Vitamin D Hydroxylation-deficient Rickets, Type 1a; Vddr1a

Description

Vitamin D3 (cholecalciferol), synthesized in the epidermis in response to UV radiation, and dietary vitamin D2 (ergocalciferol, synthesized in plants) are devoid of any biologic activity. Vitamin D hormonal activity is due primarily to the hydroxylated metabolite of vitamin D3, 1-alpha,25-dihydroxyvitamin D3 (calcitriol), the actions of which are mediated by the vitamin D receptor (VDR ) (Koren, 2006; Liberman and Marx, 2001).In the liver, vitamin D 25-hydroxylase (CYP2R1 ) catalyzes the initial hydroxylation of vitamin D at carbon 25; in the kidney, 1-alpha-hydroxylase (CYP27B1 ) catalyzes the hydroxylation and metabolic activation of 25-hydroxyvitamin D3 into 1,25-dihydroxyvitamin D3. The active metabolite 1,25(OH)2D3 binds and activates the nuclear vitamin D receptor, with subsequent regulation of physiologic events such as calcium homeostasis and cellular differentiation and proliferation (Takeyama et al., 1997).Disorders of vitamin D metabolism or action lead to defective bone mineralization and clinical features including intestinal malabsorption of calcium, hypocalcemia, secondary hyperparathyroidism, increased renal clearance of phosphorus, and hypophosphatemia. The combination of hypocalcemia and hypophosphatemia causes impaired mineralization of bone that results in rickets and osteomalacia (Liberman and Marx, 2001). Genetic Heterogeneity of Vitamin D-Dependent RicketsVitamin D-dependent rickets type 1A (VDDR1A) is due to an enzymatic defect in synthesis of the active form of vitamin D caused by mutation in the CYP27B1 gene. VDDR1B (OMIM ) is a form of rickets due to mutation in the gene encoding a vitamin D 25-hydroxylase (CYP2R1 ), another enzyme necessary for the synthesis of active vitamin D. Vitamin D-dependent rickets type 2A (VDDR2A ) is caused by end-organ unresponsiveness of active vitamin D due to mutation in the gene encoding the vitamin D receptor (VDR ). VDDR2B {600785} is an unusual form of end-organ unresponsiveness to active vitamin D due to an abnormal protein (see HNRNPC, {164020}) that interferes with the function of the VDR. Other Forms of Hypophosphatemic RicketsFor a discussion of other forms of hypophosphatemic rickets, see ADHR (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Vitamin D Hydroxylation-deficient Rickets, Type 1a; Vddr1a

  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Motor delay
  • Muscular hypotonia
  • Frontal bossing
  • Difficulty walking
  • Irritability
  • Delayed eruption of teeth
And another 35 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Vitamin D Hydroxylation-deficient Rickets, Type 1a; Vddr1a Recommended genes panels

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

By Genetic Services Laboratory University of Chicago in United States.

ALPL, CYP27B1, VDR, PHEX, FGF23, ENPP1, CYP2R1, CLCN5, SLC34A3, DMP1
Specificity
20 %
Genes
100 %
Hypophosphatemic Rickets Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALPL, CYP27B1, VDR, PHEX, FGF23, ENPP1, CYP2R1, CLCN5, SLC34A3, DMP1
Specificity
20 %
Genes
100 %
Rickets due to defect in vitamin D 25-hydroxylation (sequence analysis of gene CYP2R1 gene).

By CGC Genetics in Portugal.

CYP2R1
Specificity
100 %
Genes
50 %
Rickets (NGS panel for 10 genes).

By CGC Genetics in Portugal.

ALPL, CYP27B1, VDR, PHEX, FGF23, ENPP1, CYP2R1, CLCN5, SLC34A3, DMP1
Specificity
20 %
Genes
100 %
Rickets, vitamin D 25-hydroxylation-deficient, type 1B.

By Centogene AG - the Rare Disease Company in Germany.

CYP2R1
Specificity
100 %
Genes
50 %
Skeletal dysplasia with abnormal mineralization Panel.

By CeGaT GmbH in Germany.

ALPL, ANKH, SLC34A1, SLC9A3R1, CYP27B1, VDR, CASR, PHEX, FGF23, GNA11, AP2S1, ENPP1, CYP2R1, CLCN5, SLC34A3, DMP1
Specificity
13 %
Genes
100 %
CYP2R1.

By Fulgent Genetics Fulgent Genetics in United States.

CYP2R1
Specificity
100 %
Genes
50 %
Hypophosphatemic Rickets Panel.

By Blueprint Genetics in Finland.

ALPL, SLC34A1, FAH, CYP27B1, VDR, PHEX, FGF23, ENPP1, CYP2R1, CLCN5, SLC34A3, DMP1, KL
Specificity
16 %
Genes
100 %
Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes.

By Reference Laboratory Genetics in Spain.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, FAM20C, VDR, CTNS, CASR, HNF4A, PHEX, FGF23, TJP2, PTH1R, ABCC6, SLC4A1, ATP6V0A4, BAAT , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
50 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
50 %
CYP27B1 Select Exons Sequencing.

By GeneDx in United States.

CYP27B1
Specificity
100 %
Genes
50 %
CYP27B1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CYP27B1
Specificity
100 %
Genes
50 %
Vitamin D-dependent rickets type I (sequence analysis of CYP27B1 gene).

By CGC Genetics in Portugal.

CYP27B1
Specificity
100 %
Genes
50 %
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A.

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

CYP27B1
Specificity
100 %
Genes
50 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
50 %
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, PHEX, FGF23, PLS3, TMEM38B, BMP1, WNT1, SERPINH1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALPL, CYP27B1, PHEX, FGF23, ENPP1, SLC34A3, DMP1
Specificity
15 %
Genes
50 %
Abnormal mineralization disorders Comprehensive Panel.

By Connective Tissue Gene Tests in United States.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, VDR, CASR, PHEX, FGF23, ENPP1, CLCN5, SLC34A3, DMP1
Specificity
7 %
Genes
50 %
Abnormal mineralization disorders Deletion/ Duplication Panel.

By Connective Tissue Gene Tests in United States.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, VDR, CASR, PHEX, FGF23, ENPP1, CLCN5, SLC34A3, DMP1
Specificity
7 %
Genes
50 %
Abnormal mineralization disorders NGS panel.

By Connective Tissue Gene Tests in United States.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, VDR, CASR, PHEX, FGF23, ENPP1, CLCN5, SLC34A3, DMP1
Specificity
7 %
Genes
50 %
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

MCCC1, MCCC2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRB, HLCS, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, STAR, MTRR , (...)

View the complete list with 160 more genes
Specificity
1 %
Genes
50 %
Rickets, vitamin D dependent, type 1.

By Centogene AG - the Rare Disease Company in Germany.

CYP27B1
Specificity
100 %
Genes
50 %
Rickets, Vitamin D-dependent.

By Praxis fuer Humangenetik Wien in Austria.

CYP27B1
Specificity
100 %
Genes
50 %
Rickets, Vitamin D-dependent.

By MedGene in Slovakia.

CYP27B1
Specificity
100 %
Genes
50 %
Vitamin D-dependent rickets, type I: CYP27B1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CYP27B1
Specificity
100 %
Genes
50 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
50 %
CYP27B1.

By Fulgent Genetics Fulgent Genetics in United States.

CYP27B1
Specificity
100 %
Genes
50 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
50 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
50 %
Skeletal Dysplasia with Abnormal Mineralization Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, B4GALT7, COL1A1, COL1A2, COL3A1, TNFRSF11A, FBN1, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, TNFRSF11B, COL5A1, COL5A2, VDR , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
50 %
Vitamin D-dependent rickets, type I.

By Bioarray in Spain.

CYP27B1
Specificity
100 %
Genes
50 %
HYPOCALCEMIC VITAMIN D-DEPENDENT RICKETS (1-ALPHA-HYDROXYLASE DEFICIENCY).

By Laboratorio de Genetica Clinica SL in Spain.

CYP27B1
Specificity
100 %
Genes
50 %
Hereditary Hypocalcemic Rickets Vitamin D Dependent, Sequencing CYP27B1 Gene.

By Reference Laboratory Genetics in Spain.

CYP27B1
Specificity
100 %
Genes
50 %
Hypophosphatemic Rickets , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

ALPL, CYP27B1, PHEX, FGF23, ENPP1, SLC34A3, DMP1
Specificity
15 %
Genes
50 %
planTrue Extended.

By True Health Diagnostics in United States.

FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1 , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
50 %

Alternate names

Vitamin D Hydroxylation-deficient Rickets, Type 1a; Vddr1a Is also known as vitamin d-dependent rickets, type 1a, 1-alpha, 25-hydroxyvitamin d3 deficiency, selective, 25-hydroxycholecalciferol-1-hydroxylase deficiency, 1-alpha-hydroxylase deficiency, vitamin d dependency, type 1;vdd1, pseudovitamin d-deficiency rickets, type ia;pddr1a, pddr ia;1-alpha-hydroxylase deficiency; pddri; pseudovitamin d-deficient rickets; vddi; vddr-i; vitamin d dependent rickets type i; vitamin d-dependency type i.


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