ODCs

Cytoscape Web

Click node...

Dyssegmental dysplasia, Silverman-Handmaker type

1 OMIM reference -
1 associated gene
18 signs/symptoms

PROTEIN INTERACTIONS: 1

Limited cutaneous systemic sclerosis

6 associated genes
19 signs/symptoms

Dyssegmental dysplasia, Silverman-Handmaker type

Limited cutaneous systemic sclerosis

HSPG2	(UniProt - OMIM)		CAV1	(UniProt - OMIM)
			CCR6	(UniProt - OMIM)
			CTGF	(UniProt - OMIM)
			HLA-DRB1	(UniProt - OMIM)
			IRF5	(UniProt - OMIM)
			KIAA0319L	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HSPG2	(0.52)	CTGF

Citations in the biomedical literature:

Dyssegmental dysplasia, Silverman-Handmaker type		Limited cutaneous systemic sclerosis
	Synonym(s): (no synonyms)		Synonym(s): - Limited cutaneous systemic scleroderma

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare cardiac disease - Rare renal disease - Rare respiratory disease - Rare skin disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: adult Type of inheritance: sporadic

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

Dyssegmental dysplasia, Silverman-Handmaker type		Limited cutaneous systemic sclerosis
	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 - Abnormal pigmentary skin changes / skin pigmentation anomalies - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Anomalies of skin, subcutaneous tissue and mucosae - Autoimmunity / autoimmune reaction / autoantibodies - Dermal / subcutaneous infiltration / induration - Dry / squaly skin / exfoliation - Irregular / patchy skin hypopigmentation Frequent - Chronic skin infection / ulcerations / ulcers / cancrum - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Nausea / vomiting / regurgitation / merycism / hyperemesis - Periarticular tissue anomaly / extraarticular calcifications - Telangiectasiae of mucosae - Telangiectasiae of the skin Occasional - Claw hand / retracted fingers - Claw toes / retracted toes - Lung fibrosis - Musculo-tendinous retractions - Pulmonary hypertension