Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia

Description

Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.

Clinical Features

Top most frequent phenotypes and symptoms related to Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia

  • Seizures
  • Microcephaly
  • Ventriculomegaly
  • Headache
  • Obesity
  • Intellectual disability, moderate
  • Autistic behavior
  • Poor speech
  • Vertigo
  • Generalized muscle weakness

And another 5 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypomagnesemia type 4 (sequence analysis of EGF gene).

By CGC Genetics (Portugal).

EGF
Specificity
100 %
Genes
50 %
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
12 %
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
12 %
Genes
100 %
Hypomagnesemia 4, renal.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

EGF
Specificity
100 %
Genes
50 %
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
13 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...)

View the complete list with 386 more genes
Specificity
1 %
Genes
100 %
Single gene testing EGF.

By CeGaT GmbH (Germany).

EGF
Specificity
100 %
Genes
50 %
EGF.

By Fulgent Genetics Fulgent Genetics (United States).

EGF
Specificity
100 %
Genes
50 %

We have 13 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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