DVL1 gene related symptoms and diseases
All the information presented here about the DVL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DVL1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short nose | Very Common - Between 80% and 100% cases |
| Severe short stature | Very Common - Between 80% and 100% cases |
| Gingival overgrowth | Very Common - Between 80% and 100% cases |
| Oligodontia | Very Common - Between 80% and 100% cases |
| Proptosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with DVL1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Midface retrusion
- Long philtrum
- Umbilical hernia
- Anteverted nares
- Frontal bossing
- Downslanted palpebral fissures
- Macrocephaly
- Wide nasal bridge
And 100 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DVL1 gene
Here you will find a list of rare diseases related to the DVL1. 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 2; DRS2
Description
Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).
Most common symptoms of ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2
- Short stature
- Hearing impairment
- Hypertelorism
- Micrognathia
- Sensorineural hearing impairment
More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2
SOURCES: OMIM
Search interest in DVL1
Potential gene panels for DVL1 gene
Robinow syndrome (sequence analysis of DVL1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the DVL1 gene.
More info about this panel Portugal.
Robinow syndrome (sequence analysis of DVL1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the DVL1 gene.
More info about this panel Portugal.
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.
Pulmonary diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Pulmonary diseases - panels that also includes the following genes: BMPR1B BMPR2 TBX4 CAV1 CAV3 NME8 ACVRL1 SARS2 CCNO DNAI2
More info about this panel Germany.
Mental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Robinow syndrome, autosomal dominant type 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DVL1 gene.
More info about this panel Germany.
DVL1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DVL1 gene.
More info about this panel United States.
Skeletal Dysplasias Core Panel Panel
Finland.
By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
More info about this panel Finland.
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel Finland.
Micromelic Dysplasia Panel Panel
Finland.
By Blueprint Genetics Micromelic Dysplasia Panel that also includes the following genes: ROR2 BMPR1B SHOX SOX9 TRIP11 TRPS1 WNT5A ADAMTS10 IFT122 ADAMTSL2
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
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.
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