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1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
10 signs/symptoms
Proximal spinal muscular atrophy type 3
Papilloma of choroid plexus

NAIP TP53
SMN1
SMN2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SMN1
SMN2
(0.9)
(0.9)
TP53
TP53



Citations in the biomedical literature:


Proximal spinal muscular atrophy type 3
NAIP SMN1 SMN2
Papilloma of choroid plexus
TP53



Proximal spinal muscular atrophy type 3
Papilloma of choroid plexus

Synonym(s):
- Juvenile spinal muscular atrophy
- Kugelberg-Welander disease
- SMA type 3
- SMA-III
- SMA3

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):
- Neoplasms -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D020288

Papilloma of choroid plexus

Very frequent
- Autosomal recessive inheritance
- 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


Proximal spinal muscular atrophy type 3

(no data available)