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Pseudohypoaldosteronism type 2E

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Familial melanoma

8 OMIM references -
6 associated genes
12 signs/symptoms

Pseudohypoaldosteronism type 2E

Familial melanoma

CUL3	(UniProt - OMIM)		CDK4	(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)	CUL3	(0.63)	CDK4

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Familial melanoma
	Synonym(s): - PHA2E		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Neoplasms -

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

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

Familial melanoma
	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
Pseudohypoaldosteronism type 2E
(no data available)