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Dermatofibrosarcoma protuberans

1 OMIM reference -
2 associated genes
6 signs/symptoms

PROTEIN INTERACTIONS: 1

Temtamy syndrome

1 OMIM reference -
1 associated gene
26 signs/symptoms

Dermatofibrosarcoma protuberans

Temtamy syndrome

COL1A1	(UniProt - OMIM)		C12ORF57	(UniProt - OMIM)
PDGFB	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL1A1	(0.49)	C12ORF57

Citations in the biomedical literature:

Dermatofibrosarcoma protuberans		Temtamy syndrome
	Synonym(s): - DFSP		Synonym(s): - Craniofacial dysmorphism - coloboma - corpus callosum agenesis - Temtamy-Shalash syndrome

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

	External references: 1 OMIM reference - 1 MeSH reference: C538219		External references: 1 OMIM reference - 1 MeSH reference: C536959

Dermatofibrosarcoma protuberans		Temtamy syndrome
	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 - Autosomal recessive inheritance - Coloboma of iris - Corpus callosum / septum pellucidum total / partial agenesis - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Retinoschisis / retinal / chorioretinal coloboma - Short foot / brachydactyly of toes - Short hand / brachydactyly Frequent - Aortic dilatation / dilation - Beaked nose - Coarse face - Dolichocephaly / scaphocephaly - Flat foot - Genu varum - Long face - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Clinodactyly of fifth finger - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - High vaulted / narrow palate - Hyperextensible joints / articular hyperlaxity - Telecanthus / canthal dystopy - Thick lips