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	isovaleric acidemia

Disease ID	343
Disease	isovaleric acidemia
Definition	autosomal recessive aminoacidopathy due to deficiency of isovaleryl-CoA dehydrogenase, with elevated plasma isovaleric acid and urinary isovaleric acid and isovalerylglycine, causing a characteristic odor of sweaty feet; clinical signs include severe acidosis and ketosis, lethargy, convulsions, pernicious vomiting, thrombocytopenia, neutropenia, and pancytopenia.
Synonym	acidemia, isovaleric isovaleric acid coa dehydrogenase deficiency isovaleric acid-coa dehydrogenase deficiency isovaleric acidaemia isovalericacidemia isovaleryl coa carboxylase deficiency isovaleryl coa dehydrogenase deficiency isovaleryl-coa dehydrogenase deficiency isovaleryl-coa dehydrogenase deficiency (disorder) isovaleryl-coenzyme a dehydrogenase deficiency isovaleryl-coenzyme a dehydrogenase deficiency (disorder) iva ivd deficiency
Orphanet	ORPHANET:33
OMIM	OMIM:243500
DOID	DOID:14753
ICD10	ICD10CM:E71.110
UMLS	C0268575
SNOMED-CT	SNOMEDCT_US_2016_09_01:87827003
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 3712 \| IVD \| CLINVAR;CTD_human;GHR;UNIPROT;ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:19) 36 \| ACADSB \| 6.339 \| DISEASES 37 \| ACADVL \| 2.334 \| DISEASES 383 \| ARG1 \| 1.82 \| DISEASES 53335 \| BCL11A \| 2.24 \| DISEASES 831 \| CAST \| 2.117 \| DISEASES 875 \| CBS \| 1.227 \| DISEASES 1644 \| DDC \| 1.926 \| DISEASES 2108 \| ETFA \| 2.715 \| DISEASES 2271 \| FH \| 2.073 \| DISEASES 2328 \| FMO3 \| 3.125 \| DISEASES 3033 \| HADH \| 2.298 \| DISEASES 3030 \| HADHA \| 1.583 \| DISEASES 3155 \| HMGCL \| 5.176 \| DISEASES 3712 \| IVD \| 6.39 \| DISEASES 11133 \| KPTN \| 3.746 \| DISEASES 5091 \| PC \| 2.232 \| DISEASES 5096 \| PCCB \| 2.883 \| DISEASES 10165 \| SLC25A13 \| 3.177 \| DISEASES 55553 \| SOX6 \| 2.69 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) IVD \| 15q15.1

Disease ID	343
Disease	isovaleric acidemia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:3) HP:0001263 \| Global developmental delay HP:0001250 \| Seizures HP:0001942 \| Metabolic acidosis
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0001987 \| Hyperammonemia \| 2

Disease ID	343
Disease	isovaleric acidemia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C0241775 \| organic aciduria C0030312 \| pancytopenia C0023380 \| lethargy
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:16)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113488022	23682579	673	BRAF	umls:C0268575	BeFree	In contrast, age- and size-matched classic papillary microcarcinomas (n=26) showed no extrathyroidal extension (p=0.002), lymphovascular invasion in 1, central compartment lymph node metastasis in 2, lateral cervical node metastasis in 1, multifocal tumors in 10 (38.5%), the BRAF(V600E) mutation in 20 (76.9%), and it infrequently presented in stage III/IVA (7.7%, p=0.02).	0.000271442	2014	BRAF	7	140753336	A	T,G,C
rs118204443	9385378	2588	GALNS	umls:C0268575	BeFree	A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA.	0.002714419	1997	GALNS	16	88832099	C	A
rs142761835	NA	3712	IVD	umls:C0268575	CLINVAR	NA	0.484614512	NA	IVD	15	40410699	G	A
rs142761835	22350545	3712	IVD	umls:C0268575	UNIPROT	IVA is caused by an autosomal recessive deficiency of isovaleryl-CoA dehydrogenase (IVD) resulting in the accumulation of isovaleryl-CoA and its metabolites.	0.484614512	2012	IVD	15	40410699	G	A
rs2229311	NA	3712	IVD	umls:C0268575	CLINVAR	NA	0.484614512	NA	IVD	15	40407640	G	A,C
rs28940889	9665741	3712	IVD	umls:C0268575	UNIPROT	Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia.	0.484614512	1998	IVD	15	40415454	C	T
rs28940889	NA	3712	IVD	umls:C0268575	CLINVAR	NA	0.484614512	NA	IVD	15	40415454	C	T
rs34695403	NA	3712	IVD	umls:C0268575	CLINVAR	NA	0.484614512	NA	IVD	15	40407639	C	G,T
rs398123680	NA	3712	IVD	umls:C0268575	CLINVAR	NA	0.484614512	NA	IVD	15	40416356	T	C
rs398123682	NA	3712	IVD	umls:C0268575	CLINVAR	NA	0.484614512	NA	IVD	15	40410738	TG	-
rs398123683	NA	3712	IVD	umls:C0268575	CLINVAR	NA	0.484614512	NA	IVD	15	40410799	T	C
rs398123684	NA	3712	IVD	umls:C0268575	CLINVAR	NA	0.484614512	NA	IVD	15	40411301	G	-
rs763471771	NA	3712	IVD	umls:C0268575	CLINVAR	NA	0.484614512	NA	IVD	15	40413088	G	A
rs771914739	NA	3712	IVD	umls:C0268575	CLINVAR	NA	0.484614512	NA	IVD	15	40411258	A	C,G
rs786204427	NA	3712	IVD	umls:C0268575	CLINVAR	NA	0.484614512	NA	NA	NA	NA	NA	NA
rs786204613	NA	3712	IVD	umls:C0268575	CLINVAR	NA	0.484614512	NA	IVD	15	40418170	T	-

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

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

Mapped by lexical matching(Total Items:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001942	Metabolic acidosis	MP:0012551	metabolic acidosis	decreased pH and bicarbonate concentration in tissues and/or body fluids caused when the body produces too much acid or when the kidneys are not removing enough acid from the body, as in diarrhea or in kidney disease
HP:0001263	Global developmental delay	MP:0002084	abnormal developmental patterning	abnormal systematic arrangement of the developing body along an axis

Mapped by homologous gene(Total Items:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001942	Metabolic acidosis	MP:0014206	decreased intestinal epithelial sodium ion transmembrane transport
HP:0001263	Global developmental delay	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001250	Seizures	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l

Disease ID	343
Disease	isovaleric acidemia
Case	(Waiting for update.)

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