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 ⁵⁸ ¹³ ⁴¹

Acetyl-Coa: Carboxylase Deficiency ³⁰ ⁷⁴

Acaca Deficiency ⁵⁸ ⁷⁶

Acc1 Deficiency ⁵⁸ ⁷⁶

Acacad ⁵⁸ ⁷⁶

Acetyl-Coa Carboxylase 1 Deficiency ⁷⁶

Acac Deficiency ⁷⁶

Acc Deficiency ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

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

HPO:

³³

acetyl-coa carboxylase deficiency:
Inheritance autosomal recessive inheritance

External Ids:

OMIM ⁵⁸ 613933

MeSH ⁴⁵ D008052

MedGen ⁴³ C0268603

SNOMED-CT via HPO ⁷⁰ 129565002 258211005 276617005 more

UMLS ⁷⁴ C0268603

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Summaries for Acetyl-Coa Carboxylase Deficiency

UniProtKB/Swiss-Prot : ⁷⁶ 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

Description 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:

³³

#	Description	HPO Source Accession
1	myopathy ³³	HP:0003198
2	growth delay ³³	HP:0001510
3	generalized hypotonia ³³	HP:0001290

Symptoms via clinical synopsis from OMIM:

⁵⁸

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 ³⁰	ACACA

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Anatomical Context for Acetyl-Coa Carboxylase Deficiency

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

⁴²

Brain

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Publications for Acetyl-Coa Carboxylase Deficiency

Articles related to Acetyl-Coa Carboxylase Deficiency:

#	Title	Authors	Year
1	Acetyl-CoA carboxylase deficiency: an inborn error of de novo fatty acid synthesis. ( 6114432 )	Blom W...Scholte HR	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	167.24	Genetic Tests ³⁰ Genetic association ⁵⁸ 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 FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

ACACAD MCID: ACT086 MIFTS: 15	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