PITX1 gene related symptoms and diseases

All the information presented here about the PITX1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PITX1 gene

Symptoms // Phenotype % Cases
Talipes equinovarus Uncommon - Between 30% and 50% cases
Brachydactyly Rare - less than 30% cases
Pes planus Rare - less than 30% cases
Cleft palate Rare - less than 30% cases
Low-set ears Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with PITX1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Depressed nasal bridge
  • Downslanted palpebral fissures
  • Hypoplasia of the corpus callosum
  • Polydactyly
  • Hip dysplasia
  • Talipes
  • Radially deviated wrists
  • Cardiomegaly

And 26 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PITX1 gene

Here you will find a list of rare diseases related to the PITX1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME


Alternate names

BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME Is also known as brachydactyly-joint dysplasia syndrome, liebenberg syndrome, brachydactyly with joint dysplasia, synostosis, carpal, with dysplastic elbow joints and brachydactyly

Description

Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.

Most common symptoms of BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME

  • Brachydactyly
  • Macrocephaly
  • Talipes equinovarus
  • Clinodactyly of the 5th finger
  • Camptodactyly


More info about BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME

SOURCES: OMIM MESH ORPHANET

CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF


Description

Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, {222600}). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).

Most common symptoms of CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF

  • Hypertelorism
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Downslanted palpebral fissures


More info about CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF

SOURCES: OMIM

FAMILIAL CLUBFOOT DUE TO 5Q31 MICRODELETION


Alternate names

FAMILIAL CLUBFOOT DUE TO 5Q31 MICRODELETION Is also known as hereditary clubfoot due to 5q31 microdeletion


More info about FAMILIAL CLUBFOOT DUE TO 5Q31 MICRODELETION

SOURCES: ORPHANET

FAMILIAL CLUBFOOT DUE TO PITX1 POINT MUTATION


Alternate names

FAMILIAL CLUBFOOT DUE TO PITX1 POINT MUTATION Is also known as hereditary clubfoot due to pitx1 point mutation


More info about FAMILIAL CLUBFOOT DUE TO PITX1 POINT MUTATION

SOURCES: ORPHANET

MIRROR-IMAGE POLYDACTYLY



More info about MIRROR-IMAGE POLYDACTYLY

SOURCES: ORPHANET


Potential gene panels for PITX1 gene

Congenital Contractures Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6

More info about this panel

PITX1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PITX1 gene.

More info about this panel

Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (sequence analysis of PITX1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PITX1 gene.

More info about this panel

Congenital Limb Malformation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15

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

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Club foot Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PITX1 gene.

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

PITX1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PITX1 gene.

More info about this panel

Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly Panel

Spain.

By Bioarray

This panel specifically test the PITX1 gene.

More info about this panel

Onychopatellar Syndrome , Panel Massive Sequencing (NGS) LMXB1, PITX1, TBX4 Genes Panel

Spain.

By Reference Laboratory Genetics Onychopatellar Syndrome , Panel Massive Sequencing (NGS) LMXB1, PITX1, TBX4 Genes that also includes the following genes: TBX4 LMX1B PITX1

More info about this panel


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