Autosomal Dominant Hypophosphatemic Rickets

Description

Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Dominant Hypophosphatemic Rickets

  • Short stature
  • Muscle weakness
  • Fatigue
  • Congestive heart failure
  • Abnormality of the dentition
  • Recurrent fractures
  • Bone pain
  • Hypophosphatemia
  • Osteomalacia
  • Spinal canal stenosis

And another 3 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 Hypophosphatemic Rickets Is also known as adhr, autosomal dominant hypophosphatemia.

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 Hypophosphatemic Rickets Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypophosphatemic Rickets Evalation.

By Athena Diagnostics Inc (United States).

FGF23, PHEX
Specificity
50 %
Genes
100 %
FGF23 (Hypophosphatemic Rickets) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

FGF23
Specificity
100 %
Genes
100 %
Hypophosphatemic Rickets Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

VDR, CLCN5, SLC34A3, CYP2R1, CYP27B1, DMP1, ENPP1, FGF23, ALPL, PHEX
Specificity
10 %
Genes
100 %
Hypophosphatemic Rickets Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

VDR, CLCN5, SLC34A3, CYP2R1, CYP27B1, DMP1, ENPP1, FGF23, ALPL, PHEX
Specificity
10 %
Genes
100 %
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
100 %
FGF23 Gene Sequencing.

By GeneDx (United States).

FGF23
Specificity
100 %
Genes
100 %
Osteogenesis Imperfecta & Low Bone Mass Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BMP1, SEC24D, SPARC, WNT1, CASR, SERPINH1, IFITM5, SP7, FKBP10, CREB3L1, P3H1, SLC34A3, COL1A2, CRTAP, TMEM38B, GORAB, DMP1, ENPP1, FGF23, ALPL , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
FGF23. Complete sequencing.

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

FGF23
Specificity
100 %
Genes
100 %

We have 56 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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