VALINEMIA

General Information (adopted from Orphanet):

Synonyms, Signs: VALINE TRANSAMINASE DEFICIENCY
HYPERVALINEMIA
Number of Symptoms 11
OrphanetNr:
OMIM Id: 277100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0002329) Drowsiness 19 / 7739
2
 (HPO:0002487) Hyperkinesis 7 / 7739
3
 (HPO:0002013) Vomiting 191 / 7739
4
 (HPO:0001508) Failure to thrive 454 / 7739
5
 (HPO:0010910) Hypervalinemia 1 / 7739
6
 (HPO:0001324) Muscle weakness 859 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
 (OMIM) Valinuria 1 / 7739
9
 (OMIM) Valinemia 1 / 7739
10
 (OMIM) No elevation of leucine and isoleucine 1 / 7739
11
 (OMIM) Valine transaminase deficiency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: