HYPERLYSINURIA WITH HYPERAMMONEMIA

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERLYSINEMIA, PERIODIC
Number of Symptoms 13
OrphanetNr:
OMIM Id: 238750
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: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0003297) Hyperlysinuria 10 / 7739
2
 (HPO:0003168) Dibasicaminoaciduria 5 / 7739
3
 (HPO:0001259) Coma 65 / 7739
4
 (HPO:0001249) Intellectual disability 1089 / 7739
5
 (HPO:0001254) Lethargy 104 / 7739
6
 (HPO:0002024) Malabsorption 142 / 7739
7
 (HPO:0001510) Growth delay 295 / 7739
8
 (HPO:0002161) Hyperlysinemia 7 / 7739
9
 (HPO:0001987) Hyperammonemia 50 / 7739
10
 (OMIM) Lysine malabsorption 1 / 7739
11
 (OMIM) Low fasting blood arginine and lysine 1 / 7739
12
 (OMIM) Protein intolerance 2 / 7739
13
 (OMIM) L-lysine dehydrogenase partial deficiency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: