DVL3 gene related symptoms and diseases
All the information presented here about the DVL3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DVL3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Blue sclerae | Very Common - Between 80% and 100% cases |
| Wide nasal bridge | Very Common - Between 80% and 100% cases |
| Downturned corners of mouth | Very Common - Between 80% and 100% cases |
| Proptosis | Very Common - Between 80% and 100% cases |
| Upslanted palpebral fissure | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with DVL3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Long eyelashes
- Gingival overgrowth
- Midface retrusion
- Long philtrum
- Short nose
- Anteverted nares
- Frontal bossing
- Macrocephaly
And 85 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DVL3 gene
Here you will find a list of rare diseases related to the DVL3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL DOMINANT ROBINOW SYNDROME
Description
Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.
Most common symptoms of AUTOSOMAL DOMINANT ROBINOW SYNDROME
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Scoliosis
More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME
SOURCES: ORPHANET
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3
Description
The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by White et al., 2016).For a discussion of genetic heterogeneity in Robinow syndrome, see RRS (OMIM ).
Most common symptoms of ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3
- Short stature
- Hearing impairment
- Scoliosis
- Hypertelorism
- Micrognathia
More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3
SOURCES: OMIM
Search interest in DVL3
Potential gene panels for DVL3 gene
Robinow syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Robinow syndrome NGS panel that also includes the following genes: ROR2 WNT5A DVL1 DVL3
More info about this panel United States.
Robinow syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Robinow syndrome Comprehensive panel that also includes the following genes: ROR2 WNT5A NXN DVL1 DVL3 FZD2
More info about this panel United States.
Robinow syndrome Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Robinow syndrome Deletion / Duplication panel that also includes the following genes: ROR2 WNT5A NXN DVL1 DVL3 FZD2
More info about this panel United States.
DVL3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DVL3 gene.
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NRXN3 CSF2RB TUBGCP6 HBB STAC3 CFHR1 OPTN