BAIBA
MCID: BTM003
MIFTS: 20

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 56 29 6
Beta-Aminoisobutyric Acid, Urinary Excretion of 56 71
Hyper-Beta-Aminoisobutyric Aciduria 56
Baib Urinary Excretion 56
Baiba 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
beta-aminoisobutyric aciduria:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 210100
MedGen 41 C1859518
SNOMED-CT via HPO 68 258211005 35912001
UMLS 71 C1859518

Summaries for Beta-Aminoisobutyric Aciduria

OMIM : 56 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 end stage renal failure. An important gene associated with Beta-Aminoisobutyric Aciduria is AGXT2 (Alanine--Glyoxylate Aminotransferase 2). Affiliated tissues include liver, and 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 10.2
2 end stage renal failure 10.2
3 polycythemia 10.2

Symptoms & Phenotypes for Beta-Aminoisobutyric Aciduria

Human phenotypes related to Beta-Aminoisobutyric Aciduria:

31
# Description HPO Frequency HPO Source Accession
1 aminoaciduria 31 HP:0003355

Symptoms via clinical synopsis from OMIM:

56
Lab:
urinary excretion of beta-aminoisobutyric acid
d-beta-aminoisobutyrate:pyruvate aminotransferase deficiency

Clinical features from OMIM:

210100

Drugs & Therapeutics for Beta-Aminoisobutyric Aciduria

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Intradialytic Exercise Among Hemodialysis Patients in the United Arab Emirates on Cardio-Metabolic Markers, Dialysis Adequacy, Quality of Life and Cost Effectiveness Completed NCT03131804

Search 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

MalaCards organs/tissues related to Beta-Aminoisobutyric Aciduria:

40
Liver

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. 56 6
21572414 2011
2
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. 56
15385443 2004
3
Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level. 56
11804209 2001
4
A novel domain of the inhibitory glycine receptor determining antagonist efficacies: further evidence for partial agonism resulting from self-inhibition. 56
10462533 1999
5
Complex segregation analysis of the locus for beta-aminoisobutyric acid excretion (BAIB). 56
10819024 1981
6
Deficiency of D-beta-aminoisobutyrate: pyruvate aminotransferase in the liver of genetic high excretors of D-beta-aminoisobutyrate. 56
5082513 1972
7
Genetic study of beta-aminoisobutyric acid excretion by Japanese. 56
5814159 1969
8
D-beta-aminoisobutyrate:pyruvate aminotransferase in mammalian liver and excretion of beta-aminoisobutyrate by man. 56
5773299 1969
9
An investigation into the genetics and racial variation of BAIB excretion. 56
13469796 1957
10
A genetic study of beta-aminoisobutyric acid excretion. 56
13410902 1957
11
beta-Aminoisobutyric acid (alpha-methyl-beta-alanine); a new amino-acid obtained from human urine. 56
14806475 1951
12
beta-Aminoisobutyric acid as a marker of thymine catabolism in malignancy. 61
3652458 1987
13
[Beta-aminoisobutyric aciduria]. 61
4797404 1973
14
Beta-aminoisobutyrate-alpha-ketoglutarate transaminase in relation to beta-aminoisobutyric aciduria. 61
5641913 1968
15
An investigation into the biochemical genetics of beta-aminoisobutyric aciduria. 61
13826695 1959

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

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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