Vitamin D Hydroxylation-deficient Rickets, Type 1b; Vddr1b

Description

An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets.

Clinical Features

Top most frequent phenotypes and symptoms related to Vitamin D Hydroxylation-deficient Rickets, Type 1b; Vddr1b

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Frontal bossing
  • Difficulty walking
  • Recurrent fractures
  • Bone pain
  • Elevated alkaline phosphatase

And another 19 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 Hydroxylation-deficient Rickets, Type 1b; Vddr1b Is also known as 25-hydroxyvitamin d3 deficiency, selective, pseudovitamin d3 deficiency rickets due to 25-hydroxylase deficiency, vitamin d-dependent rickets, type 1b.

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 Hydroxylation-deficient Rickets, Type 1b; Vddr1b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Rickets due to defect in vitamin D 25-hydroxylation (sequence analysis of gene CYP2R1 gene).

By CGC Genetics (Portugal).

CYP2R1
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 %
Rickets, vitamin D 25-hydroxylation-deficient, type 1B.

By Centogene AG - the Rare Disease Company (Germany).

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

By CeGaT GmbH (Germany).

SLC34A1, SLC9A3R1, VDR, CASR, ANKH, CLCN5, SLC34A3, CYP2R1, CYP27B1, DMP1, ENPP1, FGF23, GNA11, ALPL, AP2S1, PHEX
Specificity
7 %
Genes
100 %
CYP2R1.

By Fulgent Genetics Fulgent Genetics (United States).

CYP2R1
Specificity
100 %
Genes
100 %
Hypophosphatemic Rickets Panel.

By Blueprint Genetics (Finland).

SLC34A1, VDR, CLCN5, SLC34A3, CYP2R1, CYP27B1, DMP1, ENPP1, FAH, FGF23, ALPL, KL, PHEX
Specificity
8 %
Genes
100 %

You can get up to 2 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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