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 ⁵⁷ ²⁹ ⁶

Beta-Aminoisobutyric Acid, Urinary Excretion of ⁵⁷ ⁷³

Hyper-Beta-Aminoisobutyric Aciduria ⁵⁷

Baib Urinary Excretion ⁵⁷

Baiba ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

HPO:

³²

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 ⁵⁷ 210100

MedGen ⁴² C1859518

SNOMED-CT via HPO ⁶⁹ 258211005 35912001

UMLS ⁷³ C1859518

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Summaries for Beta-Aminoisobutyric Aciduria

OMIM : ⁵⁷ 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, is also known as beta-aminoisobutyric acid, urinary excretion of. 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

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Symptoms & Phenotypes for Beta-Aminoisobutyric Aciduria

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Clinical features from OMIM:

210100

Human phenotypes related to Beta-Aminoisobutyric Aciduria:

³²

#	Description	HPO Frequency	HPO Source Accession
1	aminoaciduria ³²		HP:0003355

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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 ²⁹	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	Beta-aminoisobutyrate-alpha-ketoglutarate transaminase in relation to beta-aminoisobutyric aciduria. ( 5641913 )		1968
2	An investigation into the biochemical genetics of beta-aminoisobutyric aciduria. ( 13826695 )	GARTLER S.M.	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	676.88	Molecular basis known ⁵⁷ Genetic Tests ²⁹ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁷ 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

Symptoms & Phenotypes for Beta-Aminoisobutyric Aciduria

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Beta-Aminoisobutyric Aciduria:

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