CYSTINOSIS, NEPHROPATHIC

General Information (adopted from Orphanet):

Synonyms, Signs: CYSTINOSIN, DEFECT OF CYSTINOSIS, INFANTILE NEPHROPATHIC, INCLUDED
CYSTINOSIS, ATYPICAL NEPHROPATHIC, INCLUDED
LYSOSOMAL CYSTINE TRANSPORT PROTEIN, DEFECT OF
CTNS
Number of Symptoms 0
OrphanetNr:
OMIM Id: 219800
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 0.5 of 100 000
Inheritance:
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Comment:

Nephropathic or classic infantile cystinosis (OMIM:219800), the most severe form, is the major identifiable cause of renal Fanconi syndrome in children. The intermediate (juvenile) form of cystinosis (OMIM:219900) has all the manifestations of the nephropathic form, but its onset is generally around the time of adolescence (PMID:22903658).

Symptom Information: Sort by abundance 

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal ...
Clinical Description OMIM An abnormality in heterozygotes was demonstrated by Schneider et al. (1967) who found the concentration of free cystine to be about 6 times normal in the leukocytes of parents of patients. The features resulting from accumulation of cystine ...
Molecular genetics OMIM Town et al. (1998) found that the marker locus D17S829 was homozygously deleted in 23 of 70 patients with nephropathic cystinosis, and they mapped a novel gene, CTNS (606272), to the deletion interval.

Shotelersuk et al. ...

Population genetics OMIM The incidence of cystinosis is estimated to be between 1 in 100,000 and 1 in 200,000. In France, the estimated incidence is much higher in Brittany (1 in 26,000) than in the rest of the country (1 in ...