Autosomal Dominant Primary Hypomagnesemia With Hypocalciuria

Description

Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Dominant Primary Hypomagnesemia With Hypocalciuria

  • Seizures
  • Hypertension
  • Fatigue
  • Renal insufficiency
  • Muscle cramps
  • Generalized muscle weakness
  • Hypokalemia
  • Pulmonary embolism
  • Hypomagnesemia
  • Chondrocalcinosis

And another 4 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

Autosomal Dominant Primary Hypomagnesemia With Hypocalciuria Is also known as isolated renal magnesium wasting, isolated autosomal dominant hypomagnesemia, magnesium wasting, renal, homg2, renal hypomagnesemia type 2, magnesium loss, isolated renal.

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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Autosomal Dominant Primary Hypomagnesemia With Hypocalciuria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
50 %
Monogenic Diabetes (MODY) Five Gene Evaluation (GCK,HNF1A,HNF1B,HNF4A,IPF1).

By Athena Diagnostics Inc (United States).

HNF1A, HNF1B, GCK, HNF4A, PDX1
Specificity
20 %
Genes
50 %
HNF1B DNA Sequencing and Deletion Evaluation.

By Athena Diagnostics Inc (United States).

HNF1B
Specificity
100 %
Genes
50 %
TCF2 (MODY5) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

HNF1B
Specificity
100 %
Genes
50 %
TCF2 (MODY5) DNA Sequencing and Deletion Test.

By Athena Diagnostics Inc (United States).

HNF1B
Specificity
100 %
Genes
50 %
Monogenic Diabetes (MODY) Four Gene Evaluation (GCK,HNF1A, HNF1B, HNF4A).

By Athena Diagnostics Inc (United States).

HNF1A, HNF1B, GCK, HNF4A
Specificity
25 %
Genes
50 %
Monogenic Diabetes (MODY) Three Gene Evaluation (GCK,HNF1A, HNF1B).

By Athena Diagnostics Inc (United States).

HNF1A, HNF1B, GCK
Specificity
34 %
Genes
50 %
Maturity-Onset Diabetes of the Young.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BLK, SLC2A2, HNF1A, HNF1B, KLF11, WFS1, NEUROG3, IER3IP1, RFX6, CP, PTF1A, CISD2, GLIS3, EIF2AK3, AKT2, GATA6, GCK, HNF4A, ABCC8, INS , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Symptoms Checker

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