Hyperleucine-isoleucinemia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr:
OMIM Id: 238340
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
5513158 [IBIS]
Age of onset: Neonatal
5513158 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of branched-chain amino acid metabolism
 -Rare genetic disease

Comment:

BCAT2 gene mutations can cause hypervalinemia and hyperleucine-isoleucinemia (PMID:25653144).

Symptom Information: Sort by abundance 

1
 (HPO:0000546) Retinal degeneration 5513158 IBIS 61 / 7739
2
 (HPO:0008625) Severe sensorineural hearing impairment 5513158 IBIS 150 / 7739
3
 (HPO:0000407) Sensorineural hearing impairment 5513158 IBIS 524 / 7739
4
 (HPO:0008527) Congenital sensorineural hearing impairment 5513158 IBIS 165 / 7739
5
 (HPO:0001249) Intellectual disability 5513158 IBIS 1089 / 7739
6
 (HPO:0001250) Seizures 5513158 IBIS 1245 / 7739
7
 (HPO:0001508) Failure to thrive 5513158 IBIS 454 / 7739
8
 (HPO:0001939) Abnormality of metabolism/homeostasis 5513158 IBIS 328 / 7739
9
 (OMIM) Normal blood valine 5513158 IBIS 1 / 7739
10
 (OMIM) Elevated blood leucine, isoleucine, and proline 5513158 IBIS 1 / 7739
11
 (OMIM) Normal valine aminotransferase 5513158 IBIS 1 / 7739
12
 (OMIM) Decreased leucine and isoleucine aminotransferase 5513158 IBIS 1 / 7739

Associated genes:

BCAT2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: