WWOX gene related symptoms and diseases

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

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to WWOX gene

Symptoms // Phenotype	% Cases
Global developmental delay	Uncommon - Between 30% and 50% cases
Microcephaly	Uncommon - Between 30% and 50% cases
Seizures	Uncommon - Between 30% and 50% cases
Spasticity	Uncommon - Between 30% and 50% cases
Intellectual disability	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with WWOX gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Generalized tonic-clonic seizures
Epileptic encephalopathy
Muscular hypotonia of the trunk
Encephalopathy
Generalized hypotonia
Chest pain
Lymphadenopathy
Cough

And 101 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to WWOX gene

Here you will find a list of rare diseases related to the WWOX. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO WWOX DEFICIENCY

Alternate names

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO WWOX DEFICIENCY Is also known as scar12, autosomal recessive spinocerebellar ataxia type 12, spinocerebellar ataxia with mental retardation and epilepsy

Description

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.

Most common symptoms of AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO WWOX DEFICIENCY

Intellectual disability
Seizures
Global developmental delay
Microcephaly
Ataxia

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO WWOX DEFICIENCY

SOURCES: ORPHANET OMIM

ESOPHAGEAL CANCER

Description

Esophageal cancer, particularly esophageal squamous cell carcinoma (ESCC), is one of the most common cancers worldwide. Both environmental and genetic risk factors play a role in the pathogenesis of the disorder. In Europe and North America, heavy smoking, alcohol consumption, and increased body mass index (BMI) are the main environmental risk factors. In contrast, the particularly high incidence of ESCC in some areas of China, central Asia, and southern Africa is associated with nutritional deficiencies, high intake of nitrosamine-rich or pickled vegetables, and low socioeconomic status; smoking, alcohol consumption, and BMI play a lesser role in these populations. There is a tendency for familial aggregation of ESCC in high-risk geographic areas, suggesting a genetic component to increased susceptibility. Gastric cardia adenocarcinoma is another common type of cancer in China that shows similarities to ESCC in terms of geographic distribution and environmental risk factors (summary by Wang et al., 2010 and Abnet et al., 2010). Genetic Heterogeneity of Susceptibility to Esophageal CancerSee a variant in the ADH1B gene ({103720.0001}) for discussion of a possible genetic association with protection against squamous cell aerodigestive tract cancer, including esophageal cancer, in alcohol drinkers. See a variant in the ALDH2 gene ({100650.0001}) for discussion of a possible genetic association with increased risk for esophageal cancer in alcohol drinkers due to interaction between variants in the ADH1B and ALDH2 genes.See the S100A14 gene (OMIM ) on chromosome 1q21 for a discussion of a possible association between variation in that gene and susceptibility to esophageal squamous cell carcinoma among smokers. Genetic Heterogeneity of Somatic Mutations in Esophageal CancerSomatic mutations in several different genes have been found in esophageal cancer tissue. These genes include TP53 (OMIM ), CDKN2A (OMIM ), DEC1 (OMIM ), DCC (OMIM ), DLEC1 (OMIM ), TGFBR2 (OMIM ), LZTS1 (OMIM ), RNF6 (OMIM ), WWOX (OMIM ), APC (OMIM ), and RUNX3 (OMIM ).

Most common symptoms of ESOPHAGEAL CANCER

Neoplasm
Dysphagia
Obesity
Weight loss
Gastroesophageal reflux

More info about ESOPHAGEAL CANCER

SOURCES: ORPHANET OMIM

UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

Alternate names

UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee

Most common symptoms of UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly

More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

SOURCES: OMIM ORPHANET

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28

Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28

Seizures
Global developmental delay
Generalized hypotonia
Microcephaly
Growth delay

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28

SOURCES: OMIM

46,XY PARTIAL GONADAL DYSGENESIS

Alternate names

46,XY PARTIAL GONADAL DYSGENESIS Is also known as 46,xy partial testicular dysgenesis, 46,xy pgd

Description

46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.

Most common symptoms of 46,XY PARTIAL GONADAL DYSGENESIS

Cryptorchidism
Abnormality of cardiovascular system morphology
Hypospadias
Delayed skeletal maturation
Osteoporosis

More info about 46,XY PARTIAL GONADAL DYSGENESIS

SOURCES: ORPHANET

SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS

Alternate names

SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS Is also known as escc, esophageal epidermoid carcinoma, esophageal squamous cell carcinoma

Description

Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC; see this term) that can affect any part of the esophagus, but is usually located in the upper or middle third.

Most common symptoms of SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS

Feeding difficulties in infancy
Cough
Nausea and vomiting
Lymphadenopathy
Chest pain

More info about SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS

SOURCES: ORPHANET

Search interest in WWOX

Potential gene panels for WWOX gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

WWOX gene related symptoms and diseases

Top 5 symptoms and clinical features associated to WWOX gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to WWOX gene

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO WWOX DEFICIENCY

Alternate names

Description

Most common symptoms of AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO WWOX DEFICIENCY

ESOPHAGEAL CANCER

Description

Most common symptoms of ESOPHAGEAL CANCER

UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

Alternate names

Most common symptoms of UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28

Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28

46,XY PARTIAL GONADAL DYSGENESIS

Alternate names

Description

Most common symptoms of 46,XY PARTIAL GONADAL DYSGENESIS

SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS

Alternate names

Description

Most common symptoms of SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS

Search interest in WWOX

Potential gene panels for WWOX gene

MitoMet®Plus aCGH Analysis Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel

Early Infantile Epileptic Encephalopathy Panel Panel

Microcephaly Sequencing Panel Panel

Microcephaly Deletion/Duplication Panel Panel

Ataxia Exome Panel Panel

CHOP Epilepsy Panel Panel

Early infantile epileptic encephalopathy (NGS panel for 26 genes) Panel

Epileptic encephalopathy (NGS panel for 67 genes) Panel

Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

Spinocerebellar Ataxia-12 via WWOX Gene Sequencing with CNV Detection Panel

Female Infertility Sequencing Panel with CNV Detection Panel

Male Infertility Sequencing Panel with CNV Detection Panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Ambiguous Genitalia Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

Neurogenetic Disorders - panels Panel

Spinocerebellar ataxia type 12, autosomal recessive Panel

Early infantile epileptic encephalopathy type 28 Panel

AllNeuro panel Panel

Nuclear encoded Mitochondriopathies Panel Panel

Ataxia and differential diagnoses Panel Panel

Ataxia, autosomal recessive and X-linked Panel Panel

Spinocerebellar Ataxia Panel

Epilepsy Panel

Invitae Epilepsy Panel Panel

Invitae Early Infantile Epileptic Encephalopathy Panel Panel

Epileptic encephalopathies Panel

Nuclear-Mito NGS Panel Panel

Early-Onset Epileptic Encephalopathy NGS Panel Panel

Comprehensive Epilepsy NGS Panel Panel

WWOX Panel

Ataxia Panel Panel

Epileptic Encephalopathy Panel Panel

Comprehensive Epilepsy Panel Panel

SPINOCEREBELLAR ATAXIA NGS PANEL Panel