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.

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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

SOURCES: OMIM ORPHANET

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


Potential gene panels for MAP3K20 gene

ZAK Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MAP3K20 gene.

More info about this panel


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