Hyper-beta-alaninemia

General Information (adopted from Orphanet):

Synonyms, Signs: hyperalaninemia
Number of Symptoms 11
OrphanetNr: 309147
OMIM Id: 237400
ICD-10: E79.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Amino acid or protein metabolism disease with epilepsy
 -Rare neurologic disease
Disorder of pyrimidine metabolism
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003166) Increased urinary taurine 5 / 7739
2
 (HPO:0001250) Seizures 1245 / 7739
3
 (HPO:0001262) Somnolence 20 / 7739
4
 (HPO:0001508) Failure to thrive 454 / 7739
5
 (HPO:0012556) Hyperbetaalaninemia 1 / 7739
6
 (HPO:0002643) Neonatal respiratory distress 22 / 7739
7
 (OMIM) Possible defect in beta-alanine-alpha-ketoglutarate transaminase 1 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
 (OMIM) Hyper-beta-alaninemia 1 / 7739
10
 (OMIM) Taurinuria 1 / 7739
11
 (OMIM) Beta-amino-isobutyric aciduria 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: