ODCs

Click node...

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
6 signs/symptoms

Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures

Dermatofibrosarcoma protuberans

COL4A1	(UniProt - OMIM)		COL1A1	(UniProt - OMIM)
			PDGFB	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL4A1	(0.68)	PDGFB

Citations in the biomedical literature:

Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures		Dermatofibrosarcoma protuberans
	Synonym(s): - HANAC syndrome - Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome		Synonym(s): - DFSP

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare renal disease		Classification (Orphanet): - Rare genetic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Diseases of the eye and adnexa -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available 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 - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538219

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
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
(no data available)