ODCs

Click node...

1 OMIM reference -
3 associated genes
29 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 2

1 OMIM reference -
2 associated genes
6 signs/symptoms

Ehlers-Danlos syndrome type 1

Dermatofibrosarcoma protuberans


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL1A1 COL5A1	(0.81) (0.68)	PDGFB PDGFB

Citations in the biomedical literature:

Ehlers-Danlos syndrome type 1		Dermatofibrosarcoma protuberans
	Synonym(s): - EDS I		Synonym(s): - DFSP

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease - Rare skin disease - Rare surgical thoracic disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare genetic disease - Rare oncologic disease - Rare skin disease

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: variable Average age of death: adult Type of inheritance: sporadic

	External references: 1 OMIM reference - 1 MeSH reference: C536194		External references: 1 OMIM reference - 1 MeSH reference: C538219

Ehlers-Danlos syndrome type 1		Dermatofibrosarcoma protuberans
	Very frequent - Autosomal dominant inheritance - Hyperextensible joints / articular hyperlaxity - Joint dislocation / subluxation - Skin hypoplasia / aplasia / atrophy - Thin skin Frequent - Aortic dilatation / dilation - Bruisability - Diaphragmatic hernia / defect / agenesis - Flat foot - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Genu recurvatum - Hallux valgus - Herniae - Inguinal / inguinoscrotal / crural hernia - Pectus carinatum - Pectus excavatum - Scoliosis - Umbilical hernia - Varices / varicous veins / venous insufficiency Occasional - Aortic dissection - Bladder / vesical diverticulum - Cardiac valvulopathy - Chronic arterial hypertension - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Oral synechiae / abnormal frenulae - Peritonitis / peritoneal abscess - Recurrent urinary infections - Retinal detachment - Skin tumors / lumps / epidermal cysts		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