BAIBA
MCID: BTM003
MIFTS: 17

Beta-Aminoisobutyric Aciduria (BAIBA)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases

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:



External Ids:

OMIM 58 210100
MedGen 43 C1859518
SNOMED-CT via HPO 70 258211005 35912001
UMLS 74 C1859518

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.

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 Top Affiliating Genes
1 polycythemia vera 10.1
2 leukemia 10.1
3 polycythemia 10.1

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

Drugs & Therapeutics for Beta-Aminoisobutyric Aciduria

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

Genetic Tests for Beta-Aminoisobutyric Aciduria

Genetic tests related to Beta-Aminoisobutyric Aciduria:

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

Anatomical Context for Beta-Aminoisobutyric Aciduria

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 )
2011
2
Beta-aminoisobutyrate-alpha-ketoglutarate transaminase in relation to beta-aminoisobutyric aciduria. ( 5641913 )
1968
3
An investigation into the biochemical genetics of beta-aminoisobutyric aciduria. ( 13826695 )
1959

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

Expression for Beta-Aminoisobutyric Aciduria

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

Pathways for Beta-Aminoisobutyric Aciduria

GO Terms for Beta-Aminoisobutyric Aciduria

Sources for Beta-Aminoisobutyric Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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