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Childhood-onset nemaline myopathy
6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Atypical teratoid tumor
1 OMIM reference -
1 associated gene
16 signs/symptoms
Childhood-onset nemaline myopathy
Atypical teratoid tumor

ACTA1
(UniProt - OMIM)
 SMARCB1
(UniProt - OMIM)
KBTBD13
(UniProt - OMIM)
KLHL41
(UniProt - OMIM)
NEB
(UniProt - OMIM)
TPM2
(UniProt - OMIM)
TPM3
(UniProt - OMIM)

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


Citations in the biomedical literature:


Childhood-onset nemaline myopathy
ACTA1 KBTBD13 KLHL41 NEB TPM2 TPM3

Atypical teratoid tumor
SMARCB1



Childhood-onset nemaline myopathy
Atypical teratoid tumor

Synonym(s):
- Mild nemaline myopathy
Synonym(s):
(no synonyms)
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: childhood
Average age of death: -
Type of inheritance: autosomal dominant
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


Childhood-onset nemaline myopathy

(no data available)