VANGL1 gene related symptoms and diseases
All the information presented here about the VANGL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to VANGL1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Absence of the sacrum | Rare - less than 30% cases |
| Lipoma | Rare - less than 30% cases |
| Abnormality of cardiovascular system morphology | Rare - less than 30% cases |
| Joint stiffness | Rare - less than 30% cases |
| Anal atresia | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with VANGL1 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Spina bifida occulta
- Maternal diabetes
- Spina bifida
- Urinary incontinence
- Teratoma
- Clubbing of toes
- Cyclopia
- Mottled pigmentation
And 85 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to VANGL1 gene
Here you will find a list of rare diseases related to the VANGL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CAUDAL REGRESSION SEQUENCE
Alternate names
CAUDAL REGRESSION SEQUENCE Is also known as sacral agenesis syndrome, caudal dysplasia, sacral regression syndrome
Description
Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.
Most common symptoms of CAUDAL REGRESSION SEQUENCE
- Scoliosis
- Cryptorchidism
- Hypertension
- Talipes equinovarus
- Renal insufficiency
More info about CAUDAL REGRESSION SEQUENCE
SOURCES: ORPHANET
CRANIO-OSTEOARTHROPATHY
Alternate names
CRANIO-OSTEOARTHROPATHY Is also known as sdam, currarino idiopathic osteoarthropathy, currarino disease, reginato-schiapachasse syndrome
Description
Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.
Most common symptoms of CRANIO-OSTEOARTHROPATHY
- Ventricular septal defect
- Headache
- Patent ductus arteriosus
- Constipation
- Diabetes mellitus
More info about CRANIO-OSTEOARTHROPATHY
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 VANGL1
Potential gene panels for VANGL1 gene
NGS Epilepsy/Seizure Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel United States.
VANGL1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the VANGL1 gene.
More info about this panel Spain.
Caudal regression syndrome (sequence analysis of VANGL1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the VANGL1 gene.
More info about this panel Portugal.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Caudal regression syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the VANGL1 gene.
More info about this panel Austria.
Neural tube defects Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the VANGL1 gene.
More info about this panel Austria.
Caudal regression syndrome Panel
Slovakia.
By MedGene
This panel specifically test the VANGL1 gene.
More info about this panel Slovakia.
Neural tube defects Panel
Slovakia.
By MedGene
This panel specifically test the VANGL1 gene.
More info about this panel Slovakia.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel United States.
VANGL1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the VANGL1 gene.
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel United States.
Caudal regression syndrome Panel
Spain.
By Bioarray
This panel specifically test the VANGL1 gene.
More info about this panel Spain.
Caudal Regression Syndrome , Sequencing VANGL1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the VANGL1 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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