CYP2R1 gene related symptoms and diseases

All the information presented here about the CYP2R1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CYP2R1 gene

Symptoms // Phenotype % Cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Tibial bowing Very Common - Between 80% and 100% cases
Deformed rib cage Very Common - Between 80% and 100% cases
Bulging of the costochondral junction Very Common - Between 80% and 100% cases
Bulging epiphyses Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CYP2R1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Sparse bone trabeculae
  • Growth delay
  • Enlargement of the costochondral junction
  • Enlargement of the wrists
  • Widely patent fontanelles and sutures
  • Fibular bowing
  • Difficulty standing
  • Thin bony cortex

And 35 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CYP2R1 gene

Here you will find a list of rare diseases related to the CYP2R1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B


Alternate 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

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.

Most common symptoms of VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


More info about VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B

SOURCES: OMIM MESH

HYPOCALCEMIC VITAMIN D-DEPENDENT RICKETS


Alternate names

HYPOCALCEMIC VITAMIN D-DEPENDENT RICKETS Is also known as vddi, vitamin d-dependency type i, vddr-i, vitamin d-dependent rickets, type 1a, vitamin d dependency, type 1, pddr1a, 1-alpha, 25-hydroxyvitamin d3 deficiency, selective, 25-hydroxycholecalciferol-1-hydroxylase deficiency, pddr ia, 1-alpha-hydroxylase deficiency,

Description

Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.

Most common symptoms of HYPOCALCEMIC VITAMIN D-DEPENDENT RICKETS

  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscular hypotonia


More info about HYPOCALCEMIC VITAMIN D-DEPENDENT RICKETS

SOURCES: ORPHANET OMIM


Potential gene panels for CYP2R1 gene

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

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

Rickets due to defect in vitamin D 25-hydroxylation (sequence analysis of gene CYP2R1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CYP2R1 gene.

More info about this panel

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

Rickets, vitamin D 25-hydroxylation-deficient, type 1B Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CYP2R1 gene.

More info about this panel

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

CYP2R1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CYP2R1 gene.

More info about this panel

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

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

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


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