VDR gene related symptoms and diseases
All the information presented here about the VDR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to VDR gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hyperparathyroidism | Very Common - Between 80% and 100% cases |
| Frontal bossing | Common - Between 50% and 80% cases |
| Osteomalacia | Common - Between 50% and 80% cases |
| Alopecia | Common - Between 50% and 80% cases |
| Recurrent fractures | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with VDR gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of the skin
- Hypophosphatemia
- Secondary hyperparathyroidism
- Bone pain
- Hypocalcemia
Not very common - Between 30% and 50% cases
- Premature loss of teeth
- Alopecia totalis
- Thin bony cortex
And 63 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to VDR gene
Here you will find a list of rare diseases related to the VDR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS
Alternate 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
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.
Most common symptoms of HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS
- Short stature
- Scoliosis
- Gait disturbance
- Frontal bossing
- Abnormality of the dentition
More info about HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS
SOURCES: ORPHANET
VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A
Alternate 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-
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 ).
Most common symptoms of VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A
- Generalized hypotonia
- Hearing impairment
- Growth delay
- Failure to thrive
- Sensorineural hearing impairment
More info about VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A
SOURCES: OMIM
OSTEOPOROSIS
Alternate names
OSTEOPOROSIS Is also known as bone mineral density quantitative trait locus, osteoporosis, postmenopausal, bmnd, osteoporosis, involutional
Most common symptoms of OSTEOPOROSIS
- Osteoporosis
- Hypercalcemia
- Hyperparathyroidism
- Secondary hyperparathyroidism
More info about OSTEOPOROSIS
SOURCES: OMIM
Search interest in VDR
Potential gene panels for VDR gene
VDR Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the VDR gene.
More info about this panel United States.
VDR Sequence Analysis (Familial Mutation/Variant Analysis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the VDR gene.
More info about this panel United States.
Hypophosphatemic Rickets Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hypophosphatemic Rickets Deletion/Duplication Panel that also includes the following genes: VDR CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX
More info about this panel United States.
Hypophosphatemic Rickets Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hypophosphatemic Rickets Sequencing Panel that also includes the following genes: VDR CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX
More info about this panel United States.
ExomePLUS Electrolyte & Kidney Stone Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Electrolyte & Kidney Stone that also includes the following genes: SCNN1A SCNN1B SLC12A1 SLC12A3 SLC2A2 VDR WNK4 CASR BSND CDC73
More info about this panel United States.
Vitamin D-resistant rickets (sequence analysis of VDR gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the VDR gene.
More info about this panel Portugal.
Rickets (NGS panel for 10 genes) Panel
Portugal.
By CGC Genetics Rickets (NGS panel for 10 genes) that also includes the following genes: VDR CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX
More info about this panel Portugal.
VITAMIN D-DEPENDENT RICKETS, TYPE 2A Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the VDR gene.
More info about this panel Germany.
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2
More info about this panel United States.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panel United States.
Abnormal mineralization disorders Comprehensive Panel Panel
United States.
By Connective Tissue Gene Tests Abnormal mineralization disorders Comprehensive Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1
More info about this panel United States.
Abnormal mineralization disorders Deletion/ Duplication Panel Panel
United States.
By Connective Tissue Gene Tests Abnormal mineralization disorders Deletion/ Duplication Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1
More info about this panel United States.
Abnormal mineralization disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Abnormal mineralization disorders NGS panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1
More info about this panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Rickets, vitamin D-resistant, type IIA Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the VDR gene.
More info about this panel Germany.
Hypophosphatemic rickets Panel Panel
Germany.
By CeGaT GmbH Hypophosphatemic rickets Panel that also includes the following genes: SLC34A1 VDR CLCN5 SLC34A3 DMP1 ENPP1 FAH FGF23 KL OCRL
More info about this panel Germany.
Skeletal dysplasia with abnormal mineralization Panel Panel
Germany.
By CeGaT GmbH Skeletal dysplasia with abnormal mineralization Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1
More info about this panel Germany.
Rickets, vitamin D-resistant IIA Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the VDR gene.
More info about this panel Austria.
Rickets, vitamin D-resistant IIA Panel
Slovakia.
By MedGene
This panel specifically test the VDR gene.
More info about this panel Slovakia.
VDR: VDR gene polymorphism (BsmI) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the VDR gene.
More info about this panel Spain.
VDR Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the VDR gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel United States.
Hypophosphatemic Rickets Panel Panel
Finland.
By Blueprint Genetics Hypophosphatemic Rickets Panel that also includes the following genes: SLC34A1 VDR CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1 ENPP1 FAH FGF23
More info about this panel Finland.
Skeletal Dysplasias Core Panel Panel
Finland.
By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
More info about this panel Finland.
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel Finland.
Skeletal Dysplasia with Abnormal Mineralization Panel Panel
Finland.
By Blueprint Genetics Skeletal Dysplasia with Abnormal Mineralization Panel that also includes the following genes: SOX9 TNFRSF11A TNFRSF11B VDR SNX10 CASR ANKH FKBP10 P3H1 CLCN5
More info about this panel Finland.
Nephrolithiasis Panel Panel
Finland.
By Blueprint Genetics Nephrolithiasis Panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
Rickets, vitamin D-resistant, type IIA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the VDR gene.
More info about this panel Spain.
Hereditary Hypocalcemic Vitamin D-Resistant Rickets , Sequencing VDR Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the VDR gene.
More info about this panel Spain.
Osteoporosis Susceptibility to , Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Osteoporosis Susceptibility to , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: VDR CALCR COL1A2 LRP5
More info about this panel Spain.
Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes Panel
Spain.
By Reference Laboratory Genetics Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes that also includes the following genes: SLC34A1 SLC9A3R1 TJP2 VDR CASR ANKH CLCN5 SLC34A3 CYP2R1 FAM20C
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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