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.

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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

SOURCES: MESH OMIM ORPHANET

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


Potential gene panels for PTHLH gene

PTHLH. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PTHLH gene.

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

Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel Panel

Germany.

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 panel

Limb Malformation: Sequencing Panel Panel

United States.

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 panel

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

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

PTHLH Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PTHLH gene.

More info about this panel

Brachydactyly / Syndactyly Panel Panel

Finland.

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 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

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

Brachydactyly type E Panel

Spain.

By Bioarray

This panel specifically test the PTHLH gene.

More info about this panel

BRACHYDACTYLY TYPE E2 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the PTHLH gene.

More info about this panel

Brachydactyly Type E2, Sequencing PTHLH Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PTHLH gene.

More info about this panel

Brachydactyly , Panel Massive Sequencing (NGS) 18 Genes Panel

Spain.

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

More info about this panel


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