ODCs

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1 OMIM reference -
2 associated genes
6 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Dermatofibrosarcoma protuberans

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

COL1A1	(UniProt - OMIM)		COL2A1	(UniProt - OMIM)
PDGFB	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PDGFB	(0.68)	COL2A1

Citations in the biomedical literature:

Dermatofibrosarcoma protuberans		Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
	Synonym(s): - DFSP		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: variable Average age of death: adult Type of inheritance: sporadic		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C538219		External references: 1 OMIM reference - No MeSH references

Dermatofibrosarcoma protuberans
	Very frequent - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Subcutaneous nodules / lipomas / tumefaction / swelling - Thick skin / pachydermia / orange skin Frequent - Chronic skin infection / ulcerations / ulcers / cancrum
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
(no data available)