Hypomagnesemia 1, Intestinal (HOMG1)

Alias:
Intestinal Hypomagnesemia 1
Intestinal Hypomagnesemia with Secondary Hypocalcemia
Hypomagnesemia with Secondary Hypocalcemia
Homg1
Hsh
Hypomagnesemic Tetany
Hypomagnesemia Caused by Selective Magnesium Malabsorption
Primary Hypomagnesemia with Secondary Hypocalcemia
Hypomagnesemia Intestinal Type 1
Homg
Phsh
Hypomagnesemia, Intestinal, with Secondary Hypocalcemia
Familial Primary Hypomagnesemia with Hypocalcuria
Hypomagnesmic Tetany
Hypomagnesemia 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypomagnesemia 1, Intestinal, also known as intestinal hypomagnesemia 1, is related to hypomagnesemia 3, renal and hypocalcemia, autosomal dominant 1, and has symptoms including seizures and spasm. An important gene associated with Hypomagnesemia 1, Intestinal is TRPM6 (Transient Receptor Potential Cation Channel Subfamily M Member 6), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Ion channel transport. The drugs Temsirolimus and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include kidney and heart, and related phenotypes are hypocalcemia and hypomagnesemia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
15
71
24

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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