ODCs

Click node...

1 OMIM reference -
1 associated gene
18 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
6 signs/symptoms

Dyssegmental dysplasia, Silverman-Handmaker type

Dermatofibrosarcoma protuberans

HSPG2	(UniProt - OMIM)		COL1A1	(UniProt - OMIM)
			PDGFB	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HSPG2	(0.85)	PDGFB

Citations in the biomedical literature:

Dyssegmental dysplasia, Silverman-Handmaker type		Dermatofibrosarcoma protuberans
	Synonym(s): (no synonyms)		Synonym(s): - DFSP

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		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

Dyssegmental dysplasia, Silverman-Handmaker type		Dermatofibrosarcoma protuberans
	Very frequent - Abnormal vertebral size / shape - Autosomal recessive inheritance - Blue sclerae - Bowed diaphysis / diaphyses / long bones - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Frequent - Atrial septal defect / interauricular communication - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flattened nose - Inguinal / inguinoscrotal / crural hernia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Stillbirth / neonatal death - Umbilical hernia		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