VANGL2 gene related symptoms and diseases
All the information presented here about the VANGL2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to VANGL2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Spina bifida | Rare - less than 30% cases |
| Hydrocephalus | Rare - less than 30% cases |
| Abnormality of cardiovascular system morphology | Rare - less than 30% cases |
| Anencephaly | Rare - less than 30% cases |
| Neural tube defect | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with VANGL2 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Multiple lipomas
- Urinary incontinence
- Abnormal vertebral morphology
- Hypocalcemia
- Spina bifida occulta
- Hypertelorism
- Lipoma
- Myelomeningocele
And 20 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to VANGL2 gene
Here you will find a list of rare diseases related to the VANGL2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ISOLATED ANENCEPHALY/EXENCEPHALY
Description
Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.
Most common symptoms of ISOLATED ANENCEPHALY/EXENCEPHALY
- Hypertelorism
- Cleft palate
- Talipes equinovarus
- Hydrocephalus
- Abnormality of cardiovascular system morphology
More info about ISOLATED ANENCEPHALY/EXENCEPHALY
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
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 VANGL2
Potential gene panels for VANGL2 gene
Neural tube defect (sequence analysis of VANGL2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the VANGL2 gene.
More info about this panel Portugal.
Neural tube defect (sequence analysis of VANGL2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the VANGL2 gene.
More info about this panel Portugal.
Spina bifida Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the VANGL2 gene.
More info about this panel Austria.
Spina bifida Panel
Slovakia.
By MedGene
This panel specifically test the VANGL2 gene.
More info about this panel Slovakia.
VANGL2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the VANGL2 gene.
More info about this panel United States.
VANGL2, full sequencing Panel
Spain.
By Bioarray
This panel specifically test the VANGL2 gene.
More info about this panel Spain.
Neural Tube Defects and Related Disorders , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Neural Tube Defects and Related Disorders , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: VANGL2 VANGL1 MMACHC FUZ MTHFD1 MTHFR MTR MTRR
More info about this panel Spain.
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