Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9.
Eggermann
T
T
Elbracht
M
M
Haverkamp
F
F
Schmidt
C
C
Zerres
K
K
D026923:Amino Acid Transport Systems, Basic / Q000235:genetics*; D003553:Cystine / Q000032:analysis; D003555:Cystinuria / Q000175:diagnosis / Q000235:genetics* / Q000652:urine; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D000096927:AIRE Protein
D026923:Amino Acid Transport Systems, Basic; D003553:Cystine; D014157:Transcription Factors; D000096927:AIRE Protein; C499489:SLC7A9 protein, human