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4 OMIM references -
2 associated genes
50 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
9 associated genes
8 signs/symptoms
Wiskott-Aldrich syndrome
Juvenile rheumatoid factor-negative polyarthritis

WAS ANKRD55
WIPF1 CD247
FAS
IL2RA
IL2RB
PTPN2
PTPN22
STAT4
TYK2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WAS
(0.68)
PTPN22



Citations in the biomedical literature:


Wiskott-Aldrich syndrome
WAS WIPF1
Juvenile rheumatoid factor-negative polyarthritis
ANKRD55 CD247 FAS IL2RA IL2RB PTPN2
PTPN22 STAT4 TYK2



Wiskott-Aldrich syndrome
Juvenile rheumatoid factor-negative polyarthritis

Synonym(s):
- Eczema-thrombocytopenia-immunodeficiency syndrome
- WAS

Synonym(s):
- Polyarthritis without rheumatoid factor

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
- Rare immune disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare respiratory disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: -
Average age of death: normal
Type of inheritance: multigenic/multifactorial

External references:
4 OMIM references -
1 MeSH reference: D014923
External references:
No OMIM references
No MeSH references


COMMON
SIGNS
- Arthritis / synovitis / synovial proliferation
- Autoimmunity / autoimmune reaction / autoantibodies


Wiskott-Aldrich syndrome
Juvenile rheumatoid factor-negative polyarthritis

Very frequent
- Bruisability
- Chronic obstructive pulmonary disease / COPD / obstructive respiratory syndrome
- Chronic / relapsing otitis
- Fever / chilling
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Platelets shape anomalies
- Purpura / petichiae
- Repeat respiratory infections
- Thrombocytopenia / thrombopenia
- X-linked recessive inheritance

Frequent
- Anaemia
- Asthenia / fatigue / weakness
- Epistaxis / nose bleeding
- Gingivorrhagia / gingival bleeding
- Hematomas
- Hemolytic anemia
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Inflammatory intestinal disease
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcytic anemia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Occasional
- Cardiac rhythm disorder / arrhythmia
- Chronic skin infection / ulcerations / ulcers / cancrum
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Early death / lethality
- Encephalitis
- Hyperostosis
- Internal hemorrhage
- Intracranial / cerebral / meningeal hemorrhage
- Lung / pulmonary / alveolar hemorrhage / hematoma
- Lymphoma
- Meningitis / meningeal syndrome
- Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea
- Mucosal / cutaneous hemorrhage
- Myeloproliferative syndrome / chronic leukemia
- Neoplasms / tumors
- Peripheral neuropathy
- Platelets function anomaly
- Polynuclear cells / neutrophils anomalies / neutropenia
- Renal disease / nephropathy
- Renal glomerular defect / glomerulopathy
- Sepsis severe / septicemia
- Thoracic / chest pain
- Thymic aplasia / hypoplasia
- Urticaria
- Vascularitis / vasculitides / arteritis


Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Articular / joint pain / arthralgia
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Hydrarthrosis / articular / joint effusion
- Joint / articular deformation
- Restricted joint mobility / joint stiffness / ankylosis