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Dermatofibrosarcoma protuberans

1 OMIM reference -
2 associated genes
6 signs/symptoms

PROTEIN INTERACTIONS: 1

Spondylocarpotarsal synostosis

1 OMIM reference -
1 associated gene
12 signs/symptoms

Dermatofibrosarcoma protuberans

Spondylocarpotarsal synostosis

COL1A1	(UniProt - OMIM)		FLNB	(UniProt - OMIM)
PDGFB	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL1A1	(0.63)	FLNB

Citations in the biomedical literature:

Dermatofibrosarcoma protuberans		Spondylocarpotarsal synostosis
	Synonym(s): - DFSP		Synonym(s): - Synspondylism

	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: <1 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal recessive

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

Dermatofibrosarcoma protuberans		Spondylocarpotarsal synostosis
	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 vertebral size / shape - Autosomal recessive inheritance - Carpal bones fusion / synostosis - Lordosis - Restricted joint mobility / joint stiffness / ankylosis - Short rib cage / thorax - Vertebral segmentation anomaly / hemivertebrae Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Conductive deafness / hearing loss - Pectus excavatum - Polycystic kidneys - Sensorineural deafness / hearing loss