ACACAD
MCID: ACT086
MIFTS: 16

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 39
Acetyl-Coa: Carboxylase Deficiency 29 6 70
Acaca Deficiency 57 72
Acc1 Deficiency 57 72
Acacad 57 72
Acetyl-Coa Carboxylase 1 Deficiency 72
Acac Deficiency 72
Acc Deficiency 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
acetyl-coa carboxylase deficiency:
Inheritance autosomal recessive inheritance


External Ids:

OMIM® 57 613933
MeSH 44 D008052
MedGen 41 C0268603
UMLS 70 C0268603

Summaries for Acetyl-Coa Carboxylase Deficiency

UniProtKB/Swiss-Prot : 72 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

Related Diseases for Acetyl-Coa Carboxylase Deficiency

Symptoms & Phenotypes for Acetyl-Coa Carboxylase Deficiency

Human phenotypes related to Acetyl-Coa Carboxylase Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 myopathy 31 HP:0003198
2 growth delay 31 HP:0001510
3 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

40
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. 57 61
6114432 1981

Variations for Acetyl-Coa Carboxylase Deficiency

ClinVar genetic disease variations for Acetyl-Coa Carboxylase Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACACA NM_198834.3(ACACA):c.3474+2TA[14] Microsatellite Pathogenic 1030414 GRCh37: 17:35581887-35581888
GRCh38: 17:37224966-37224967
2 ACACA NM_198834.3(ACACA):c.455del (p.Asn152fs) Deletion Pathogenic 1030415 GRCh37: 17:35641755-35641755
GRCh38: 17:37284854-37284854
3 ACACA NM_198834.3(ACACA):c.6923C>T (p.Ala2308Val) SNV Uncertain significance 1030416 GRCh37: 17:35445978-35445978
GRCh38: 17:37089043-37089043
4 ACACA NM_198834.3(ACACA):c.4642G>A (p.Ala1548Thr) SNV Uncertain significance 811450 rs1598113980 GRCh37: 17:35545351-35545351
GRCh38: 17:37188411-37188411

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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....