ODCs

Cytoscape Web

Click node...

Diffuse cutaneous systemic sclerosis

5 associated genes
31 signs/symptoms

PROTEIN INTERACTIONS: 1

Autosomal dominant popliteal pterygium syndrome

1 OMIM reference -
1 associated gene
26 signs/symptoms

Diffuse cutaneous systemic sclerosis

Autosomal dominant popliteal pterygium syndrome

CAV1	(UniProt - OMIM)		IRF6	(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)	IRF5	(0.72)	IRF6

Citations in the biomedical literature:

Diffuse cutaneous systemic sclerosis		Autosomal dominant popliteal pterygium syndrome
	Synonym(s): - Diffuse cutaneous systemic scleroderma - Progressive cutaneous systemic scleroderma - Progressive cutaneous systemic sclerosis		Synonym(s): - Facio-genito-popliteal syndrome - Popliteal web syndrome

	Classification (Orphanet): - Rare cardiac disease - Rare renal disease - Rare respiratory disease - Rare skin disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease

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

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

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

Diffuse cutaneous systemic sclerosis		Autosomal dominant popliteal pterygium syndrome
	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 - Respiratory distress / dyspnea / respiratory failure / lung volume reduction 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		Very frequent - Autosomal dominant inheritance - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Hirsutism / hypertrichosis / Increased body hair - Micrognathia / retrognathia / micrognathism / retrognathism - Restricted joint mobility / joint stiffness / ankylosis - Syndactyly of toes - Thin / retracted lips Frequent - Anomalies of the ribs - Bifid scrotum - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - Cryptophthalmia / ankyloblepharon / synblepharon - Dysplastic / thick / grooved toenails - Hypoplastic scrotum / hemiscrotum / scrotal ridges - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Lip pits / fistulae - Nails anomalies - Oral synechiae / abnormal frenulae - Popliteal web - Scoliosis - Syndactyly of fingers / interdigital palm - Talipes-varus / metatarsal varus - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Ambiguous genitalia - Choanal atresia - Intellectual deficit / mental / psychomotor retardation / learning disability - Oligodactyly / ectrodactyly of fingers