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.

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.

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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)


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 more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Genetic Syndrome Finder

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