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.
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
Search interest in CYP27B1
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 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.
CYP27B1 Select Exons Sequencing Panel
United States.
By GeneDx
This panel specifically test the CYP27B1 gene.
More info about this panel United States.
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 Spain.
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 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 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 Germany.
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 United States.
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 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.
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 Germany.
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 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-dependent Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the CYP27B1 gene.
More info about this panel Austria.
Rickets, Vitamin D-dependent Panel
Slovakia.
By MedGene
This panel specifically test the CYP27B1 gene.
More info about this panel Slovakia.
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 Spain.
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 United States.
CYP27B1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CYP27B1 gene.
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.
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.
Vitamin D-dependent rickets, type I Panel
Spain.
By Bioarray
This panel specifically test the CYP27B1 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 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.
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 United States.
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