TBXT gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to TBXT gene

Symptoms // Phenotype % Cases
Absence of the sacrum Rare - less than 30% cases
Abnormal vertebral morphology Rare - less than 30% cases
Neoplasm Rare - less than 30% cases
Multiple lipomas Rare - less than 30% cases
Renal agenesis Rare - less than 30% cases

Other less frequent symptoms and clinical features

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

  • Anal atresia
  • Asymmetry of spinal facet joints
  • Craniorachischisis
  • Neural tube defect
  • Abnormality of the thymus
  • Spinal dysraphism
  • Myelomeningocele
  • Lipoma

And 15 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 TBXT gene

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


CHORDOMA


Alternate names

CHORDOMA Is also known as notochordal sarcoma

Description

Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.

Most common symptoms of CHORDOMA

  • Neoplasm
  • Headache
  • Diplopia
  • Abnormality of the vertebral column
  • Abnormality of the head


More info about CHORDOMA

SOURCES: ORPHANET OMIM

NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO; NTD


Description

Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (OMIM ) (Detrait et al., 2005). Spina bifida occulta (SBO), a bony defect of the spine covered by normal skin, is a mild form of spina bifida that is often asymptomatic. The term 'spinal dysraphia' refers to both SBC and SBO (Botto et al., 1999; Fineman et al., 1982). The most severe neural tube defect, craniorachischisis (CRN), leaves the neural tube open from the midbrain or rostral hindbrain to the base of the spine (summary by Robinson et al., 2012).Neural tube defects represent a complex trait with multifactorial etiology encompassing both genetic and environmental components (summary by Bartsch et al., 2012 and Lei et al., 2014).An X-linked form of spina bifida has been suggested; see {301410}. See also folate-sensitive neural tube defects (OMIM ), which are caused by genes involved in folate metabolism.

Most common symptoms of NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO; NTD

  • Hydrocephalus
  • Abnormality of cardiovascular system morphology
  • Abnormal heart morphology
  • Cleft lip
  • Urinary incontinence


More info about NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO; NTD

SOURCES: OMIM ORPHANET

SACRAL AGENESIS-ABNORMAL OSSIFICATION OF THE VERTEBRAL BODIES-PERSISTENT NOTOCHORDAL CANAL SYNDROME


Description

Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency.

Most common symptoms of SACRAL AGENESIS-ABNORMAL OSSIFICATION OF THE VERTEBRAL BODIES-PERSISTENT NOTOCHORDAL CANAL SYNDROME

  • Anal atresia
  • Renal agenesis
  • Abnormal vertebral morphology
  • Absence of the sacrum
  • Persistent cloaca


More info about SACRAL AGENESIS-ABNORMAL OSSIFICATION OF THE VERTEBRAL BODIES-PERSISTENT NOTOCHORDAL CANAL SYNDROME

SOURCES: OMIM ORPHANET

TOTAL SPINA BIFIDA APERTA



More info about TOTAL SPINA BIFIDA APERTA

SOURCES: ORPHANET

THORACOLUMBOSACRAL SPINA BIFIDA APERTA



More info about THORACOLUMBOSACRAL SPINA BIFIDA APERTA

SOURCES: ORPHANET

LUMBOSACRAL SPINA BIFIDA APERTA



More info about LUMBOSACRAL SPINA BIFIDA APERTA

SOURCES: ORPHANET

CERVICAL SPINA BIFIDA APERTA



More info about CERVICAL SPINA BIFIDA APERTA

SOURCES: ORPHANET

CERVICOTHORACIC SPINA BIFIDA APERTA



More info about CERVICOTHORACIC SPINA BIFIDA APERTA

SOURCES: ORPHANET

UPPER THORACIC SPINA BIFIDA APERTA



More info about UPPER THORACIC SPINA BIFIDA APERTA

SOURCES: ORPHANET

TOTAL SPINA BIFIDA CYSTICA



More info about TOTAL SPINA BIFIDA CYSTICA

SOURCES: ORPHANET

THORACOLUMBOSACRAL SPINA BIFIDA CYSTICA



More info about THORACOLUMBOSACRAL SPINA BIFIDA CYSTICA

SOURCES: ORPHANET

LUMBOSACRAL SPINA BIFIDA CYSTICA



More info about LUMBOSACRAL SPINA BIFIDA CYSTICA

SOURCES: ORPHANET

CERVICAL SPINA BIFIDA CYSTICA



More info about CERVICAL SPINA BIFIDA CYSTICA

SOURCES: ORPHANET

CERVICOTHORACIC SPINA BIFIDA CYSTICA



More info about CERVICOTHORACIC SPINA BIFIDA CYSTICA

SOURCES: ORPHANET

UPPER THORACIC SPINA BIFIDA CYSTICA



More info about UPPER THORACIC SPINA BIFIDA CYSTICA

SOURCES: ORPHANET


Potential gene panels for TBXT gene

T Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TBXT gene.

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 PRKG2 SMCHD1 STX1B PRKG1 LAMB2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more