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.

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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

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

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 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

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

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

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

Caudal regression syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the VANGL1 gene.

More info about this panel

Neural tube defects Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the VANGL1 gene.

More info about this panel

Caudal regression syndrome Panel

Slovakia.

By MedGene

This panel specifically test the VANGL1 gene.

More info about this panel

Neural tube defects Panel

Slovakia.

By MedGene

This panel specifically test the VANGL1 gene.

More info about this panel

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

VANGL1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the VANGL1 gene.

More info about this panel

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

Caudal regression syndrome Panel

Spain.

By Bioarray

This panel specifically test the VANGL1 gene.

More info about this panel

Caudal Regression Syndrome , Sequencing VANGL1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the VANGL1 gene.

More info about this panel

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


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