Acetyl-Coa Carboxylase Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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

SNOMED-CT via HPO ⁶⁸ 129565002 258211005 276617005 more

UMLS ⁷⁰ C0268603

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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

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Related Diseases for Acetyl-Coa Carboxylase Deficiency

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Symptoms & Phenotypes for Acetyl-Coa Carboxylase Deficiency

Human phenotypes related to Acetyl-Coa Carboxylase Deficiency:

³¹

#	Description	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)

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Drugs & Therapeutics for Acetyl-Coa Carboxylase Deficiency

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

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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

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Anatomical Context for Acetyl-Coa Carboxylase Deficiency

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

⁴⁰

Brain

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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	Blom W...Scholte HR	6114432	1981

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Genes for Acetyl-Coa Carboxylase Deficiency

Genes related to Acetyl-Coa Carboxylase Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ACACA	Acetyl-CoA Carboxylase Alpha	Protein Coding	567.19	Pathogenic ⁶ Genetic Tests ²⁹ Genetic association ⁵⁷ GeneCards inferred via : Publications Variants (show sections)

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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

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Expression for Acetyl-Coa Carboxylase Deficiency

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

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Pathways for Acetyl-Coa Carboxylase Deficiency

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GO Terms for Acetyl-Coa Carboxylase Deficiency

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Sources for Acetyl-Coa Carboxylase Deficiency

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

ACACAD MCID: ACT086 MIFTS: 16	Acetyl-Coa Carboxylase Deficiency (ACACAD)
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Acetyl-Coa Carboxylase Deficiency (ACACAD)

Aliases & Classifications for Acetyl-Coa Carboxylase Deficiency

MalaCards integrated aliases for Acetyl-Coa Carboxylase Deficiency:

Characteristics:

OMIM®:

HPO:

External Ids:

Summaries for Acetyl-Coa Carboxylase Deficiency

Related Diseases for Acetyl-Coa Carboxylase Deficiency

Symptoms & Phenotypes for Acetyl-Coa Carboxylase Deficiency

Human phenotypes related to Acetyl-Coa Carboxylase Deficiency:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Acetyl-Coa Carboxylase Deficiency

Genetic Tests for Acetyl-Coa Carboxylase Deficiency

Genetic tests related to Acetyl-Coa Carboxylase Deficiency:

Anatomical Context for Acetyl-Coa Carboxylase Deficiency

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

Publications for Acetyl-Coa Carboxylase Deficiency

Articles related to Acetyl-Coa Carboxylase Deficiency:

Genes for Acetyl-Coa Carboxylase Deficiency

Genes related to Acetyl-Coa Carboxylase Deficiency (1 elite genes):

Variations for Acetyl-Coa Carboxylase Deficiency

ClinVar genetic disease variations for Acetyl-Coa Carboxylase Deficiency:

Expression for Acetyl-Coa Carboxylase Deficiency

Pathways for Acetyl-Coa Carboxylase Deficiency

GO Terms for Acetyl-Coa Carboxylase Deficiency

Sources for Acetyl-Coa Carboxylase Deficiency