ERGIC1 gene related symptoms and diseases

All the information presented here about the ERGIC1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ERGIC1 gene

Symptoms // Phenotype % Cases
Scoliosis Very Common - Between 80% and 100% cases
Abnormality of the lower limb Very Common - Between 80% and 100% cases
Rocker bottom foot Very Common - Between 80% and 100% cases
Hemiplegia/hemiparesis Very Common - Between 80% and 100% cases
Multiple joint contractures Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ERGIC1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormality of the hip bone
  • Aplasia/Hypoplasia of the radius
  • Maternal diabetes
  • Abnormality of the upper limb
  • Elbow flexion contracture
  • Intestinal atresia
  • Skin dimples
  • Abnormality of the shoulder

And 23 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ERGIC1 gene

Here you will find a list of rare diseases related to the ERGIC1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NEUROGENIC ARTHROGRYPOSIS MULTIPLEX CONGENITA


Alternate names

NEUROGENIC ARTHROGRYPOSIS MULTIPLEX CONGENITA Is also known as amc, neurogenic type

Description

Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.

Most common symptoms of NEUROGENIC ARTHROGRYPOSIS MULTIPLEX CONGENITA

  • Scoliosis
  • Micrognathia
  • Flexion contracture
  • Skeletal muscle atrophy
  • Talipes equinovarus


More info about NEUROGENIC ARTHROGRYPOSIS MULTIPLEX CONGENITA

SOURCES: OMIM ORPHANET


Potential gene panels for ERGIC1 gene

ERGIC1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ERGIC1 gene.

More info about this panel


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