ACACAD
MCID: ACT086
MIFTS: 15
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Acetyl-Coa Carboxylase Deficiency (ACACAD) |
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MalaCards integrated aliases for Acetyl-Coa Carboxylase Deficiency:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in the perinatal period one patient has been reported (as of april 2011) HPO:31 |
UniProtKB/Swiss-Prot :
73
Acetyl-CoA carboxylase 1 deficiency: An inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth.
MalaCards based summary : Acetyl-Coa Carboxylase Deficiency, is also known as acetyl-coa: carboxylase deficiency. An important gene associated with Acetyl-Coa Carboxylase Deficiency is ACACA (Acetyl-CoA Carboxylase Alpha). Affiliated tissues include brain, and related phenotypes are myopathy and growth delay
More information from OMIM:
613933
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Human phenotypes related to Acetyl-Coa Carboxylase Deficiency:31
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:613933 |
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MalaCards organs/tissues related to Acetyl-Coa Carboxylase Deficiency:40
Brain
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Articles related to Acetyl-Coa Carboxylase Deficiency:
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ClinVar genetic disease variations for Acetyl-Coa Carboxylase Deficiency:6
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Search
GEO
for disease gene expression data for Acetyl-Coa Carboxylase Deficiency.
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