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	3-methylglutaconic aciduria

Disease ID	1073
Disease	3-methylglutaconic aciduria
Definition	A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine.
Synonym	3-@methylglutaconic aciduria 3-methylglutaconic aciduria (disorder) 3mga (3-methylglutaconic aciduria)
Orphanet	ORPHANET:289902
DOID	DOID:0060336
ICD10	ICD10CM:E71.111
UMLS	C3696376
SNOMED-CT	SNOMEDCT_US_2016_09_01:237950009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0018784 \| sensorineural deafness \| 2 C0155550 \| neural deafness \| 2 C0162670 \| mitochondrial cytopathy \| 1 C0342773 \| pearson marrow-pancreas syndrome \| 1 C0001125 \| lactic acidosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 6901 \| TAZ \| UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:67) 26090 \| ABHD12 \| 2.628 \| DISEASES 36 \| ACADSB \| 3.075 \| DISEASES 103 \| ADAR \| 1.434 \| DISEASES 55750 \| AGK \| 3.484 \| DISEASES 488 \| ATP2A2 \| 1.17 \| DISEASES 522 \| ATP5J \| 2.032 \| DISEASES 91647 \| ATPAF2 \| 5.385 \| DISEASES 549 \| AUH \| 6.315 \| DISEASES 6792 \| CDKL5 \| 1.611 \| DISEASES 1120 \| CHKB \| 2.502 \| DISEASES 1373 \| CPS1 \| 2.836 \| DISEASES 8029 \| CUBN \| 4.575 \| DISEASES 113612 \| CYP2U1 \| 2.813 \| DISEASES 55157 \| DARS2 \| 2.793 \| DISEASES 80821 \| DDHD1 \| 2.987 \| DISEASES 23259 \| DDHD2 \| 2.739 \| DISEASES 1717 \| DHCR7 \| 1.472 \| DISEASES 1760 \| DMPK \| 1.316 \| DISEASES 131118 \| DNAJC19 \| 6.119 \| DISEASES 8291 \| DYSF \| 1.337 \| DISEASES 124454 \| EARS2 \| 2.137 \| DISEASES 1946 \| EFNA5 \| 1.995 \| DISEASES 2009 \| EML1 \| 2.746 \| DISEASES 2632 \| GBE1 \| 1.643 \| DISEASES 26088 \| GGA1 \| 2.888 \| DISEASES 29933 \| GPR132 \| 1.578 \| DISEASES 10456 \| HAX1 \| 1.751 \| DISEASES 3155 \| HMGCL \| 3.527 \| DISEASES 3158 \| HMGCS2 \| 2.461 \| DISEASES 3295 \| HSD17B4 \| 1.956 \| DISEASES 10989 \| IMMT \| 1.768 \| DISEASES 11155 \| LDB3 \| 1.282 \| DISEASES 4190 \| MDH1 \| 2.455 \| DISEASES 8972 \| MGAM \| 1.124 \| DISEASES 4508 \| MT-ATP6 \| 3.401 \| DISEASES 4509 \| MT-ATP8 \| 3.244 \| DISEASES 4535 \| MT-ND1 \| 1.753 \| DISEASES 4537 \| MT-ND3 \| 1.984 \| DISEASES 4538 \| MT-ND4 \| 1.806 \| DISEASES 4540 \| MT-ND5 \| 1.615 \| DISEASES 4607 \| MYBPC3 \| 1.306 \| DISEASES 4723 \| NDUFV1 \| 2.548 \| DISEASES 4942 \| OAT \| 1.09 \| DISEASES 25973 \| PARS2 \| 3.243 \| DISEASES 5091 \| PC \| 1.629 \| DISEASES 5160 \| PDHA1 \| 1.994 \| DISEASES 5830 \| PEX5 \| 1.419 \| DISEASES 5209 \| PFKFB3 \| 2.019 \| DISEASES 5213 \| PFKM \| 1.91 \| DISEASES 23556 \| PIGN \| 2.051 \| DISEASES 10908 \| PNPLA6 \| 1.449 \| DISEASES 5725 \| PTBP1 \| 1.799 \| DISEASES 9791 \| PTDSS1 \| 2.968 \| DISEASES 57038 \| RARS2 \| 2.631 \| DISEASES 79641 \| ROGDI \| 3.126 \| DISEASES 6120 \| RPE \| 3.911 \| DISEASES 6261 \| RYR1 \| 1.347 \| DISEASES 84947 \| SERAC1 \| 6.707 \| DISEASES 8604 \| SLC25A12 \| 2.713 \| DISEASES 788 \| SLC25A20 \| 2.007 \| DISEASES 8803 \| SUCLA2 \| 2.442 \| DISEASES 8801 \| SUCLG2 \| 1.767 \| DISEASES 1678 \| TIMM8A \| 1.954 \| DISEASES 7086 \| TKT \| 1.518 \| DISEASES 55863 \| TMEM126B \| 3.996 \| DISEASES 7407 \| VARS \| 2.713 \| DISEASES 57176 \| VARS2 \| 2.947 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1073
Disease	3-methylglutaconic aciduria
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0001298 \| Encephalopathy \| 3 HP:0000365 \| Hearing impairment \| 3 HP:0000407 \| sensorineural hearing loss \| 2 HP:0003128 \| Lactic acidosis \| 1 HP:0001941 \| acidemia \| 1

Disease ID	1073
Disease	3-methylglutaconic aciduria
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0235820 \| neonatal encephalopathy
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0235820 \| neonatal encephalopathy \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1073
Disease	3-methylglutaconic aciduria
Case	(Waiting for update.)

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