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.
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
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
Search interest in PITX1
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 United States.
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 Spain.
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 Portugal.
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 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.
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 Germany.
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 Germany.
Club foot Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PITX1 gene.
More info about this panel Germany.
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 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.
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.
PITX1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PITX1 gene.
More info about this panel United States.
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 Spain.
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 Spain.
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