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 has material basis in mutations in the CTNS gene, located on chromosome 17.

Synonyms:  cystinosis,  DOID:1064,  cystine storage disease,  cystine storage disorder,  cystine storage syndrome

Linkouts:  OMIM #1 #2 #3