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Bethlem myopathy

1 OMIM reference -
3 associated genes
7 signs/symptoms

PROTEIN INTERACTIONS: 1

Dermatofibrosarcoma protuberans

1 OMIM reference -
2 associated genes
6 signs/symptoms

Bethlem myopathy

Dermatofibrosarcoma protuberans

COL6A1	(UniProt - OMIM)		COL1A1	(UniProt - OMIM)
COL6A2	(UniProt - OMIM)		PDGFB	(UniProt - OMIM)
COL6A3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL6A1	(0.68)	PDGFB

Citations in the biomedical literature:

Bethlem myopathy		Dermatofibrosarcoma protuberans
	Synonym(s): - Benign autosomal dominant myopathy		Synonym(s): - DFSP

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal 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: C535436		External references: 1 OMIM reference - 1 MeSH reference: C538219

Bethlem myopathy		Dermatofibrosarcoma protuberans
	Very frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Autosomal dominant inheritance - Camptodactyly of fingers - Myopathy - Restricted joint mobility / joint stiffness / ankylosis - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy		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