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Diffuse cutaneous systemic sclerosis

5 associated genes
31 signs/symptoms

PROTEIN INTERACTIONS: 1

Watson syndrome

1 OMIM reference -
1 associated gene
29 signs/symptoms

Diffuse cutaneous systemic sclerosis

Watson syndrome

CAV1	(UniProt - OMIM)		NF1	(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)	CAV1	(0.63)	NF1

Citations in the biomedical literature:

Diffuse cutaneous systemic sclerosis		Watson syndrome
	Synonym(s): - Diffuse cutaneous systemic scleroderma - Progressive cutaneous systemic scleroderma - Progressive cutaneous systemic sclerosis		Synonym(s): - Pulmonic stenosis with 'cafe-au-lait' spots

	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 genetic disease - Rare skin disease - Rare surgical cardiac 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: unknown Average age onset: childhood Average age of death: - 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		Watson 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 - Broad forehead - Cafe-au-lait spot - Cutaneous neurofibromas / facial angiofibromas / Koenen tumors - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Excess nuchal skin without pterygium colli - Excessive freckling - Hypertelorism - Philtrum deeply grooved - Philtrum flat / large / featureless / absent cupidon bows - Ptosis - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Short neck - Short stature / dwarfism / nanism Frequent - Congenital cardiac anomaly / malformation / cardiopathy - Epicanthic folds - Hypospadias / epispadias / bent penis - Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability - Long / large ear - Pectus excavatum - Puffy eyelids - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Triangular face - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Hypotonia - Kyphosis - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia