Hyperlysinemia due to defect in lysine transport into mitochondria

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 238710
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Hyperlysinemia
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001249) Intellectual disability 3099081 IBIS 1089 / 7739
2
 (HPO:0001263) Global developmental delay 3099081 IBIS 853 / 7739
3
 (HPO:0001250) Seizures 3099081 IBIS 1245 / 7739
4
 (HPO:0001288) Gait disturbance 3099081 IBIS 318 / 7739
5
 (HPO:0001270) Motor delay 3099081 IBIS 322 / 7739
6
 (HPO:0008265) Mitochondrial lysine transport defect 3099081 IBIS 1 / 7739
7
 (HPO:0002161) Hyperlysinemia 3099081 IBIS 7 / 7739
8
 (OMIM) Normal lysine-alpha-ketoglutarate reductase 3099081 IBIS 1 / 7739
9
 (OMIM) Normal saccharopine dehydrogenase 3099081 IBIS 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: