1. Mendelian
  2. Rare Disease Genes
  3. MYOD1

MYOD1 gene related symptoms and diseases

All the information presented here about the MYOD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to MYOD1 gene

Symptoms // Phenotype % Cases
Scoliosis Very Common - Between 80% and 100% cases
Multiple joint contractures Very Common - Between 80% and 100% cases
Absent septum pellucidum Very Common - Between 80% and 100% cases
Slender long bone Very Common - Between 80% and 100% cases
Cystic hygroma Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MYOD1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Hypokinesia
  • Generalized amyotrophy
  • Thoracic hypoplasia
  • Rocker bottom foot
  • Fatigable weakness
  • Akinesia
  • Congenital contracture
  • Pterygium

And 61 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to MYOD1 gene

Here you will find a list of rare diseases related to the MYOD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FETAL AKINESIA DEFORMATION SEQUENCE

Alternate names

FETAL AKINESIA DEFORMATION SEQUENCE Is also known as arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome, arthrogryposis multiplex congenita with pulmonary hypoplasia, fads, pena-shokeir syndrome type 1, fetal akinesia sequence, pena-shokeir syndrome, type i

Description

The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

Most common symptoms of FETAL AKINESIA DEFORMATION SEQUENCE

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


More info about FETAL AKINESIA DEFORMATION SEQUENCE

SOURCES: OMIM ORPHANET


Potential gene panels for MYOD1 gene

MYOD1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MYOD1 gene.

More info about this panel
United States.

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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