TRIP13 gene related symptoms and diseases
All the information presented here about the TRIP13 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TRIP13 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Nephroblastoma | Very Common - Between 80% and 100% cases |
| Neoplasm | Very Common - Between 80% and 100% cases |
| Intellectual disability | Common - Between 50% and 80% cases |
| Growth delay | Common - Between 50% and 80% cases |
| Seizures | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with TRIP13 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Premature chromatid separation
- Microcephaly
- Global developmental delay
- Short stature
Not very common - Between 30% and 50% cases
- Atrioventricular canal defect
- Subvalvular aortic stenosis
- Intestinal polyposis
- Abnormality of the upper limb
And 101 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TRIP13 gene
Here you will find a list of rare diseases related to the TRIP13. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME
Alternate names
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome
Description
Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.
Most common symptoms of MOSAIC VARIEGATED ANEUPLOIDY SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME
NEPHROBLASTOMA
Alternate names
NEPHROBLASTOMA Is also known as wilms tumor, nephroblastoma, renal embryonic tumor
Description
Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.
Most common symptoms of NEPHROBLASTOMA
- Intellectual disability
- Neoplasm
- Hypertension
- Fever
- Renal insufficiency
More info about NEPHROBLASTOMA
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3; MVA3
Description
MVA3 is an autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay (summary by Yost et al., 2017).For a discussion of genetic heterogeneity of MVA, see MVA1 (OMIM ).
Most common symptoms of MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3; MVA3
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
- Growth delay
More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3; MVA3
SOURCES: OMIM
Search interest in TRIP13
Potential gene panels for TRIP13 gene
Cancer Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panel United States.
TRIP13 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TRIP13 gene.
More info about this panel United States.
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