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Primary hypomagnesemia with secondary hypocalcemia
1 OMIM reference -
1 associated gene
2 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Synonym(s):
- HOMG1
- HSH
- Hypomagnesemia caused by selective magnesium malabsorption
- Hypomagnesemia intestinal type 1
- Intestinal hypomagnesemia with secondary hypocalcemia
- PHSH
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: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TRPM6 Q9BX84607009
No signs/symptoms info available.