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 ⁷¹

Hyper-Beta-Aminoisobutyric Aciduria ⁵⁷

Baib Urinary Excretion ⁵⁷

Baiba ⁵⁷

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

HPO:

³¹

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 ⁴¹ C1859518

SNOMED-CT via HPO ⁶⁸ 258211005

UMLS ⁷¹ 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) (Updated 05-Mar-2021)

MalaCards based summary : Beta-Aminoisobutyric Aciduria, also known as beta-aminoisobutyric acid, urinary excretion of, is related to polycythemia vera and end stage renal disease. An important gene associated with Beta-Aminoisobutyric Aciduria is AGXT2 (Alanine--Glyoxylate Aminotransferase 2). Affiliated tissues include liver, and related phenotype is beta-aminoisobutyric aciduria.

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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	9.9
2	end stage renal disease	9.9
3	polycythemia	9.9

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Symptoms & Phenotypes for Beta-Aminoisobutyric Aciduria

Human phenotypes related to Beta-Aminoisobutyric Aciduria:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	beta-aminoisobutyric aciduria ³¹		HP:0032480

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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

Clinical features from OMIM®:

210100 (Updated 05-Mar-2021)

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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

MalaCards organs/tissues related to Beta-Aminoisobutyric Aciduria:

⁴⁰

Liver

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Publications for Beta-Aminoisobutyric Aciduria

Articles related to Beta-Aminoisobutyric Aciduria:

(show all 15)

#	Title	Authors	PMID	Year
1	A genome-wide association study of metabolic traits in human urine. ⁶ ⁵⁷	Suhre K...Nauck M	21572414	2011
2	beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. ⁵⁷	van Kuilenburg AB...van Gennip AH	15385443	2004
3	Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level. ⁵⁷	Van Kuilenburg AB...Van Gennip AH	11804209	2001
4	A novel domain of the inhibitory glycine receptor determining antagonist efficacies: further evidence for partial agonism resulting from self-inhibition. ⁵⁷	Schmieden V...Betz H	10462533	1999
5	Complex segregation analysis of the locus for beta-aminoisobutyric acid excretion (BAIB). ⁵⁷	Simpson SP...Morton NE	10819024	1981
6	Deficiency of D-beta-aminoisobutyrate: pyruvate aminotransferase in the liver of genetic high excretors of D-beta-aminoisobutyrate. ⁵⁷	Taniguchi K...Karimoto Y	5082513	1972
7	Genetic study of beta-aminoisobutyric acid excretion by Japanese. ⁵⁷	Yanai J...Sano I	5814159	1969
8	D-beta-aminoisobutyrate:pyruvate aminotransferase in mammalian liver and excretion of beta-aminoisobutyrate by man. ⁵⁷	Kakimoto Y...Sano I	5773299	1969
9	An investigation into the genetics and racial variation of BAIB excretion. ⁵⁷	GARTLER SM...KRAUS BS	13469796	1957
10	A genetic study of beta-aminoisobutyric acid excretion. ⁵⁷	DE GROUCHY J...SUTTON HE	13410902	1957
11	beta-Aminoisobutyric acid (alpha-methyl-beta-alanine); a new amino-acid obtained from human urine. ⁵⁷	CRUMPLER HR...WESTALL RG	14806475	1951
12	beta-Aminoisobutyric acid as a marker of thymine catabolism in malignancy. ⁶¹	van Gennip AH...Voute PA	3652458	1987
13	[Beta-aminoisobutyric aciduria]. ⁶¹	Kakimoto Y	4797404	1973
14	Beta-aminoisobutyrate-alpha-ketoglutarate transaminase in relation to beta-aminoisobutyric aciduria. ⁶¹	Kakimoto Y...Sano I	5641913	1968
15	An investigation into the biochemical genetics of beta-aminoisobutyric aciduria. ⁶¹	GARTLER SM	13826695	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	PubMed IDs
1	AGXT2	Alanine--Glyoxylate Aminotransferase 2	Protein Coding	666.29	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	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	AGXT2	NM_031900.4(AGXT2):c.418G>A (p.Val140Ile)	SNV	Affects	427577	rs37369	5:35037115-35037115	5:35037010-35037010

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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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Sources 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

MalaCards organs/tissues related to 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