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Papilloma of choroid plexus
1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Congenital fiber-type disproportion myopathy
2 OMIM references -
7 associated genes
8 signs/symptoms
Papilloma of choroid plexus
Congenital fiber-type disproportion myopathy

TP53
(UniProt - OMIM)
 ACTA1
(UniProt - OMIM)
ITGA7
(UniProt - OMIM)
MYL2
(UniProt - OMIM)
PTPLA
(UniProt - OMIM)
SEPN1
(UniProt - OMIM)
TPM2
(UniProt - OMIM)
TPM3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TP53
(0.52)
ACTA1


Citations in the biomedical literature:


Papilloma of choroid plexus
TP53
Congenital fiber-type disproportion myopathy
ACTA1 ITGA7 MYL2 PTPLA SEPN1 TPM2
TPM3



Papilloma of choroid plexus
Congenital fiber-type disproportion myopathy

Synonym(s):
(no synonyms)

Synonym(s):
- CFTDM
Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D020288
External references:
2 OMIM references -
No MeSH references
COMMON
SIGNS 		- Autosomal recessive inheritance

Papilloma of choroid plexus
Congenital fiber-type disproportion myopathy

Very frequent
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Hydrocephaly
- Structural anomalies of the nervous system

Occasional
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mild visual loss / impaired visual acuity
- Neoplasms / tumors
- Seizures / epilepsy / absences / spasms / status epilepticus


Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Areflexia / hyporeflexia
- Hypotonia
- Myopathy

Frequent
- Pectus excavatum
- Repeat respiratory infections
- Scoliosis