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MCID: ACT239
MIFTS: 18
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Acetyl-Coa Acetyltransferase-2 Deficiency
Categories:
Rare diseases
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MalaCards integrated aliases for Acetyl-Coa Acetyltransferase-2 Deficiency:
Characteristics:OMIM:57
Inheritance:
isolated cases
Miscellaneous:
onset between age 4 to 7 months two unrelated patients have been reported (as of june 2011) HPO:32Classifications: |
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MalaCards based summary
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Acetyl-Coa Acetyltransferase-2 Deficiency, also known as acat2 deficiency, is related to hepatitis and renal cell carcinoma, nonpapillary. An important gene associated with Acetyl-Coa Acetyltransferase-2 Deficiency is ACAT2 (Acetyl-CoA Acetyltransferase 2). Related phenotypes are chorea and global developmental delay
Description from OMIM:
614055
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Diseases related to Acetyl-Coa Acetyltransferase-2 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:614055Human phenotypes related to Acetyl-Coa Acetyltransferase-2 Deficiency:32
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Articles related to Acetyl-Coa Acetyltransferase-2 Deficiency:
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Search
GEO
for disease gene expression data for Acetyl-Coa Acetyltransferase-2 Deficiency.
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