ODCs

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Familial melanoma

8 OMIM references -
6 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Developmental malformations - deafness - dystonia

1 OMIM reference -
1 associated gene
22 signs/symptoms

Familial melanoma

Developmental malformations - deafness - dystonia

CDK4	(UniProt - OMIM)	ACTB	(UniProt - OMIM)
CDKN2A	(UniProt - OMIM)
CDKN2B	(UniProt - OMIM)
CDKN2D	(UniProt - OMIM)
MC1R	(UniProt - OMIM)
TERT	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CDKN2A	(0.68)	ACTB

Citations in the biomedical literature:

Familial melanoma		Developmental malformations - deafness - dystonia

	Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: unknown

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


COMMON SIGNS	- Autosomal dominant inheritance

Familial melanoma		Developmental malformations - deafness - dystonia
	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 - Breast neoplasm / tumor / carcinoma / cancer - Estomach / gastric neoplasm / tumor / carcinoma / cancer - Extrapyramidal syndrome - Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer - Retinopathy		Very frequent - Cleft lip and palate - Dystonia / torticollis / writer's cramp / blepharospasms - Early death in adulthood - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Functional colopathy / irritable bowel syndrome - High forehead - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Kyphosis - Macroglossia / tongue protrusion / proeminent / hypertrophic - Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia - Psychic / psychomotor regression / dementia / intellectual decline - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Scoliosis - Sensorineural deafness / hearing loss - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Frequent - Cataract / lens opacification - Visual loss / blindness / amblyopia