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8 OMIM references -
6 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Familial melanoma
Papilloma of choroid plexus

CDK4 TP53
CDKN2A
CDKN2B
CDKN2D
MC1R
TERT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDKN2A
(0.83)
TP53



Citations in the biomedical literature:


Familial melanoma
CDK4 CDKN2A CDKN2B CDKN2D MC1R TERT

Papilloma of choroid plexus
TP53



Familial melanoma
Papilloma of choroid plexus

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

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Neoplasms -

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

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

Familial melanoma
Papilloma of choroid plexus

Very frequent
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Melanoma

Frequent
- Anomalies of the lymphatic system
- Dry / squaly skin / exfoliation
- Excessive freckling
- Hair and scalp anomalies

Occasional
- Autosomal dominant inheritance
- Breast neoplasm / tumor / carcinoma / cancer
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Extrapyramidal syndrome
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Retinopathy


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