Autosomal dominant primary hypomagnesemia with hypocalcuria

General Information (adopted from Orphanet):

Synonyms, Signs: MAGNESIUM LOSS, ISOLATED RENAL
MAGNESIUM WASTING, RENAL
HOMG2
Renal hypomagnesemia type 2
Number of Symptoms 6
OrphanetNr: 34528
OMIM Id: 154020
ICD-10: E83.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial primary hypomagnesemia with hypocalcuria
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0005567) Renal magnesium wasting 5 / 7739
2
 (HPO:0001250) Seizures 1245 / 7739
3
 (HPO:0002917) Hypomagnesemia 19 / 7739
4
 (OMIM) Normal parathyroid hormone 2 / 7739
5
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
 (OMIM) Decreased renal calcium excretion 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Geven et al. (1987) reported 2 unrelated families in which hypomagnesemia due to renal magnesium loss was inherited as an autosomal dominant trait. Magnesium infusions performed in 2 patients showed not only a reduced renal magnesium threshold but ...
Molecular genetics OMIM Meij et al. (2000) identified a putative dominant-negative mutation in the gene encoding the Na+,K(+)-ATPase gamma subunit (FXYD2; 601814). Candidate screening of 11q23, where HOMG2 had been mapped, yielded an EST encoding a protein highly homologous to the ...