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 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

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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

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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:

³²

#	Description	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

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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:

⁴¹

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. ³⁸ ⁸	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	PubmedIds
1	ACACA	Acetyl-CoA Carboxylase Alpha	Protein Coding	167.23	Genetic Tests ²⁹ Genetic association ⁵⁷ GeneCards inferred via : Publications (show sections)

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Variations for Acetyl-Coa Carboxylase Deficiency

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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 GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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 NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

ACACAD MCID: ACT086 MIFTS: 14	Acetyl-Coa Carboxylase Deficiency (ACACAD)
Genes 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

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