LYSINE MALABSORPTION SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 247950
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0008272) Renal tubular lysine transport defect 1 / 7739
2
 (HPO:0003297) Hyperlysinuria 10 / 7739
3
 (HPO:0001249) Intellectual disability 1089 / 7739
4
 (HPO:0001510) Growth delay 295 / 7739
5
 (OMIM) Impaired lysine intestinal absorption 1 / 7739
6
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
 (OMIM) Intestinal lysine transport defect 1 / 7739
8
 (OMIM) Low serum lysine 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: