Vitamin D-dependent Rickets, Type 2a; Vddr2a

Description

Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets.VDDR2B (OMIM ) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction.For a general phenotypic description and discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A ).

Clinical Features

Top most frequent phenotypes and symptoms related to Vitamin D-dependent Rickets, Type 2a; Vddr2a

  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Muscular hypotonia
  • Motor delay
  • Depressed nasal bridge
  • Epicanthus

And another 45 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

Vitamin D-dependent Rickets, Type 2a; Vddr2a Is also known as generalized resistance to 1,25-dihydroxyvitamin d, rickets-alopecia syndrome, vitamin d-dependent rickets, type 2a, with or without alopecia, vitamin d-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol, hypocalcemic vitamin d-.

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.

Vitamin D-dependent Rickets, Type 2a; Vddr2a 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 %

You can get up to 25 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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