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juvenile nephropathic cystinosis

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.
Uniprot Description A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Late-onset juvenile or adolescent nephropathic cystinosis is an intermediated form, manifesting 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 and stature is normal. Photophobia, late development of pigmentary retinopathy, and chronic headaches are features.
Mondo Term and Equivalent IDs
MONDO:0009066:  juvenile nephropathic cystinosis
EFO:0009049: 
MESH:C562683: 
Orphanet:411634: 
SCTID:22830006: 
UMLS:C0268626: