Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement

Description

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.

Clinical Features

Top most frequent phenotypes and symptoms related to Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Failure to thrive
  • Strabismus
  • Sensorineural hearing impairment
  • Muscle weakness
  • Hypertension
  • Myopia
  • Renal insufficiency

And another 44 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement Is also known as fhhnc without severe ocular involvement, homg3, hypomagnesemia, isolated renal, hypomagnesemia, primary, due to defect in renal tubular transport of magnesium, renal hypomagnesemia type 3, hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis.

Researches and researchers

Doctors, researchs, and experts related to Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement extracted from public data.

Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement Experts map



Current Researchs and researchers

  • PARIS — Pr Pascal HOUILLIER

    Coordinator of expert centre - Clinical expert - Responsible for diagnostic tests - Investigator of research project - Coordinator of research network - Director of laboratory

    • Institution/s:
      — CRC - INSERM UMRS 1138, Centre de Recherches des Cordeliers (CRC)
      — Département de physiologie et radio-isotopes, CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
      — CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
      — CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
    • Research area/topic::

      T-JUST: Tight junctions: from structure to treatment - FR


  • BERLIN — Dr Dominik N MÜLLER

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Max-Delbrück-Centrum für Molekulare Medizin
    • Research area/topic::

      EUNEFRON: rare disorders of the thick ascending limb of Henle's loop (WP3)


Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ExomePLUS Electrolyte & Kidney Stone.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

SCNN1A, SCNN1B, SLC12A1, SLC12A3, SLC2A2, VDR, WNK4, CASR, BSND, CDC73, SLC22A12, CLCN5, CLCNKB, SLC34A3, CLDN16, CLDN19, FAM20C, FAM20A, HOGA1, CTNS , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %
CLDN16.Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

CLDN16
Specificity
100 %
Genes
50 %
Renal hypomagnesemia with hypercalciuria and nephrocalcinosis (sequence analysis of CLDN16 gene).

By CGC Genetics (Portugal).

CLDN16
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 3, renal.

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

CLDN16
Specificity
100 %
Genes
50 %
Renal Hypomagnesemia 3 via CLDN16 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CLDN16
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 %

You can get up to 28 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Genetic Syndrome Finder

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