BabelNet

bn:01164484n

Noun Concept

Categories: Rare diseases, Amino acid metabolism disorders, Autosomal recessive disorders, Lysosomal storage diseases, Articles with short description

cystinosis Cistinosis Cystin transport, protein defect of Cystine diathesis Cystine disease

Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of cystine, the oxidized dimer of the amino acid cysteine. Wikipedia

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Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of cystine, the oxidized dimer of the amino acid cysteine. Wikipedia

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. Wikidata

A disorder caused by abnormal metabolism of cystine. Wiktionary

Disorder caused by abnormal metabolism of cystine. Wiktionary (translation)

IS A

rare disease

genetic disease

lysosomal storage disease

autosomal recessive disease

HAS KIND

Abderhalden–Kaufmann–Lignac syndrome

DRUG USED FOR TREATMENT

cysteamine

GENETIC ASSOCIATION