FUZ gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to FUZ gene

Symptoms // Phenotype % Cases
Spina bifida Rare - less than 30% cases
Myelomeningocele Rare - less than 30% cases
Abnormality of cardiovascular system morphology Rare - less than 30% cases
Arnold-Chiari malformation Rare - less than 30% cases
Hydrocephalus Rare - less than 30% cases

Other less frequent symptoms and clinical features

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

  • Scoliosis
  • Generalized hypotonia
  • Muscular hypotonia
  • Nystagmus
  • Ataxia
  • Neural tube defect
  • Asymmetry of spinal facet joints
  • Craniorachischisis

And 57 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FUZ gene

Here you will find a list of rare diseases related to the FUZ. 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

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

ARNOLD-CHIARI MALFORMATION TYPE II


Alternate names

ARNOLD-CHIARI MALFORMATION TYPE II Is also known as cm2, arnold-chiari malformation, chiari malformation type ii, chiari malformation type 2, arnold-chiari malformation type 2

Description

Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.

Most common symptoms of ARNOLD-CHIARI MALFORMATION TYPE II

  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Spasticity


More info about ARNOLD-CHIARI MALFORMATION TYPE II

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 FUZ gene

Neural tube defect (sequence analysis of FUZ gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FUZ gene.

More info about this panel

Neural tube defect (sequence analysis of FUZ gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FUZ gene.

More info about this panel

FUZ Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FUZ 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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