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Autosomal dominant primary hypomagnesemia with hypocalciuria
1 OMIM reference -
2 associated genes
12 connected diseases
No signs/symptoms info
Disease Type of connection
17q12 microdeletion syndrome
Classic Mayer-Rokitansky-Küster-Hauser syndrome
Familial prostate cancer
MURCS association
Renal cysts and diabetes syndrome
Melanoma of soft part
Hyperinsulinism due to HNF1A deficiency
MODY syndrome
Dehydratase deficiency
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Synonym(s):
- HOMG2
- Isolated autosomal dominant hypomagnesemia
- Isolated renal magnesium wasting
- Renal hypomagnesemia type 2
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
FXYD2 P54710601814
HNF1B P35680189907
No signs/symptoms info available.