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1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
1 OMIM reference -
1 associated gene
13 signs/symptoms
Papilloma of choroid plexus
Hereditary sensory and autonomic neuropathy with spastic paraplegia

TP53 CCT5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TP53
(0.87)
CCT5



Citations in the biomedical literature:


Papilloma of choroid plexus
TP53
Hereditary sensory and autonomic neuropathy with spastic paraplegia
CCT5



Papilloma of choroid plexus
Hereditary sensory and autonomic neuropathy with spastic paraplegia

Synonym(s):
(no synonyms)

Synonym(s):
- HSAN with spastic paraplegia

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: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

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


COMMON
SIGNS
- Autosomal recessive inheritance
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness


Papilloma of choroid plexus
Hereditary sensory and autonomic neuropathy with spastic paraplegia

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

Occasional
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mild visual loss / impaired visual acuity
- Neoplasms / tumors
- Seizures / epilepsy / absences / spasms / status epilepticus


Very frequent
- Abnormal gait
- Auto-aggressivity / auto-mutilation
- Chronic skin infection / ulcerations / ulcers / cancrum
- Dysautonomia / autonomous nervous sytem anomalies
- Hypereflexia
- Insensitivity to pain
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Peripheral neuropathy

Frequent
- Nerve conduction abnormality

Occasional
- Osteomyelitis / osteitis / periostitis / spondylodisciitis