Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis

Summary

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (MONDO:0017624) is a disease. A subtype of familial primary hypomagnesemia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: (Worldwide) [Orphanet-validated]

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		200	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Europe	Not yet validated

Identifiers

Disease identifiers

Field	Value
Canonical name	familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Mondo ID	MONDO:0017624
Orphanet	306516
UMLS	C5679977
MedGen	1843047
GARD	0021254
Is cancer (heuristic)	no

Also known as: FHHNC · Michellis-Castrillo syndrome

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 hypercalciuria and nephrocalcinosis

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

Subtypes (2): renal hypomagnesemia 5 with ocular involvement, renal hypomagnesemia 3

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.