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Diffuse cutaneous systemic sclerosis
5 associated genes
31 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
TRAPS syndrome
1 OMIM reference -
1 associated gene
37 signs/symptoms
Diffuse cutaneous systemic sclerosis
TRAPS syndrome

CAV1
(UniProt - OMIM)
 TNFRSF1A
(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
(0.49)
TNFRSF1A


Citations in the biomedical literature:


Diffuse cutaneous systemic sclerosis
CAV1 CCR6 CTGF HLA-DRB1 IRF5
TRAPS syndrome
TNFRSF1A



Diffuse cutaneous systemic sclerosis
TRAPS syndrome

Synonym(s):
- Diffuse cutaneous systemic scleroderma
- Progressive cutaneous systemic scleroderma
- Progressive cutaneous systemic sclerosis
Synonym(s):
- Autosomal dominant periodic fever
- Familial hibernian fever
- TNF receptor 1 associated periodic syndrome
- Tumor necrosis factor receptor 1 associated periodic syndrome
Classification (Orphanet):
- Rare cardiac disease
- Rare renal disease
- Rare respiratory disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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
COMMON
SIGNS 		- Arthritis / synovitis / synovial proliferation
- Articular / joint pain / arthralgia
- Malabsorption / chronic diarrhea / steatorrhea
- Nausea / vomiting / regurgitation / merycism / hyperemesis

Diffuse cutaneous systemic sclerosis
TRAPS 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
- 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
- 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
- Periarticular tissue anomaly / extraarticular calcifications
- Pulmonary hypertension
- Renal failure


Very frequent
- Acute abdominal pain / colic
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Cutaneous rash
- Erysipela
- Fever / chilling
- Macules
- Myalgia / muscular pain
- Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion

Frequent
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Constipation
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hyperleukocytosis / leukocytosis
- Intestinal obstruction / ileus
- Lymphadenopathy / polyadenopathies
- Splenomegaly
- Testes inflammation / orchitis

Occasional
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Cranial nerves palsy
- Dizziness
- Ecchymoses
- Facial pain / cephalalgia / migraine
- Fasciitis
- Follicular / erythematous / edematous papules / milium
- Myocardium anomalies / myocarditis
- Myositis
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Peritonitis / peritoneal abscess
- Pharyngitis
- Psychic / behavioural troubles
- Sacroiliac joints anomalies
- Thoracic / chest pain
- Vascularitis / vasculitides / arteritis