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Familial melanoma

8 OMIM references -
6 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1

Triose phosphate-isomerase deficiency

1 OMIM reference -
1 associated gene
9 signs/symptoms

Familial melanoma

Triose phosphate-isomerase deficiency

CDK4	(UniProt - OMIM)		TPI1	(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	(0.63)	TPI1

Citations in the biomedical literature:

Familial melanoma		Triose phosphate-isomerase deficiency

	Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic disease - Rare neurologic disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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

Familial melanoma		Triose phosphate-isomerase deficiency
	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 - Functional anomalies of the nervous system - Hypotonia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy Frequent - Diaphragmatic hernia / defect / agenesis - Stillbirth / neonatal death Occasional - Cardiomyopathy / hypertrophic / dilated - Nerve conduction abnormality