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.
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
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
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 FUZ
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 Portugal.
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 Portugal.
FUZ Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FUZ gene.
More info about this panel United States.
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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