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.

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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


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

Robinow syndrome (sequence analysis of DVL1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the DVL1 gene.

More info about this panel

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

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

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

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

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

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

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

DVL1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DVL1 gene.

More info about this panel

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

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

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

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

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


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