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
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
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
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
Search interest in PTH1R
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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