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	alpha-methylacetoacetic aciduria

Disease ID	1134
Disease	alpha-methylacetoacetic aciduria
Definition	A rare autosomal recessive inherited disorder caused by mutations in the ACAT1 gene. It is characterized by the reduction or elimination of the enzyme mitochondrial acetoacetyl-CoA thiolase which is responsible for the metabolism of the amino acid isoleucine and ketone-body metabolism. Signs and symptoms appear early in life and include vomiting, dehydration, breathing difficulties, seizures, lethargy, and coma.
Synonym	2-alpha-methyl-3-hydroxybutyricacidemia 2-methyl-3-hydroxybutyric acidemia 2-methyl-3-hydroxybutyricacidemia 3-@ketothiolase deficiency 3-alpha-ketothiolase deficiency 3-alpha-ktd deficiency 3-alpha-oxothiolase deficiency 3-ketothiolase deficiency 3-ktd deficiency 3-methylhydroxybutyric acidaemia 3-methylhydroxybutyric acidemia 3-oxothiolase deficiency acetoacetyl-coa thiolase deficiency alpha-methylacetoaceticaciduria b-ketothiolase deficiency beta-ketothiolase deficiency bkt deficiency of acetoacetyl-coa thiolase deficiency of acetyl-coa acetyltransferase deficiency of acetyl-coa acetyltransferase (disorder) deficiency of acetyl-coenzyme a acetyltransferase deficiency of acetyl-coenzyme a acetyltransferase (disorder) mitochondrial 2-methylacetoacetyl-coa thiolase deficiency - potassium stimulated mitochondrial 2-methylacetoacetyl-coa thiolase deficiency - potassium stimulated (disorder) mitochondrial acetoacetyl-coa thiolase deficiency t2 deficiency
Orphanet	ORPHANET:134
OMIM	OMIM:203750
DOID	DOID:14723
UMLS	C1536500
SNOMED-CT	SNOMEDCT_US_2016_09_01:124258007;SNOMEDCT_US_2016_09_01:237953006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0003467 \| anxiety \| 1 C0006112 \| metabolic encephalopathy \| 1 C0878544 \| cardiomyopathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 38 \| ACAT1 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:10) 30 \| ACAA1 \| 5.205 \| DISEASES 36 \| ACADSB \| 4.066 \| DISEASES 39 \| ACAT2 \| 6.888 \| DISEASES 383 \| ARG1 \| 2.209 \| DISEASES 347527 \| ARSH \| 1.418 \| DISEASES 2108 \| ETFA \| 3.103 \| DISEASES 4522 \| MTHFD1 \| 2.93 \| DISEASES 5091 \| PC \| 2.62 \| DISEASES 5828 \| PEX2 \| 1.939 \| DISEASES 10165 \| SLC25A13 \| 3.565 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1134
Disease	alpha-methylacetoacetic aciduria
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:4) HP:0005974 \| Episodic ketoacidosis HP:0002013 \| Emesis HP:0001249 \| Mental retardation HP:0001944 \| Dehydration
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0003201 \| Rhabdomyolysis \| 1 HP:0000739 \| Anxiety \| 1 HP:0001298 \| Encephalopathy \| 1 HP:0001638 \| Cardiomyopathy \| 1

Disease ID	1134
Disease	alpha-methylacetoacetic aciduria
Manually Symptom	(Waiting for update.)
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:20)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs120074140	NA	38	ACAT1	umls:C1536500	CLINVAR	NA	0.483528744	NA	ACAT1	11	108146334	G	A
rs120074141	NA	38	ACAT1	umls:C1536500	CLINVAR	NA	0.483528744	NA	ACAT1	11	108139009	G	A
rs120074142	NA	38	ACAT1	umls:C1536500	CLINVAR	NA	0.483528744	NA	ACAT1	11	108121608	T	A
rs120074143	NA	38	ACAT1	umls:C1536500	CLINVAR	NA	0.483528744	NA	ACAT1	11	108146332	G	T
rs120074144	NA	38	ACAT1	umls:C1536500	CLINVAR	NA	0.483528744	NA	ACAT1	11	108141688	C	T
rs120074145	NA	38	ACAT1	umls:C1536500	CLINVAR	NA	0.483528744	NA	ACAT1	11	108134260	A	G
rs120074146	NA	38	ACAT1	umls:C1536500	CLINVAR	NA	0.483528744	NA	ACAT1	11	108142545	T	C
rs120074147	NA	38	ACAT1	umls:C1536500	CLINVAR	NA	0.483528744	NA	ACAT1	11	108144039	G	C
rs120074148	NA	38	ACAT1	umls:C1536500	CLINVAR	NA	0.483528744	NA	ACAT1	11	108135240	C	G
rs148639841	NA	38	ACAT1	umls:C1536500	CLINVAR	NA	0.483528744	NA	ACAT1	11	108138934	A	G
rs199524907	NA	38	ACAT1	umls:C1536500	CLINVAR	NA	0.483528744	NA	ACAT1	11	108138935	A	G
rs387906282	NA	38	ACAT1	umls:C1536500	CLINVAR	NA	0.483528744	NA	ACAT1	11	108146229	GAA	-
rs387906283	NA	38	ACAT1	umls:C1536500	CLINVAR	NA	0.483528744	NA	ACAT1	11	108146279	-	A
rs398123096	NA	38	ACAT1	umls:C1536500	CLINVAR	NA	0.483528744	NA	ACAT1	11	108140217	T	C
rs398123097	NA	38	ACAT1	umls:C1536500	CLINVAR	NA	0.483528744	NA	ACAT1	11	108142515	A	-
rs727503795	NA	38	ACAT1	umls:C1536500	CLINVAR	NA	0.483528744	NA	ACAT1	11	108138906	GG	-
rs727503796	NA	38	ACAT1	umls:C1536500	CLINVAR	NA	0.483528744	NA	ACAT1	11	108141701	G	T
rs762991875	NA	38	ACAT1	umls:C1536500	CLINVAR	NA	0.483528744	NA	ACAT1	11	108138917	G	C
rs794727475	NA	38	ACAT1	umls:C1536500	CLINVAR	NA	0.483528744	NA	ACAT1	11	108133902	G	T
rs797044633	NA	38	ACAT1	umls:C1536500	CLINVAR	NA	0.483528744	NA	ACAT1	11	108146198	TAAG	AAA

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:4)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0005974	Episodic ketoacidosis	MP:0013404	decreased circulating lactate level	reduced amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase
HP:0001944	Dehydration	MP:0014206	decreased intestinal epithelial sodium ion transmembrane transport
HP:0002013	Vomiting	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001249	Intellectual disability	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division

Disease ID	1134
Disease	alpha-methylacetoacetic aciduria
Case	(Waiting for update.)