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.
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
Search interest in MYOD1
Potential gene panels for MYOD1 gene
MYOD1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MYOD1 gene.
More info about this panelTempus xO assay Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like BCL6 RMND1 MAF ABHD12 NEXMIF CLIC2 GATA1