Cystinosis

rare

Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.

Identifiers: MONDO:0016239 Orphanet:213
Part of: Inborn disorder of lysosomal amino acid transport
Also known as: cystine diathesis · cystine disease · cystine storage disease · Cystinoses · Protein defect of cystin transport

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Nephropathic cystinosis	MONDO:0100151	2	CTNS
Ocular cystinosis	MONDO:0009064		CTNS

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