ODCs

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Dyssegmental dysplasia, Silverman-Handmaker type

1 OMIM reference -
1 associated gene
18 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Diffuse cutaneous systemic sclerosis

5 associated genes
31 signs/symptoms

Dyssegmental dysplasia, Silverman-Handmaker type

Diffuse cutaneous systemic sclerosis

HSPG2	(UniProt - OMIM)	CAV1	(UniProt - OMIM)
		CCR6	(UniProt - OMIM)
		CTGF	(UniProt - OMIM)
		HLA-DRB1	(UniProt - OMIM)
		IRF5	(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		Diffuse cutaneous systemic sclerosis
	Synonym(s): (no synonyms)		Synonym(s): - Diffuse cutaneous systemic scleroderma - Progressive cutaneous systemic scleroderma - Progressive cutaneous systemic sclerosis

	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


COMMON SIGNS	- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Dyssegmental dysplasia, Silverman-Handmaker type		Diffuse 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 - Stillbirth / neonatal death - Umbilical hernia		Very frequent - 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 - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Lung / pulmonary infiltrates - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Radiologic lung abnormalities / changes Frequent - Arthritis / synovitis / synovial proliferation - Articular / joint pain / arthralgia - Chronic skin infection / ulcerations / ulcers / cancrum - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Dyspareunia / coital pain / vaginal dryness - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Lung fibrosis - Malabsorption / chronic diarrhea / steatorrhea - Mouth dryness / xerostomia - Multiple caries - Muscle weakness / flaccidity - Osteolysis / osteoclasia / bone destruction / erosions - Telangiectasiae of the skin - Tendon rupture / tendinitis / bursitis / tenosynovitis Occasional - Acute arterial hypertension / hypertensive crisis - Heart / cardiac failure - Intestinal transit disorder - Nausea / vomiting / regurgitation / merycism / hyperemesis - Periarticular tissue anomaly / extraarticular calcifications - Pulmonary hypertension - Renal failure