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.
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
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
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
TOTAL SPINA BIFIDA APERTA
THORACOLUMBOSACRAL SPINA BIFIDA APERTA
LUMBOSACRAL SPINA BIFIDA APERTA
CERVICAL SPINA BIFIDA APERTA
CERVICOTHORACIC SPINA BIFIDA APERTA
UPPER THORACIC SPINA BIFIDA APERTA
TOTAL SPINA BIFIDA CYSTICA
THORACOLUMBOSACRAL SPINA BIFIDA CYSTICA
LUMBOSACRAL SPINA BIFIDA CYSTICA
CERVICAL SPINA BIFIDA CYSTICA
CERVICOTHORACIC SPINA BIFIDA CYSTICA
UPPER THORACIC SPINA BIFIDA CYSTICA
Search interest in TBXT
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 United States.
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