PTHLH gene related symptoms and diseases
All the information presented here about the PTHLH gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PTHLH gene
Symptoms // Phenotype | % Cases |
---|---|
Short metacarpal | Very Common - Between 80% and 100% cases |
Short metatarsal | Very Common - Between 80% and 100% cases |
Brachydactyly | Very Common - Between 80% and 100% cases |
Short stature | Very Common - Between 80% and 100% cases |
Delayed eruption of teeth | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PTHLH gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Aplasia/Hypoplasia of the distal phalanx of the hallux
- Straight clavicles
- Type E brachydactyly
- Multiple impacted teeth
- Moderately short stature
- Upper limb asymmetry
- Ectopic calcification
- Pseudohypoparathyroidism
And 12 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PTHLH gene
Here you will find a list of rare diseases related to the PTHLH. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BRACHYDACTYLY TYPE E
Alternate names
BRACHYDACTYLY TYPE E Is also known as bde, brachydactyly, type e
Description
Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.
Most common symptoms of BRACHYDACTYLY TYPE E
- Intellectual disability
- Short stature
- Ataxia
- Nystagmus
- Cataract
More info about BRACHYDACTYLY TYPE E
BRACHYDACTYLY, TYPE E2; BDE2
Most common symptoms of BRACHYDACTYLY, TYPE E2; BDE2
- Short stature
- Brachydactyly
- Delayed eruption of teeth
- Short metacarpal
- Oligodontia
More info about BRACHYDACTYLY, TYPE E2; BDE2
SOURCES: OMIM
Search interest in PTHLH
Potential gene panels for PTHLH gene
PTHLH. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PTHLH gene.
More info about this panelSkeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
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 panelIsolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel Panel
By CeGaT GmbH Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel that also includes the following genes: ROR2 BMP2 BMPR1B WNT10B WNT7A LMBR1 TP63 TRPV4 BHLHA9 FBLN1
More info about this panelLimb Malformation: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb Malformation: Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B FBXW4 SHH SOX9 TBX15 TBX3 TBX5
More info about this panelSkeletal Dysplasia: Sequencing Panel Panel
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 panelSkeletal Dysplasias NGS panel Panel
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 panelPTHLH Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PTHLH gene.
More info about this panelBrachydactyly / Syndactyly Panel Panel
By Blueprint Genetics Brachydactyly / Syndactyly Panel that also includes the following genes: ROR2 BMP2 BMPR1B SOX9 TP63 CHSY1 ESCO2 CCNQ DHCR7 GDF5
More info about this panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
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 panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
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 panelBrachydactyly type E Panel
By Bioarray
This panel specifically test the PTHLH gene.
More info about this panelBRACHYDACTYLY TYPE E2 Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the PTHLH gene.
More info about this panelBrachydactyly Type E2, Sequencing PTHLH Gene Panel
By Reference Laboratory Genetics
This panel specifically test the PTHLH gene.
More info about this panelBrachydactyly , Panel Massive Sequencing (NGS) 18 Genes Panel
By Reference Laboratory Genetics Brachydactyly , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: ROR2 BMP2 BMPR1B SOX9 TBX15 WNT7A TP63 CHSY1 ESCO2 GDF5
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