Hypocalcemic Vitamin D-resistant Rickets

Description

Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.

Clinical Features

Top most frequent phenotypes and symptoms related to Hypocalcemic Vitamin D-resistant Rickets

  • Short stature
  • Scoliosis
  • Gait disturbance
  • Frontal bossing
  • Abnormality of the dentition
  • Alopecia
  • Dolichocephaly
  • Genu valgum
  • Recurrent fractures
  • Abnormality of the skin

And another 18 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

Hypocalcemic Vitamin D-resistant Rickets Is also known as vdrr ii, vddr ii, vitamin d-dependent rickets type ii, hvdrr, hereditary vitamin d-resistant rickets, vitamin d-resistant rickets type ii.

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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Hypocalcemic Vitamin D-resistant Rickets Recommended genes panels

Panel Name, Specifity and genes Tested/covered
VDR Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

VDR
Specificity
100 %
Genes
100 %
VDR Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

VDR
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 %
Vitamin D-resistant rickets (sequence analysis of VDR gene).

By CGC Genetics (Portugal).

VDR
Specificity
100 %
Genes
100 %
Rickets (NGS panel for 10 genes).

By CGC Genetics (Portugal).

VDR, CLCN5, SLC34A3, CYP2R1, CYP27B1, DMP1, ENPP1, FGF23, ALPL, PHEX
Specificity
10 %
Genes
100 %
VITAMIN D-DEPENDENT RICKETS, TYPE 2A.

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

VDR
Specificity
100 %
Genes
100 %

We have 25 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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