Hypocalcemic Vitamin D-resistant Rickets

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Hypocalcemic Vitamin D-resistant Rickets

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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.

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 Panel complete gene list SCNN1A, SCNN1B, SLC12A1, SLC12A3, SLC2A2, VDR, WNK4, CASR, BSND, CDC73, SLC22A12, CLCN5, CLCNKB, SLC34A3, CLDN16, CLDN19, FAM20C, FAM20A, HOGA1, CTNS, CUL3, CYP11B2, CYP24A1, ENPP1, AGXT, FAH, FGF23, GALNT3, GATA3, GCM2, GNA11, GNAS, GRHPR, HPRT1, HSD11B2, AP2S1, KCNJ1, APRT, AQP2, KLHL3, NR3C2, OCRL, ATP6V1B1, ATP6V0A4, PHEX, AVP, AVPR2, PTH 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 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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