PTH1R gene related symptoms and diseases

All the information presented here about the PTH1R gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PTH1R gene

Symptoms // Phenotype % Cases
Severe short stature Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Bowing of the long bones Uncommon - Between 30% and 50% cases
Short ribs Uncommon - Between 30% and 50% cases
Skeletal dysplasia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PTH1R gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Proptosis
  • Metaphyseal cupping
  • Intellectual disability
  • Micrognathia
  • Osteolysis
  • Platyspondyly
  • Micromelia
  • Rarely - Less than 30% cases

  • Overgrowth

And 129 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PTH1R gene

Here you will find a list of rare diseases related to the PTH1R. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ENCHONDROMATOSIS

Alternate names

ENCHONDROMATOSIS Is also known as dyschondroplasia, ollier disease

Description

Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.

Most common symptoms of ENCHONDROMATOSIS

  • Neoplasm
  • Anemia
  • Joint stiffness
  • Platyspondyly
  • Micromelia


More info about ENCHONDROMATOSIS

SOURCES: ORPHANET

BLOMSTRAND LETHAL CHONDRODYSPLASIA

Alternate names

BLOMSTRAND LETHAL CHONDRODYSPLASIA Is also known as blomstrand chondrodysplasia, blomstrand osteochondrodysplasia, chondrodysplasia, blomstrand type, bocd, blc

Description

Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.

Most common symptoms of BLOMSTRAND LETHAL CHONDRODYSPLASIA

  • Micrognathia
  • Cataract
  • Low-set ears
  • Depressed nasal bridge
  • Anteverted nares


More info about BLOMSTRAND LETHAL CHONDRODYSPLASIA

SOURCES: ORPHANET OMIM MESH

METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE

Alternate names

METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE Is also known as metaphyseal chondrodysplasia, murk jansen type

Description

Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.

Most common symptoms of METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism


More info about METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE

SOURCES: OMIM MESH ORPHANET

EIKEN SYNDROME

Alternate names

EIKEN SYNDROME Is also known as bone modeling defect of hands and feet, eiken skeletal dysplasia

Description

Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.

Most common symptoms of EIKEN SYNDROME

  • Intellectual disability
  • Short stature
  • Severe short stature
  • Skeletal dysplasia
  • Arthralgia


More info about EIKEN SYNDROME

SOURCES: MESH OMIM ORPHANET

PRIMARY FAILURE OF TOOTH ERUPTION

Alternate names

PRIMARY FAILURE OF TOOTH ERUPTION Is also known as posterior openbite malocclusion, familial, unerupted second primary molar, dental noneruption, pfe, primary failure of eruption, nonsyndromic, primary retention of teeth

Most common symptoms of PRIMARY FAILURE OF TOOTH ERUPTION

  • Abnormality of the dentition
  • Hypodontia
  • Open bite
  • Agenesis of permanent teeth
  • Increased number of teeth


More info about PRIMARY FAILURE OF TOOTH ERUPTION

SOURCES: OMIM ORPHANET MESH


Potential gene panels for PTH1R gene

Non-immune Hydrops Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B

More info about this panel
United States.

Hyperparathyroidism Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hyperparathyroidism Deletion/Duplication Panel that also includes the following genes: CASR CDC73 CDKN1B GNA11 AP2S1 MEN1 PTH1R RET

More info about this panel
United States.

Hyperparathyroidism Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hyperparathyroidism Sequencing Panel that also includes the following genes: CASR CDC73 CDKN1B GNA11 AP2S1 MEN1 PTH1R RET

More info about this panel
United States.

PTH1R mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the PTH1R gene.

More info about this panel
Netherlands.

PTH1R. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PTH1R gene.

More info about this panel
Spain.

Eiken syndrome (sequence analysis of PTH1R gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PTH1R gene.

More info about this panel
Portugal.

Skeletal dysplasia (NGS panel for 31 genes) Panel

Portugal.

By CGC Genetics Skeletal dysplasia (NGS panel for 31 genes) that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 P3H1 SBDS SLC35D1 COL10A1

More info about this panel
Portugal.

Blomstrand lethal chondrodysplasia (sequence analysis of PTH1R gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PTH1R gene.

More info about this panel
Portugal.

Metaphyseal chondrodysplasia, Jansen type (sequence analysis of PTH1R gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PTH1R gene.

More info about this panel
Portugal.

Hypoparathyroidism Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypoparathyroidism Sequencing Panel with CNV Detection that also includes the following genes: SOX3 STX16 TBCE CASR FAM111A AIRE GATA3 GCM2 GNA11 GNAS

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.

Oligodontia - Selective tooth agenesis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Oligodontia - Selective tooth agenesis Comprehensive panel that also includes the following genes: WNT10B WNT10A EDA LRP6 LTBP3 MSX1 PAX9 AXIN2 PTH1R

More info about this panel
United States.

Oligodontia - Selective tooth agenesis NGS panel Panel

United States.

By Connective Tissue Gene Tests Oligodontia - Selective tooth agenesis NGS panel that also includes the following genes: WNT10B WNT10A EDA LRP6 LTBP3 MSX1 PAX9 AXIN2 PTH1R

More info about this panel
United States.

Oligodontia - Selective tooth agenesis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Oligodontia - Selective tooth agenesis Deletion / Duplication panel that also includes the following genes: WNT10B WNT10A EDA LRP6 LTBP3 MSX1 PAX9 AXIN2 PTH1R

More info about this panel
United States.

Skeletal dysplasia extended NGS panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia extended NGS panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP

More info about this panel
United States.

Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel
United States.

Skeletal dysplasia core & extended Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia core & extended Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1

More info about this panel
United States.

Skeletal dysplasia extended Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia extended Comprehensive panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP

More info about this panel
United States.

Skeletal dysplasia core & extended Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia core & extended Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1

More info about this panel
United States.

Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel
United States.

Spondylo-Epi-Metaphyseal dysplasias NGS panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias NGS panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel
United States.

Skeletal dysplasia core & extended NGS panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia core & extended NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1

More info about this panel
United States.

Skeletal dysplasia extended Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia extended Deletion / Duplication panel that also includes the following genes: RMRP NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1 COL11A2 DDR2 EBP

More info about this panel
United States.

Chondrodysplasia, Blomstrand type Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the PTH1R gene.

More info about this panel
United States.

Chondrodysplasia, Blomstrand type Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the PTH1R gene.

More info about this panel
United States.

Metaphyseal chondrodysplasia, Jansen type Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the PTH1R gene.

More info about this panel
United States.

Chondrodysplasia, Blomstrand type NGS test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the PTH1R gene.

More info about this panel
United States.

Eiken syndrome NGS test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the PTH1R gene.

More info about this panel
United States.

Eiken syndrome Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the PTH1R gene.

More info about this panel
United States.

Failure of tooth eruption, primary NGS test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the PTH1R gene.

More info about this panel
United States.

Metaphyseal chondrodysplasia, Jansen type NGS test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the PTH1R gene.

More info about this panel
United States.

Eiken syndrome Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the PTH1R gene.

More info about this panel
United States.

Failure of tooth eruption, primary Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the PTH1R gene.

More info about this panel
United States.

Failure of tooth eruption, primary Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the PTH1R gene.

More info about this panel
United States.

Metaphyseal chondrodysplasia, Jansen type Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the PTH1R gene.

More info about this panel
United States.

Skeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4

More info about this panel
United States.

Skeletal dysplasia and skeletal ciliopathy NGS panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4

More info about this panel
United States.

Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4

More info about this panel
United States.

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel
Germany.

Metaphyseal dysplasia Panel Panel

Germany.

By CeGaT GmbH Metaphyseal dysplasia Panel that also includes the following genes: RMRP RUNX2 SBDS COL10A1 FGFR3 MMP13 MMP9 PTH1R

More info about this panel
Germany.

Multiple epiphyseal dysplasia and pseudoachondroplasia Panel Panel

Germany.

By CeGaT GmbH Multiple epiphyseal dysplasia and pseudoachondroplasia Panel that also includes the following genes: SLC26A2 COL9A1 COL9A2 COL9A3 COMP MATN3 PTH1R

More info about this panel
Germany.

Potentially lethal skeletal disorders Panel Panel

Germany.

By CeGaT GmbH Potentially lethal skeletal disorders Panel that also includes the following genes: SLC26A2 SOX9 TRIP11 WNT7A NSDHL TRPV4 P3H1 CANT1 SLC35D1 COL11A1

More info about this panel
Germany.

Skeletal dysplasia with increased bone density Panel Panel

Germany.

By CeGaT GmbH Skeletal dysplasia with increased bone density Panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 CA2 SOST SNX10

More info about this panel
Germany.

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel
Spain.

Metaphyseal chondrodysplasia, Jansen type: PTHR1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PTH1R gene.

More info about this panel
Spain.

Skeletal dysplasias Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Skeletal dysplasias that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1

More info about this panel
Spain.

Disproportionate Short Stature: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11

More info about this panel
United States.

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel
United States.

Disproportionate Short Stature: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1

More info about this panel
United States.

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel
United States.

PTH1R Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PTH1R gene.

More info about this panel
United States.

Osteopetrosis and Dense Bone Dysplasia Panel Panel

Finland.

By Blueprint Genetics Osteopetrosis and Dense Bone Dysplasia Panel that also includes the following genes: SLCO2A1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST SNX10

More info about this panel
Finland.

Metaphyseal Dysplasia Panel Panel

Finland.

By Blueprint Genetics Metaphyseal Dysplasia Panel that also includes the following genes: RMRP RUNX2 ANKH CDKN1C SBDS COL10A1 FGFR3 FLNA MMP13 MMP9

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.

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.

METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the PTH1R gene.

More info about this panel
Spain.

MULTIPLE ENCHONDROMATOSIS (OLLIER SYNDROME) Panel

Spain.

By Laboratorio de Genetica Clinica SL MULTIPLE ENCHONDROMATOSIS (OLLIER SYNDROME) that also includes the following genes: IDH1 IDH2 PTH1R

More info about this panel
Spain.

SKELETAL DYSPLASIA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SKELETAL DYSPLASIA NGS PANEL that also includes the following genes: SLC26A2 SOX9 TRIP11 TRPV4 EVC2 SLC35D1 COL10A1 COL11A1 COL11A2 COL1A2

More info about this panel
Spain.

Metaphyseal Chondrodysplasia Jansen Type, Sequencing PTHR1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PTH1R gene.

More info about this panel
Spain.

Chondrodysplasia Blomstrand Type , Sequencing PTH1R Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PTH1R gene.

More info about this panel
Spain.

Metaphyseal Dysplasia Related Disorders , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Metaphyseal Dysplasia Related Disorders , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: RMRP COL10A1 MMP13 MMP9 PTH1R

More info about this panel
Spain.

Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes Panel

Spain.

By Reference Laboratory Genetics Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1

More info about this panel
Spain.

Dentinogenesis Imperfecta, Panel Massive Sequencing (NGS) 4 Genes Panel

Spain.

By Reference Laboratory Genetics Dentinogenesis Imperfecta, Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: WNT10A DSPP MSX1 PTH1R

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.

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