
..Cytochrome-c Oxidase Deficiency (D030401) 2
..Deafness hyperuricemia neurologic ataxia (C535995)
..Deoxyribose-5-Phosphate Aldolase Deficiency (C565112)
..Diarrhea 3, Secretory Sodium, Congenital (C562576)
..Diarrhea 3, Secretory Sodium, Congenital, Syndromic (C567490)
..Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
..Dihydropyrimidinase Deficiency (C562815)
..Diphenylhydantoin, Defect in Hydroxylation of (C565044)
..Drug Metabolism, Poor, CYP2C19-Related (C563703)
..Drug Metabolism, Poor, CYP2D6-Related (C563835)
..Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..Enterokinase Deficiency (C562649)
..Ethanolaminosis (C562651)
..Familial gynecomastia, due to increased aromatase activity (C000591739)
..Finnish lethal neonatal metabolic syndrome (C537934)
..Fumaric aciduria (C538191)
..Glucocorticoid Receptor Deficiency (C564221)
..Glutamate formiminotransferase deficiency (C537425)
..Glycoprotein Storage Disease (C565538)
..Glyoxalase II Deficiency (C564215)
..Growth Factors, Combined Defect of (C565529)
..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
..Hyaluronan Metabolism, Defect in (C565742)
..Hyperbilirubinemia, Hereditary (D006933) 7
..Hypercalcemia, Idiopathic, of Infancy (C562581)
..HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
..Hypoadiponectinemia (C567258)
..Hypokalemia, Familial (C562654)
..Hypoproteinemia, Hypercatabolic (C565476)
..Inosine Triphosphatase Deficiency (C564127)
..Intrinsic Factor and R Binder, Combined Congenital Deficiency of (C565461)
..Kallikrein, Decreased Urinary Activity of (C563653)
..L-Gulonolactone Oxidase, Nonfunctional (C565486)
..Lactate Dehydrogenase B Deficiency (C563641)
..Lactic Aciduria due to D-Lactic Acid (C565446)
..Leukotriene C4 Synthase Deficiency (C565439)
..Lipid Metabolism, Inborn Errors (D008052) 135
..LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016)
..Lysosomal Storage Diseases (D016464) 106
..Malonic aciduria (C535702)
..Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type (C563601)
..Mannose-Binding Protein Deficiency (C563602)
..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..Metal Metabolism, Inborn Errors (D008664) 55
..Methemoglobin Reductase Deficiency (C563171)
..Methylcobalamin Deficiency, CblG Type (C565394)
..Methylmalonyl-Coenzyme A mutase deficiency (C537573)
..Mitochondrial Complex II Deficiency (C565375)
..Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
..Myeloperoxidase Deficiency (C562864)
..N acetyltransferase deficiency (C536107)
..Pancreatic Insufficiency, Combined Exocrine (C564907)
..Peroxisomal Disorders (D018901) 39
..Phenacetin O-Deethylase, Deficiency of (C565127)
..Phenol sulfotransferase deficiency (C537895)
..Phosphoglycerate Kinase 1 Deficiency (C567067)
..Porphyrias (D011164) 18
..Progeria (D011371) 11
..Proguanil, Poor Metabolism of (C563704)
..Purine-Pyrimidine Metabolism, Inborn Errors (D011686) 24
..Renal Tubular Transport, Inborn Errors (D015499) 76
..Retinol-Binding Protein Deficiency (C566711)
..Steroid Metabolism, Inborn Errors (D043202) 34
..Stomatocytosis I (C566111)
..Stomatocytosis II (C566110)
..Succinic Acidemia (C563952)
..THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
..Transcobalamin I Deficiency (C562798)
..Trimethylaminuria (C536561)
..Warfarin Sensitivity (C567080)
..Weinstein Kliman Scully syndrome (C536688)
..Wiedemann Oldigs Oppermann syndrome (C536705)
..Xanthinuria, Type I (C562584)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

Name:

3-Methylglutaconic Aciduria, Type I

Definition:

Alternative IDs:

OMIM:250950

ParentIDs:

MESH:D008661

TreeNumbers:

C16.320.565/C562801 |C18.452.648/C562801

Synonyms:

3-Methylglutaconyl-CoA Hydratase Deficiency |3-Mg-CoA-Hydratase Deficiency |MGA1 |MGA, Type I |MGCA1

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C562801
MeSH: C562801
OMIM: 250950;

Genes: AUH;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0003535	3-Methylglutaconic aciduria
4	HP:0001251	Ataxia
5	HP:0002305	Athetosis
6	HP:0002059	Cerebral atrophy
7	HP:0100543	Cognitive impairment
8	HP:0000750	Delayed speech and language development
9	HP:0001260	Dysarthria
10	HP:0001332	Dystonia
11	HP:0001508	Failure to thrive
12	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
13	HP:0001263	Global developmental delay	HP:0040283
14	HP:0001347	Hyperreflexia
15	HP:0002352	Leukoencephalopathy
16	HP:0001942	Metabolic acidosis
17	HP:0001270	Motor delay
18	HP:0000648	Optic atrophy
19	HP:0003812	Phenotypic variability
20	HP:0000736	Short attention span
21	HP:0002510	Spastic tetraplegia
22	HP:0000020	Urinary incontinence

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_001698.2(AUH):c.991A>T (p.Lys331Ter)	549	AUH	Pathogenic	387906757	RCV000022984;	N	MedGen:C0342727,OMIM:250950,ORPHA:67046,SNOMED CT:237950009	9	93976659	93976659	NM_001698.2:c.991A>T	NP_001689.1:p.Lys331Ter	NC_000009.11:g.93976659T>A	OMIM Allelic Variant:600529.0008	C0342727 250950 3-Methylglutaconic aciduria
NM_001698.2(AUH):c.943-2A>G	549	AUH	Pathogenic	730880312	RCV000009627;	N	MedGen:C0342727,OMIM:250950,ORPHA:67046,SNOMED CT:237950009	9	93976709	93976709	NM_001698.2:c.943-2A>G		NC_000009.11:g.93976709T>C	OMIM Allelic Variant:600529.0005	C0342727 250950 3-Methylglutaconic aciduria
NM_001698.2(AUH):c.895-1G>A	549	AUH	Pathogenic	730880309	RCV000009624;	N	MedGen:C0342727,OMIM:250950,ORPHA:67046,SNOMED CT:237950009	9	93978389	93978389	NM_001698.2:c.895-1G>A		NC_000009.11:g.93978389C>T	OMIM Allelic Variant:600529.0002	C0342727 250950 3-Methylglutaconic aciduria
NM_001698.2(AUH):c.650G>A (p.Gly217Asp)	549	AUH	Pathogenic	387906756	RCV000022983;	N	MedGen:C0342727,OMIM:250950,ORPHA:67046,SNOMED CT:237950009	9	94058308	94058308	NM_001698.2:c.650G>A	NP_001689.1:p.Gly217Asp	NC_000009.11:g.94058308C>T	OMIM Allelic Variant:600529.0007	C0342727 250950 3-Methylglutaconic aciduria
NM_001698.2(AUH):c.589C>T (p.Arg197Ter)	549	AUH	Pathogenic	121434636	RCV000009623;	N	MedGen:C0342727,OMIM:250950,ORPHA:67046,SNOMED CT:237950009	9	94060275	94060275	NM_001698.2:c.589C>T	NP_001689.1:p.Arg197Ter	NC_000009.11:g.94060275G>A	OMIM Allelic Variant:600529.0001	C0342727 250950 3-Methylglutaconic aciduria
NM_001698.2(AUH):c.559G>A (p.Gly187Ser)	549	AUH	Pathogenic	387906755	RCV000022982; RCV000196605;	N	MedGen:C0342727,OMIM:250950,ORPHA:67046,SNOMED CT:237950009; MedGen:CN221809	9	94060305	94060305	NM_001698.2:c.559G>A	NP_001689.1:p.Gly187Ser	NC_000009.11:g.94060305C>T	OMIM Allelic Variant:600529.0006	C0342727 250950 3-Methylglutaconic aciduria; CN221809 not provided
NM_001698.2(AUH):c.373C>T (p.Arg125Trp)	549	AUH	Likely pathogenic	200030276	RCV000190355;	N	MedGen:C0342727,OMIM:250950,ORPHA:67046,SNOMED CT:237950009	9	94118210	94118210	NM_001698.2:c.373C>T	NP_001689.1:p.Arg125Trp	NC_000009.11:g.94118210G>A	-	C0342727 250950 3-Methylglutaconic aciduria
NM_001698.2(AUH):c.263-2A>G	549	AUH	Pathogenic	730880311	RCV000009626;	N	MedGen:C0342727,OMIM:250950,ORPHA:67046,SNOMED CT:237950009	9	94118439	94118439	NM_001698.2:c.263-2A>G		NC_000009.11:g.94118439T>C	OMIM Allelic Variant:600529.0004	C0342727 250950 3-Methylglutaconic aciduria
NM_001698.2(AUH):c.80delG (p.Ser27Metfs)	549	AUH	Pathogenic	730880310	RCV000009625;	N	MedGen:C0342727,OMIM:250950,ORPHA:67046,SNOMED CT:237950009	9	94124092	94124092	NM_001698.2:c.80delG	NP_001689.1:p.Ser27Metfs	NC_000009.11:g.94124092delC	OMIM Allelic Variant:600529.0003	C0342727 250950 3-Methylglutaconic aciduria