Phenotype Library | Search Phenotypes

Renal Hypomagnesemia 3 (MONDO:0009550)

Open Trait in OLS

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.

Overview

Category

urinary system disorder

Ontology ID

Internal:10772

Synonyms

CLDN16 familial primary hypomagnesemia

CLDN16 primary hypomagnesemia

FHHNC without severe ocular involvement

HOMG3

familial primary hypomagnesemia caused by mutation in CLDN16

primary hypomagnesemia caused by mutation in CLDN16

renal hypomagnesemia type 3

hypercalciuria, childhood, self-limiting

hypomagnesemia 3, renal

hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis

hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis hypercalciuria, childhood, self-limiting, included

hypomagnesemia, isolated renal

hypomagnesemia, primary, due to defect in renal tubular Transport Of magnesium

hypomagnesemia, primary, due to defect in renal tubular Transport of magnesium

magnesium, defect in renal tubular transport of

Mapped terms

DOID:0060880

GARD:0002906

MEDGEN:120640

MESH:C537153

OMIM:248250

Orphanet:31043

SCTID:725033008

UMLS:C0268448

Child terms

Unknown children.