Disease-gene associations mined from literature

Human genes for cystinosis

Cystinosis [DOID:1064]

Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine. It is a genetic disorder that typically follows an autosomal recessive inheritance pattern. Cystinosis is the most common cause of Fanconi syndrome in the pediatric age group. Fanconi syndrome occurs when the function of cells in renal tubules are impaired, leading to abnormal amounts of carbohydrates and amino acids in the urine, excessive urination, and low blood levels of potassium and phosphates.

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

Linkouts:  OMIM #1 #2 #3