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Erythropoietic protoporphyria

2 OMIM references -
2 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1

Well-differentiated liposarcoma

3 associated genes
4 signs/symptoms

Erythropoietic protoporphyria

Well-differentiated liposarcoma

ALAS2	(UniProt - OMIM)		CDK4	(UniProt - OMIM)
FECH	(UniProt - OMIM)		HMGA2	(UniProt - OMIM)
			MDM2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FECH	(0.63)	MDM2

Citations in the biomedical literature:

Erythropoietic protoporphyria		Well-differentiated liposarcoma
	Synonym(s): - EPP - XLDPP		Synonym(s): - ALT - Atypical lipoma - Atypical lipomatous tumor - WDLS

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare renal disease - Rare skin disease		Classification (Orphanet): - Rare oncologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: adult Type of inheritance: sporadic

	External references: 2 OMIM references - 1 MeSH reference: D046351		External references: No OMIM references No MeSH references

Erythropoietic protoporphyria		Well-differentiated liposarcoma
	Very frequent - Autosomal dominant inheritance - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Skin photosensitivity - Urticaria Occasional - Biliary / gallbladder stones / lithiasis / cholecystitis - Cirrhosis - Cutaneous edema - Eczema - Microcytic anemia		Very frequent - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Subcutaneous nodules / lipomas / tumefaction / swelling Occasional - Functional anomalies of the kidney and the urinary tract - Intestinal transit disorder