Cystinuria (CSNU)

Alias:

Cystinuria Type B

Cystinuria Type a

Csnu

Cystinuria-Lysinuria Syndrome

Cystinuria, Type Non-I, Formerly

Cystinuria, Type Iii, Formerly

Cystinuria, Type Ii, Formerly

Cystinuria, Type I, Formerly

Cystinuria - Lysinuria

Cystinuria Type Non-I

Cystinuria-Lysinuria

Cystinuria, Type a/b

Cystinuria Type a/b

Cystinuria Type Iii

Csnu - [cystinuria]

Cystinuria Type Ii

Cystinuria Type I

Cystinuria Type 1

Csnu1, Formerly

Csnu3, Formerly

Cystine Disease

Cystinuria 1

Csnu1

Csnu3

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cystinuria, also known as csnu, is related to 2p21 microdeletion syndrome without cystinuria and hypotonia-cystinuria syndrome. An important gene associated with Cystinuria is SLC7A9 (Solute Carrier Family 7 Member 9), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs Penicillamine and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include Kidney and liver, and related phenotypes are abnormality of amino acid metabolism and nephrolithiasis

Related ID：

MALACARDS：CYS013

OMIM：220100

MESH：D003555

ICD11：1237620397