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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: ORPHANET OMIM

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

SOURCES: MESH OMIM

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

SOURCES: OMIM ORPHANET

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


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

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

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

TBX4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TBX4 gene.

More info about this panel

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

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

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

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ITGA9 MLH1 HIP1 OTOG

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more