CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

General Information (adopted from Orphanet):

Synonyms, Signs: CYSTINOSIS, INTERMEDIATE
Number of Symptoms 0
OrphanetNr:
OMIM Id: 219900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Adolescent nephropathic cystinosis manifests itself first at age 10 to 12 years with proteinuria due to glomerular damage rather than with the manifestations of tubular damage that occur first in infantile cystinosis. There is no excess amino aciduria ...
Molecular genetics OMIM Attard et al. (1999) identified a mutation in the CTNS gene (606272.0008) in a patient with late-onset juvenile nephropathic cystinosis.

Thoene et al. (1999) described 2 sibs in Taiwan with intermediate cystinosis who had linear growth ...