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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
16 signs/symptoms
Severe congenital nemaline myopathy
Atypical teratoid tumor

ACTA1 SMARCB1
KLHL40
KLHL41
NEB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA1
(0.63)
SMARCB1



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Atypical teratoid tumor
SMARCB1



Severe congenital nemaline myopathy
Atypical teratoid tumor

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Atypical teratoid tumor

Very frequent
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Nausea / vomiting / regurgitation / merycism / hyperemesis

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- Early death / lethality
- Facial pain / cephalalgia / migraine
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hydrocephaly
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Muscle weakness / flaccidity
- Restricted joint mobility / joint stiffness / ankylosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sleep and vigilance disorders

Occasional
- Acute palsy
- Cranial nerves palsy
- Intracranial / cerebral calcifications


Severe congenital nemaline myopathy

(no data available)