Gamuts

Cystinosis

Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine. It is a genetic disorder that follows an autosomal recessive inheritance pattern. [Source: Wikipedia ]

OrphaNet reference
Cystinosis 
May Cause
Congenital abdominal calcifications
Congenital hepatomegaly
Congenital hydrocephalus
Congenital splenomegaly
Delayed bone age
Diabetes mellitus
Hair color abnormality
Hydrocephalus
Hyperparathyroidism
Hypokalemia
Hypophosphatemia
Intracranial calcification
Multiple fractures
Nephropathy
Pathologic fracture
Retarded skeletal maturation
Rickets
Thyroid dysfunction
Urinary tract calculus
OrphaNet reference
Cystinosis 
May Cause
Congenital abdominal calcifications
Congenital hepatomegaly
Congenital hydrocephalus
Congenital splenomegaly
Delayed bone age
Diabetes mellitus
Hair color abnormality
Hydrocephalus
Hyperparathyroidism
Hypokalemia
Hypophosphatemia
Intracranial calcification
Multiple fractures
Nephropathy
Pathologic fracture
Retarded skeletal maturation
Rickets
Thyroid dysfunction
Urinary tract calculus


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