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MCID: ACT086
MIFTS: 16
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Acetyl-Coa Carboxylase Deficiency |
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MalaCards integrated aliases for Acetyl-Coa Carboxylase Deficiency:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in the perinatal period one patient has been reported (as of april 2011) HPO:32 |
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UniProtKB/Swiss-Prot
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75
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 generalized hypotonia and growth delay
Description from OMIM:
613933
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:613933Human phenotypes related to Acetyl-Coa Carboxylase Deficiency:32
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MalaCards organs/tissues related to Acetyl-Coa Carboxylase Deficiency:41
Brain
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Articles related to Acetyl-Coa Carboxylase Deficiency:
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Genes related to Acetyl-Coa Carboxylase Deficiency (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Acetyl-Coa Carboxylase Deficiency.
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