1. Mendelian
  2. Rare Disease Genes
  3. DDRGK1

DDRGK1 gene related symptoms and diseases

All the information presented here about the DDRGK1 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.

Table of contents:

Top 5 symptoms and clinical features associated to DDRGK1 gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Flat acetabular roof Very Common - Between 80% and 100% cases
Metaphyseal widening Very Common - Between 80% and 100% cases
Metaphyseal irregularity Very Common - Between 80% and 100% cases
Flared metaphysis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DDRGK1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Short femoral neck
  • Thoracic hypoplasia
  • Short thorax
  • Disproportionate short stature
  • Bell-shaped thorax
  • Delayed epiphyseal ossification
  • Vertebral compression fractures
  • Coxa vara

And 37 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to DDRGK1 gene

Here you will find a list of rare diseases related to the DDRGK1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE

Alternate names

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE Is also known as semd, shohat type

Description

Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.

Most common symptoms of SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE

  • Short stature
  • Scoliosis
  • Pain
  • Depressed nasal bridge
  • Hepatomegaly


More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE

SOURCES: MESH OMIM ORPHANET


Potential gene panels for DDRGK1 gene

DDRGK1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DDRGK1 gene.

More info about this panel
United States.

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