Familial primary hypomagnesemia with normocalcuria

Summary

Familial primary hypomagnesemia with normocalcuria (MONDO:0017626) is a disease. A subtype of familial primary hypomagnesemia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	familial primary hypomagnesemia with normocalcuria
Mondo ID	MONDO:0017626
Orphanet	306522
GARD	0025121
Is cancer (heuristic)	no

Disease family

This is a subtype of familial primary hypomagnesemia. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › inborn metal metabolism disorder › familial primary hypomagnesemia › familial primary hypomagnesemia with normocalcuria

Related subtypes (4): familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis, familial primary hypomagnesemia with hypocalcuria, EGF-related primary hypomagnesemia with intellectual disability, hypomagnesemia 7, renal, with or without dilated cardiomyopathy

Subtypes (3): intestinal hypomagnesemia 1, isolated autosomal dominant hypomagnesemia, Glaudemans type, familial primary hypomagnesemia with normocalciuria and normocalcemia

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.