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1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
22 signs/symptoms
Papilloma of choroid plexus
Keratosis follicularis spinulosa decalvans

TP53 MBTPS2
SAT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TP53
(0.73)
SAT1



Citations in the biomedical literature:


Papilloma of choroid plexus
TP53
Keratosis follicularis spinulosa decalvans
MBTPS2 SAT1



Papilloma of choroid plexus
Keratosis follicularis spinulosa decalvans

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

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D020288
External references:
2 OMIM references -
1 MeSH reference: C536159

Papilloma of choroid plexus
Keratosis follicularis spinulosa decalvans

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


Very frequent
- Absent / decreased / thin eyebrows
- Alopecia
- Autosomal dominant inheritance
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Ichthyosis / ichthyosiform dermatitis
- Thick skin / pachydermia / orange skin
- X-linked recessive inheritance

Frequent
- Abnormal fingernails
- Anomalies of eyelids, eyelashes and lacrimal system
- Blepharitis / eyelid inflammation
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Corneal clouding / opacity / vascularisation
- Ectropion / entropion / eyelid eversion
- Myopia
- Retinal detachment

Occasional
- Dental staining anomaly / spotted teeth / erythrodontia
- Eczema
- Enamel anomaly
- Multiple caries