CYP27B1 gene related symptoms and diseases

All the information presented here about the CYP27B1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CYP27B1 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Widely patent fontanelles and sutures Very Common - Between 80% and 100% cases
Osteomalacia Very Common - Between 80% and 100% cases
Protuberant abdomen Very Common - Between 80% and 100% cases
Delayed epiphyseal ossification Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CYP27B1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Elevated circulating parathyroid hormone level
  • Thin bony cortex
  • Hypophosphatemic rickets
  • Generalized aminoaciduria
  • Difficulty standing
  • Hypocalcemic seizures
  • Fibular bowing
  • Tibial bowing

And 34 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CYP27B1 gene

Here you will find a list of rare diseases related to the CYP27B1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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 CYP27B1 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

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

CYP27B1 Select Exons Sequencing Panel

United States.

By GeneDx

This panel specifically test the CYP27B1 gene.

More info about this panel

CYP27B1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CYP27B1 gene.

More info about this panel

Vitamin D-dependent rickets type I (sequence analysis of CYP27B1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CYP27B1 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

VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the CYP27B1 gene.

More info about this panel

Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS

More info about this panel

Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection that also includes the following genes: SLC34A3 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX

More info about this panel

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

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

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

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

Comprehensive mitochondrial disorders panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC

More info about this panel

Rickets, vitamin D dependent, type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CYP27B1 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

Rickets, Vitamin D-dependent Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the CYP27B1 gene.

More info about this panel

Rickets, Vitamin D-dependent Panel

Slovakia.

By MedGene

This panel specifically test the CYP27B1 gene.

More info about this panel

Vitamin D-dependent rickets, type I: CYP27B1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CYP27B1 gene.

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

CYP27B1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CYP27B1 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

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

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

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

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

Vitamin D-dependent rickets, type I Panel

Spain.

By Bioarray

This panel specifically test the CYP27B1 gene.

More info about this panel

HYPOCALCEMIC VITAMIN D-DEPENDENT RICKETS (1-ALPHA-HYDROXYLASE DEFICIENCY) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the CYP27B1 gene.

More info about this panel

Hereditary Hypocalcemic Rickets Vitamin D Dependent, Sequencing CYP27B1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CYP27B1 gene.

More info about this panel

Hypophosphatemic Rickets , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Hypophosphatemic Rickets , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SLC34A3 CYP27B1 DMP1 ENPP1 FGF23 ALPL PHEX

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

planTrue Extended Panel

United States.

By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1

More info about this panel


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