Hypomagnesemia 5, Renal, with or Without Ocular Involvement (HOMG5)

Alias:

Fhhnc with Severe Ocular Involvement

Renal Hypomagnesemia 5 with Ocular Involvement

Hypercalciuria-Bilateral Macular Coloboma Syndrome

Meier-Blumberg-Imahorn Syndrome

Familial Hypomagnesemia with Hypercalciuria, Nephrocalcinosis and Severe Ocular Involvement

Hypomagnesemia 5, Renal, with Ocular Involvement

Hypomagnesemia, Renal, with Ocular Involvement

Meier Blumberg Imahorn Syndrome

Homg5

Hypomagnesemia, Familial, with Hypercalciuria, Nephrocalcinosis, and Severe Ocular Involvement

Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis with Severe Ocular Involvement

Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis with Severe Ocul

Hypomagnesemia, Type 5, Renal, with Ocular Involvement

Macular Coloboma, Bilateral, with Hypercalciuria

Bilateral Macular Coloboma with Hypercalciuria

Hypomagnesemia 5 Renal with Ocular Involvement

Macular Coloboma Bilateral with Hypercalciuria

Hypomagnesemia Renal with Ocular Involvement

Hypomagnesemia 5

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hypomagnesemia 5, Renal, with or Without Ocular Involvement, also known as fhhnc with severe ocular involvement, is related to hypomagnesemia 3, renal and primary hypomagnesemia with hypercalciuria and nephrocalcinosis. An important gene associated with Hypomagnesemia 5, Renal, with or Without Ocular Involvement is CLDN19 (Claudin 19), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Cell junction organization. Affiliated tissues include eye and kidney, and related phenotypes are nystagmus and abnormality of retinal pigmentation

Related ID：

MALACARDS：HYP827

OMIM：248190

MESH：C536148