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HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING

MedGen UID:: 462832
•Concept ID:: C3151482
•: Disease or Syndrome

OMIM®:

248250; 603959

Recent clinical studies

Prognosis

A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting.

Müller D, Kausalya PJ, Claverie-Martin F, Meij IC, Eggert P, Garcia-Nieto V, Hunziker W
Am J Hum Genet 2003 Dec;73(6):1293-301. Epub 2003 Nov 18 doi: 10.1086/380418. PMID: 14628289 Free PMC Article

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HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING
HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING

MedGen
C3151482[conceptid] (1)
MedGen
"HUMAN IMMUNODEFICIENCY VIRUS DEMENTIA, SUSCEPTIBILITY TO"[Diseas... (0)
"HUMAN IMMUNODEFICIENCY VIRUS DEMENTIA, SUSCEPTIBILITY TO"[Disease/phenotype] AND "OMIM"[submitter]
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ClinVar
"HTR2C POLYMORPHISM"[Disease/phenotype] AND "OMIM"[submitter] (1)
ClinVar
"HSD17B13 POLYMORPHISM"[Disease/phenotype] AND "OMIM"[submitter] (1)
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