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GTR Home > Conditions/Phenotypes > Renal hypomagnesemia 5 with ocular involvement

Renal hypomagnesemia 5 with ocular involvement

Synonyms
FHHNC WITH SEVERE OCULAR INVOLVEMENT; HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT; HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA, NEPHROCALCINOSIS, AND SEVERE OCULAR INVOLVEMENT; Hypomagnesemia, Renal, with Ocular Involvement; MACULAR COLOBOMA, BILATERAL, WITH HYPERCALCIURIA
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

HOMG5 is an autosomal recessive disorder characterized by severe renal magnesium wasting, progressive renal failure, and nephrocalcinosis. Some patients also have severe visual impairment. Amelogenesis imperfecta has been reported in some patients (summary by Konrad et al., 2006 and Yamaguti et al., 2017). For a discussion of genetic heterogeneity of renal hypomagnesemia, see 602014. [from OMIM]

Available tests

42 tests are in the database for this condition.

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Clinical tests (41 available)

Molecular Genetics Tests

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Clinical features

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Imported from Human Phenotype Ontology (HPO)

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