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Diffuse cutaneous systemic sclerosis
5 associated genes
31 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
Waldenström macroglobulinemia
2 OMIM references -
1 associated gene
44 signs/symptoms
Diffuse cutaneous systemic sclerosis
Waldenström macroglobulinemia

CAV1
(UniProt - OMIM)
 MYD88
(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
(0.81)
MYD88


Citations in the biomedical literature:


Diffuse cutaneous systemic sclerosis
CAV1 CCR6 CTGF HLA-DRB1 IRF5
Waldenström macroglobulinemia
MYD88



Diffuse cutaneous systemic sclerosis
Waldenström macroglobulinemia

Synonym(s):
- Diffuse cutaneous systemic scleroderma
- Progressive cutaneous systemic scleroderma
- Progressive cutaneous systemic sclerosis
Synonym(s):
- Lymphoplasmacytic immunocytoma
- Lymphoplasmacytic lymphoma
Classification (Orphanet):
- Rare cardiac disease
- Rare renal disease
- Rare respiratory disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Neoplasms -
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: adulthood
Average age of death: elderly
Type of inheritance: multigenic/multifactorial
External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D008258
COMMON
SIGNS 		- Heart / cardiac failure
- Lung / pulmonary infiltrates
- Malabsorption / chronic diarrhea / steatorrhea
- Renal failure
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Diffuse cutaneous systemic sclerosis
Waldenström macroglobulinemia

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
- 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
- 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
- Intestinal transit disorder
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Periarticular tissue anomaly / extraarticular calcifications
- Pulmonary hypertension


Very frequent
- Bone marrow / medullar infiltration
- Hematologic / blood / lymphatic cancer
- Monoclonal immunoglobulins / gammapathy / dysglobulinemia
- Myeloproliferative syndrome / chronic leukemia

Frequent
- Blood hyperviscosity / hypercoagulability
- Dizziness
- Gingivorrhagia / gingival bleeding
- Normocytic anemia
- Pallor
- Polynuclear cells / neutrophils anomalies / neutropenia

Occasional
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Anorexia
- Asthenia / fatigue / weakness
- Ataxia / incoordination / trouble of the equilibrium
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Cranial nerves palsy
- Cryoglobulinemia
- Cutis marmorata / marbled skin / livedo
- Edema of the legs / lower limbs
- Epistaxis / nose bleeding
- Facial pain / cephalalgia / migraine
- Fever / chilling
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hearing loss / hypoacusia / deafness
- Hepatomegaly / liver enlargement (excluding storage disease)
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Lymphadenopathy / polyadenopathies
- Motor deficit / trouble
- Obnubilation / coma / lethargia / desorientation
- Palpebral edema / periorbital edema
- Peripheral neuropathy
- Proptosis / exophthalmos
- Purpura / petichiae
- Retinal vascular anomalies / retinal telangiectasia
- Splenomegaly
- Transient cerebral ischemia / stroke
- Troubles of memory / amnesia / hypermnesia
- Urticaria
- Vascularitis / vasculitides / arteritis