ODCs

Click node...

1 OMIM reference -
2 associated genes
6 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
16 signs/symptoms

Dermatofibrosarcoma protuberans

Generalized dominant dystrophic epidermolysis bullosa

COL1A1	(UniProt - OMIM)		COL7A1	(UniProt - OMIM)
PDGFB	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL1A1	(0.75)	COL7A1

Citations in the biomedical literature:

Dermatofibrosarcoma protuberans		Generalized dominant dystrophic epidermolysis bullosa
	Synonym(s): - DFSP		Synonym(s): - Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types - DDEB, Pasini and Cockayne-Touraine types - DDEB, generalized - DDEB-gen

	Classification (Orphanet): - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin 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: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

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

Dermatofibrosarcoma protuberans		Generalized dominant dystrophic epidermolysis bullosa
	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		Very frequent - Abnormal fingernails - Abnormal toenails - Autosomal dominant inheritance - Oral mucosa disease / cheilitis - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Abnormal scarring / cheloids / hypertrophic scars - Irregular / patchy skin hypopigmentation - Multiple caries - Skin hypoplasia / aplasia / atrophy Occasional - Anaemia - Corneal ulceration / perforation - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Follicular / erythematous / edematous papules / milium - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Tracheo-esophageal fistula / esophageal atresia / stenosis - Urethral anomalies / stenosis / posterior urethral valves / megalocystis