DISEASES

Disease-gene associations mined from literature

Human genes for cystinosis

Cystinosis [DOID:1064]

A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and is caused by mutations in the CTNS gene, located on chromosome 17.

Synonyms:  cystinosis,  DOID:1064,  Cystine storage disease,  Cystinosis (disorder),  Cystinosis (disorder) [Ambiguous] ...

Linkouts:  OMIM #1 #2 #3