Beta-Aminoisobutyric Aciduria disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Beta-Aminoisobutyric Aciduria

MalaCards integrated aliases for Beta-Aminoisobutyric Aciduria:

Name: Beta-Aminoisobutyric Aciduria ⁵⁸ ³⁰ ⁶

Beta-Aminoisobutyric Acid, Urinary Excretion of ⁵⁸ ⁷⁴

Hyper-Beta-Aminoisobutyric Aciduria ⁵⁸

Baib Urinary Excretion ⁵⁸

Baiba ⁵⁸

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

HPO:

³³

beta-aminoisobutyric aciduria:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 210100

MedGen ⁴³ C1859518

SNOMED-CT via HPO ⁷⁰ 258211005 35912001

UMLS ⁷⁴ C1859518

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Summaries for Beta-Aminoisobutyric Aciduria

OMIM : ⁵⁸ Beta-aminoisobutyric acid (BAIB) is a product of pyrimidine catabolism. Excretion of BAIB in urine is a benign 'metabolic polymorphism' present in many human populations (Scriver and Perry, 1989). (210100)

MalaCards based summary : Beta-Aminoisobutyric Aciduria, also known as beta-aminoisobutyric acid, urinary excretion of, is related to polycythemia vera and leukemia. An important gene associated with Beta-Aminoisobutyric Aciduria is AGXT2 (Alanine--Glyoxylate Aminotransferase 2). Related phenotype is aminoaciduria.

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Related Diseases for Beta-Aminoisobutyric Aciduria

Diseases related to Beta-Aminoisobutyric Aciduria via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	polycythemia vera	10.1
2	leukemia	10.1
3	polycythemia	10.1

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Symptoms & Phenotypes for Beta-Aminoisobutyric Aciduria

Human phenotypes related to Beta-Aminoisobutyric Aciduria:

³³

#	Description	HPO Frequency	HPO Source Accession
1	aminoaciduria ³³		HP:0003355

Symptoms via clinical synopsis from OMIM:

⁵⁸

Lab:
urinary excretion of beta-aminoisobutyric acid
d-beta-aminoisobutyrate:pyruvate aminotransferase deficiency

Clinical features from OMIM:

210100

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Drugs & Therapeutics for Beta-Aminoisobutyric Aciduria

Search Clinical Trials , NIH Clinical Center for Beta-Aminoisobutyric Aciduria

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Genetic Tests for Beta-Aminoisobutyric Aciduria

Genetic tests related to Beta-Aminoisobutyric Aciduria:

#	Genetic test	Affiliating Genes
1	Beta-Aminoisobutyric Aciduria ³⁰	AGXT2

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Anatomical Context for Beta-Aminoisobutyric Aciduria

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Publications for Beta-Aminoisobutyric Aciduria

Articles related to Beta-Aminoisobutyric Aciduria:

#	Title	Authors	Year
1	A genome-wide association study of metabolic traits in human urine. ( 21572414 )	Suhre K...Nauck M	2011
2	Beta-aminoisobutyrate-alpha-ketoglutarate transaminase in relation to beta-aminoisobutyric aciduria. ( 5641913 )	Kakimoto Y...Sano I	1968
3	An investigation into the biochemical genetics of beta-aminoisobutyric aciduria. ( 13826695 )	GARTLER SM	1959

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Genes for Beta-Aminoisobutyric Aciduria

Genes related to Beta-Aminoisobutyric Aciduria (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	AGXT2	Alanine--Glyoxylate Aminotransferase 2	Protein Coding	676.89	Molecular basis known ⁵⁸ Genetic Tests ³⁰ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁸ GeneCards inferred via : Proteins Variants (show sections)

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Variations for Beta-Aminoisobutyric Aciduria

ClinVar genetic disease variations for Beta-Aminoisobutyric Aciduria:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	AGXT2	NM_031900.3(AGXT2): c.418G> A (p.Val140Ile)	single nucleotide variant	Affects	rs37369	GRCh38	Chromosome 5, 35037010: 35037010
2	AGXT2	NM_031900.3(AGXT2): c.418G> A (p.Val140Ile)	single nucleotide variant	Affects	rs37369	GRCh37	Chromosome 5, 35037115: 35037115

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Expression for Beta-Aminoisobutyric Aciduria

Search GEO for disease gene expression data for Beta-Aminoisobutyric Aciduria.

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Pathways for Beta-Aminoisobutyric Aciduria

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GO Terms for Beta-Aminoisobutyric Aciduria

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Beta-Aminoisobutyric Aciduria (BAIBA)

Aliases & Classifications for Beta-Aminoisobutyric Aciduria

MalaCards integrated aliases for Beta-Aminoisobutyric Aciduria:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Beta-Aminoisobutyric Aciduria

Related Diseases for Beta-Aminoisobutyric Aciduria

Diseases related to Beta-Aminoisobutyric Aciduria via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Beta-Aminoisobutyric Aciduria

Human phenotypes related to Beta-Aminoisobutyric Aciduria:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Beta-Aminoisobutyric Aciduria

Genetic Tests for Beta-Aminoisobutyric Aciduria

Genetic tests related to Beta-Aminoisobutyric Aciduria:

Anatomical Context for Beta-Aminoisobutyric Aciduria

Publications for Beta-Aminoisobutyric Aciduria

Articles related to Beta-Aminoisobutyric Aciduria:

Genes for Beta-Aminoisobutyric Aciduria

Genes related to Beta-Aminoisobutyric Aciduria (1 elite genes):

Variations for Beta-Aminoisobutyric Aciduria

ClinVar genetic disease variations for Beta-Aminoisobutyric Aciduria:

Expression for Beta-Aminoisobutyric Aciduria

Pathways for Beta-Aminoisobutyric Aciduria

GO Terms for Beta-Aminoisobutyric Aciduria

Sources for Beta-Aminoisobutyric Aciduria