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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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
低镁血症1型,肠道型,又称肠道低镁血症1型,与低镁血症3型、肾性低镁血症和常染色体显性1型低钙血症有关,其症状包括癫痫发作和痉挛。与肠道型低镁血症1型相关的基因包括TRPM6(瞬时受体电位阳离子通道家族M成员6),其相关通路/超通路包括无机离子/氨基酸/寡肽的运输和离子通道运输。在该疾病的背景下,已提到的药物包括雷帕霉素和苯佐卡因。相关组织包括肾脏和心脏,相关表型为低钙血症和低镁血症。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
--
15
71
24

Medical Symptom

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

Gene & Mutation

#
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

Title
PMID
Journal
Year
IF
No Data Found!
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