ACACAD
MCID: ACT086
MIFTS: 14

Acetyl-Coa Carboxylase Deficiency (ACACAD)

Aliases & Classifications for Acetyl-Coa Carboxylase Deficiency

MalaCards integrated aliases for Acetyl-Coa Carboxylase Deficiency:

Name: Acetyl-Coa Carboxylase Deficiency 57 13 40
Acetyl-Coa: Carboxylase Deficiency 29 72
Acaca Deficiency 57 74
Acc1 Deficiency 57 74
Acacad 57 74
Acetyl-Coa Carboxylase 1 Deficiency 74
Acac Deficiency 74
Acc Deficiency 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in the perinatal period
one patient has been reported (as of april 2011)


HPO:

32
acetyl-coa carboxylase deficiency:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 613933
MeSH 44 D008052
MedGen 42 C0268603
UMLS 72 C0268603

Summaries for Acetyl-Coa Carboxylase Deficiency

UniProtKB/Swiss-Prot : 74 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 generalized hypotonia

More information from OMIM: 613933

Related Diseases for Acetyl-Coa Carboxylase Deficiency

Symptoms & Phenotypes for Acetyl-Coa Carboxylase Deficiency

Human phenotypes related to Acetyl-Coa Carboxylase Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 myopathy 32 HP:0003198
2 generalized hypotonia 32 HP:0001290
3 growth delay 32 HP:0001510

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
myopathy
hypotonia

Neurologic Central Nervous System:
severe brain damage

Growth Other:
poor growth

Laboratory Abnormalities:
urinary excretion of 2-ethyl-3-keto-hexanoic acid
urinary excretion of 2-ethyl-3-hydroxy-hexanoic acid
urinary excretion of 2-ethyl-hexanedioic acid
decreased acetyl-coa carboxylase activity

Clinical features from OMIM:

613933

Drugs & Therapeutics for Acetyl-Coa Carboxylase Deficiency

Search Clinical Trials , NIH Clinical Center for Acetyl-Coa Carboxylase Deficiency

Genetic Tests for Acetyl-Coa Carboxylase Deficiency

Genetic tests related to Acetyl-Coa Carboxylase Deficiency:

# Genetic test Affiliating Genes
1 Acetyl-Coa: Carboxylase Deficiency 29 ACACA

Anatomical Context for Acetyl-Coa Carboxylase Deficiency

MalaCards organs/tissues related to Acetyl-Coa Carboxylase Deficiency:

41
Brain

Publications for Acetyl-Coa Carboxylase Deficiency

Articles related to Acetyl-Coa Carboxylase Deficiency:

# Title Authors PMID Year
1
Acetyl-CoA carboxylase deficiency: an inborn error of de novo fatty acid synthesis. 38 8
6114432 1981

Variations for Acetyl-Coa Carboxylase Deficiency

Expression for Acetyl-Coa Carboxylase Deficiency

Search GEO for disease gene expression data for Acetyl-Coa Carboxylase Deficiency.

Pathways for Acetyl-Coa Carboxylase Deficiency

GO Terms for Acetyl-Coa Carboxylase Deficiency

Sources for Acetyl-Coa Carboxylase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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