BAIBA
MCID: BTM003
MIFTS: 15

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 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:



External Ids:

OMIM 57 210100
MedGen 42 C1859518
SNOMED-CT via HPO 69 258211005 35912001
UMLS 73 C1859518

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.

Related Diseases for Beta-Aminoisobutyric Aciduria

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

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 29 AGXT2

Anatomical Context for Beta-Aminoisobutyric Aciduria

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 )
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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