TBX4 gene related symptoms and diseases
All the information presented here about the TBX4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TBX4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Abnormality of epiphysis morphology | Common - Between 50% and 80% cases |
| Hip dysplasia | Common - Between 50% and 80% cases |
| Short stature | Common - Between 50% and 80% cases |
| Abnormality of the skeletal system | Uncommon - Between 30% and 50% cases |
| Aplasia/Hypoplasia of the patella | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with TBX4 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Talipes equinovarus
- Pulmonary arterial hypertension
- Patellar hypoplasia
- Hypertension
- Abnormal facial shape
- Scoliosis
- Pes planus
- Sandal gap
And 78 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TBX4 gene
Here you will find a list of rare diseases related to the TBX4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
17Q23.1Q23.2 MICRODELETION SYNDROME
Alternate names
17Q23.1Q23.2 MICRODELETION SYNDROME Is also known as 17q23.1-q23.2 microdeletion syndrome, del(17)(q23.1q23.2), monosomy 17q23.1q23.2, monosomy 17q23.1-q23.2
Description
17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
Most common symptoms of 17Q23.1Q23.2 MICRODELETION SYNDROME
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
- Scoliosis
More info about 17Q23.1Q23.2 MICRODELETION SYNDROME
COXOPODOPATELLAR SYNDROME
Alternate names
COXOPODOPATELLAR SYNDROME Is also known as scott-taor syndrome, sps, small patella syndrome, ischiopatellar dysplasia
Description
Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.
Most common symptoms of COXOPODOPATELLAR SYNDROME
- Hip dysplasia
- Abnormality of epiphysis morphology
- Abnormality of pelvic girdle bone morphology
- Abnormality of the knee
- Aplasia/Hypoplasia of the patella
More info about COXOPODOPATELLAR SYNDROME
SOURCES: ORPHANET
ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS
Alternate names
ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS Is also known as scott-taor syndrome, sps, ischiopatellar dysplasia, patella aplasia, coxa vara, and tarsal synostosis, small patella syndrome, coxopodopatellar syndrome
Most common symptoms of ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS
- Short stature
- Scoliosis
- Micrognathia
- Abnormal facial shape
- Cleft palate
More info about ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS
FAMILIAL CLUBFOOT DUE TO 17Q23.1Q23.2 MICRODUPLICATION
Alternate names
FAMILIAL CLUBFOOT DUE TO 17Q23.1Q23.2 MICRODUPLICATION Is also known as hereditary clubfoot due to 17q23.1-q23.2 microduplication
Description
17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.
Most common symptoms of FAMILIAL CLUBFOOT DUE TO 17Q23.1Q23.2 MICRODUPLICATION
- Short stature
- Abnormality of the skeletal system
- Talipes equinovarus
- Genu valgum
- Hip dysplasia
More info about FAMILIAL CLUBFOOT DUE TO 17Q23.1Q23.2 MICRODUPLICATION
HERITABLE PULMONARY ARTERIAL HYPERTENSION
Alternate names
HERITABLE PULMONARY ARTERIAL HYPERTENSION Is also known as hpah, hereditary pulmonary arterial hypertension, familial pulmonary arterial hypertension, fpah
Description
Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.
More info about HERITABLE PULMONARY ARTERIAL HYPERTENSION
SOURCES: ORPHANET
Search interest in TBX4
Potential gene panels for TBX4 gene
Small Patella Syndrome via TBX4 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the TBX4 gene.
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.
Pulmonary diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Pulmonary diseases - panels that also includes the following genes: BMPR1B BMPR2 TBX4 CAV1 CAV3 NME8 ACVRL1 SARS2 CCNO DNAI2
More info about this panel Germany.
TBX4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TBX4 gene.
More info about this panel United States.
Pulmonary Artery Hypertension (PAH) Panel Panel
Finland.
By Blueprint Genetics Pulmonary Artery Hypertension (PAH) Panel that also includes the following genes: BMPR2 TBX4 CAV1 NFU1 ACVRL1 EIF2AK4 ENG FOXF1 KCNA5 KCNK3
More info about this panel Finland.
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 Finland.
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 Finland.
PULMONARY HYPERTENSION, NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL PULMONARY HYPERTENSION, NGS PANEL that also includes the following genes: BMPR1B BMPR2 TBX4 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5
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.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ERCC3 CNNM2 KMT2B USF1