MAP3K20 gene related symptoms and diseases
All the information presented here about the MAP3K20 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MAP3K20 gene
Symptoms // Phenotype | % Cases |
---|---|
Motor delay | Common - Between 50% and 80% cases |
Scapular winging | Common - Between 50% and 80% cases |
Hyperlordosis | Common - Between 50% and 80% cases |
Calf muscle hypertrophy | Common - Between 50% and 80% cases |
Waddling gait | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with MAP3K20 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Myopathy
Not very common - Between 30% and 50% cases
- Mesoaxial polydactyly
- Split foot
- Cutaneous syndactyly
- Bilateral sensorineural hearing impairment
- Intellectual disability
- Scoliosis
- Polydactyly
And 57 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MAP3K20 gene
Here you will find a list of rare diseases related to the MAP3K20. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY
Alternate names
CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY Is also known as cftdm
Description
Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of life.
Most common symptoms of CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY
- Intellectual disability
- Short stature
- Failure to thrive
- Micrognathia
- Muscular hypotonia
More info about CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY
SOURCES: ORPHANET
SPLIT-FOOT MALFORMATION-MESOAXIAL POLYDACTYLY SYNDROME
Alternate names
SPLIT-FOOT MALFORMATION-MESOAXIAL POLYDACTYLY SYNDROME Is also known as split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome, sfmmp
Most common symptoms of SPLIT-FOOT MALFORMATION-MESOAXIAL POLYDACTYLY SYNDROME
- Hearing impairment
- Sensorineural hearing impairment
- Syndactyly
- Polydactyly
- Bilateral sensorineural hearing impairment
More info about SPLIT-FOOT MALFORMATION-MESOAXIAL POLYDACTYLY SYNDROME
MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION; CNM6
Description
CNM6 is an autosomal recessive, slowly progressive congenital myopathy with onset in infancy or early childhood. Patients may be hypotonic at birth, but all show delayed motor development and walking difficulties due to muscle weakness mainly affecting the proximal lower and upper limbs. Other features include scapular winging, scoliosis, and mildly decreased respiratory vital capacity. The phenotype and muscle biopsy abnormalities are variable, although centralized nuclei and fiber-type disproportion appear to be a common finding on muscle biopsy.For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).
Most common symptoms of MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION; CNM6
- Generalized hypotonia
- Scoliosis
- Muscle weakness
- Flexion contracture
- Motor delay
More info about MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION; CNM6
SOURCES: OMIM
Search interest in MAP3K20
Potential gene panels for MAP3K20 gene
ZAK Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MAP3K20 gene.
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 CRB1 AXL CLCN1 MAGED2 UVSSA MT-CYB GPAA1