Primary Hypomagnesemia With Secondary Hypocalcemia
Description
Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.
Genes related to Primary Hypomagnesemia With Secondary Hypocalcemia
- TRPM6
Clinical Features
Top most frequent phenotypes and symptoms related to Primary Hypomagnesemia With Secondary Hypocalcemia
- Intellectual disability
- Seizures
- Feeding difficulties
- Tremor
- Diarrhea
- Arrhythmia
- Malabsorption
- Cyanosis
- Chronic diarrhea
- Hypocalcemia
And another 10 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Primary Hypomagnesemia With Secondary Hypocalcemia Is also known as phsh, hypomagnesemic tetany, hsh, homg, hypomagnesemia with secondary hypocalcemia, intestinal hypomagnesemia with secondary hypocalcemia, hypomagnesemia caused by selective magnesium malabsorption, homg1, hypomagnesemia, intestinal, with secondary hypocalcemia, h.
Researches and researchers
Doctors, researchs, and experts related to Primary Hypomagnesemia With Secondary Hypocalcemia extracted from public data.
Primary Hypomagnesemia With Secondary Hypocalcemia Experts map
Current Researchs and researchers
-
MÜNCHEN — Pr Thomas GUDERMANN
Investigator of research project
-
Institution/s:
— Walther-Straub-Institut für Pharmakologie und Toxikologie der LMU München -
Research area/topic::
Role of kinase-coupled TRP channels in Mg2+ homeostasis: From mouse models to human disease (TRR 152: P15)
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Institution/s:
Primary Hypomagnesemia With Secondary Hypocalcemia Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
TRPM6. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
TRPM6
Specificity
100 %
Genes
100 % |
Hypomagnesemia type 1 (sequence analysis of TRPM6 gene).
By CGC Genetics (Portugal).
TRPM6
Specificity
100 %
Genes
100 % |
Hypomagnesemia type 1 (deletion/duplication analysis of TRPM6 gene).
By CGC Genetics (Portugal).
TRPM6
Specificity
100 %
Genes
100 % |
Hypomagnesemia (NGS panel for 17 genes).
By CGC Genetics (Portugal).
CNNM2, SLC12A3, HNF1B, CASR, BSND, SARS2, TRPM6, CLCNKB, CLDN16, CLDN19, FAM111A, EGF, EGFR, FXYD2, KCNA1, KCNJ10, PCBD1
Specificity
6 %
Genes
100 % |
Hypomagnesemia (NGS panel for 17 genes).
By CGC Genetics (Portugal).
CNNM2, SLC12A3, HNF1B, CASR, BSND, SARS2, TRPM6, CLCNKB, CLDN16, CLDN19, FAM111A, EGF, EGFR, FXYD2, KCNA1, KCNJ10, PCBD1
Specificity
6 %
Genes
100 % |
Hypomagnesemia type 1 (deletion/duplication analysis of TRPM6 gene).
By CGC Genetics (Portugal).
TRPM6
Specificity
100 %
Genes
100 % |
Hypomagnesemia 1, intestinal.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).
TRPM6
Specificity
100 %
Genes
100 % |
Hypomagnesemia Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
CNNM2, SLC12A3, HNF1B, CASR, BSND, SARS2, TRPM6, CLDN16, CLDN19, FAM111A, EGF, EGFR, FXYD2, KCNA1, KCNJ10, PCBD1
Specificity
7 %
Genes
100 % |
You can get up to 13 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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