IMPAD1 gene related symptoms and diseases

All the information presented here about the IMPAD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to IMPAD1 gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
High forehead Very Common - Between 80% and 100% cases
Patellar dislocation Very Common - Between 80% and 100% cases
Carpal synostosis Very Common - Between 80% and 100% cases
Joint dislocation Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with IMPAD1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Short toe
  • Short metacarpal
  • Short foot
  • Flat face
  • Genu valgum
  • Proptosis
  • Hearing impairment
  • Narrow mouth

And 8 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to IMPAD1 gene

Here you will find a list of rare diseases related to the IMPAD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE


Alternate names

CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE Is also known as gpapp deficiency

Description

Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.

Most common symptoms of CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE

  • Short stature
  • Hearing impairment
  • Growth delay
  • Micrognathia
  • Abnormal facial shape


More info about CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE

SOURCES: ORPHANET OMIM


Potential gene panels for IMPAD1 gene

IMPAD1 - Chondrodysplasia with joint dislocations, gpapp type Panel

Switzerland.

By Centre of Molecular Diseases (CMM) CHUV

This panel specifically test the IMPAD1 gene.

More info about this panel

Craniosynostosis (NGS panel for 30 genes) Panel

Portugal.

By CGC Genetics Craniosynostosis (NGS panel for 30 genes) that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 IRX5 TMCO1

More info about this panel

Chondrodysplasia with joint dislocations, gPAPP type (sequence analysis of IMPAD1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the IMPAD1 gene.

More info about this panel

Chondrodysplasia with Joint Dislocations/Catel–Manzke Syndrome via IMPAD1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the IMPAD1 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

Desbuquois dysplasia and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Desbuquois dysplasia and related disorders Deletion / Duplication panel that also includes the following genes: SLC26A2 XYLT1 GZF1 B3GALT6 CHST3 CANT1 CSGALNACT1 IMPAD1 FLNB KIF22

More info about this panel

Desbuquois dysplasia and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Desbuquois dysplasia and related disorders NGS panel that also includes the following genes: SLC26A2 XYLT1 GZF1 B3GALT6 CHST3 CANT1 CSGALNACT1 IMPAD1 FLNB KIF22

More info about this panel

Desbuquois dysplasia and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Desbuquois dysplasia and related disorders Comprehensive panel that also includes the following genes: SLC26A2 XYLT1 GZF1 B3GALT6 CHST3 CANT1 CSGALNACT1 IMPAD1 FLNB KIF22

More info about this panel

Desbuquois dysplasia core Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Desbuquois dysplasia core Comprehensive panel that also includes the following genes: XYLT1 CANT1 CSGALNACT1 IMPAD1

More info about this panel

Desbuquois dysplasia core Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Desbuquois dysplasia core Deletion / Duplication panel that also includes the following genes: XYLT1 CANT1 CSGALNACT1 IMPAD1

More info about this panel

Desbuquois dysplasia core NGS panel Panel

United States.

By Connective Tissue Gene Tests Desbuquois dysplasia core NGS panel that also includes the following genes: XYLT1 CANT1 CSGALNACT1 IMPAD1

More info about this panel

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

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

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

Chondrodysplasia with joint dislocations, GPAPP type Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the IMPAD1 gene.

More info about this panel

Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel Panel

Germany.

By CeGaT GmbH Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel that also includes the following genes: RMRP SMARCAL1 ACP5 CCN6 XYLT1 RAB33B B3GALT6 TRPV4 CHST3 CANT1

More info about this panel

IMPAD1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IMPAD1 gene.

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

Larsen Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Larsen Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: CHST3 CANT1 IMPAD1 FLNB B3GAT3

More info about this panel

Chondrodysplasia Punctata , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Chondrodysplasia Punctata , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: IMPAD1 EBP AGPS GNPAT LBR ARSE PEX7

More info about this panel


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