1. Mendelian
  2. Rare Disease Genes
  3. DDX59

DDX59 gene related symptoms and diseases

All the information presented here about the DDX59 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to DDX59 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Postaxial polydactyly Very Common - Between 80% and 100% cases
Postaxial foot polydactyly Very Common - Between 80% and 100% cases
Median cleft lip Very Common - Between 80% and 100% cases
Horseshoe kidney Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DDX59 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Aganglionic megacolon
  • Postaxial hand polydactyly
  • Bifid uvula
  • Cleft upper lip
  • Scoliosis
  • Polydactyly
  • Agenesis of corpus callosum
  • Abnormal heart morphology

And 5 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to DDX59 gene

Here you will find a list of rare diseases related to the DDX59. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


OROFACIODIGITAL SYNDROME TYPE 5

Alternate names

OROFACIODIGITAL SYNDROME TYPE 5 Is also known as polydactyly postaxial with median cleft of upper lip, oral-facial-digital syndrome type 5, polydactyly, postaxial, with median cleft of upper lip, oral-facial-digital syndrome, type v, thurston syndrome, ofd5, orofaciodigital syndrome, thurston type, ofds v

Description

Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).

Most common symptoms of OROFACIODIGITAL SYNDROME TYPE 5

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Frontal bossing


More info about OROFACIODIGITAL SYNDROME TYPE 5

SOURCES: ORPHANET MESH OMIM


Potential gene panels for DDX59 gene

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel
United States.

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel
Germany.

DDX59 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DDX59 gene.

More info about this panel
United States.

Ciliopathy Panel Panel

Finland.

By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237

More info about this panel
Finland.

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