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2 OMIM references -
1 associated gene
33 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 17
4 OMIM references -
2 associated genes
50 signs/symptoms
X-linked agammaglobulinemia
Wiskott-Aldrich syndrome

BTK WAS
WIPF1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BTK
(0.95)
WAS



Citations in the biomedical literature:


X-linked agammaglobulinemia
BTK
Wiskott-Aldrich syndrome
WAS WIPF1



X-linked agammaglobulinemia
Wiskott-Aldrich syndrome

Synonym(s):
- BTK-deficiency
- Bruton type agammaglobulinemia

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

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

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

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: sporadic
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

External references:
2 OMIM references -
1 MeSH reference: C537409
External references:
4 OMIM references -
1 MeSH reference: D014923


COMMON
SIGNS
- Anaemia
- Arthritis / synovitis / synovial proliferation
- Asthenia / fatigue / weakness
- Autoimmunity / autoimmune reaction / autoantibodies
- Chronic skin infection / ulcerations / ulcers / cancrum
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Chronic / relapsing otitis
- Early death / lethality
- Fever / chilling
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Meningitis / meningeal syndrome
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Polynuclear cells / neutrophils anomalies / neutropenia
- Repeat respiratory infections
- Sepsis severe / septicemia
- Thrombocytopenia / thrombopenia
- X-linked recessive inheritance


X-linked agammaglobulinemia
Wiskott-Aldrich syndrome

Very frequent
- Acute diarrhea
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Anomalies of the lymphatic system
- Cutaneous rash
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Furuncle / cutaneous abscess / hidrosadenitis suppurativa
- Short stature / dwarfism / nanism
- Tonsil anomaly / hypertrophy / adenoiditis

Frequent
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity

Occasional
- Alopecia
- Hepatitis / icterus / cholestasis
- Irregular / patchy skin hypopigmentation
- Malabsorption / chronic diarrhea / steatorrhea
- Osteomyelitis / osteitis / periostitis / spondylodisciitis
- Weight loss / loss of appetite / break in weight curve / general health alteration


Very frequent
- Bruisability
- Chronic obstructive pulmonary disease / COPD / obstructive respiratory syndrome
- Platelets shape anomalies
- Purpura / petichiae

Frequent
- 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
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Encephalitis
- Hyperostosis
- Internal hemorrhage
- Intracranial / cerebral / meningeal hemorrhage
- Lung / pulmonary / alveolar hemorrhage / hematoma
- Lymphoma
- Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea
- Mucosal / cutaneous hemorrhage
- Myeloproliferative syndrome / chronic leukemia
- Neoplasms / tumors
- Peripheral neuropathy
- Platelets function anomaly
- Renal disease / nephropathy
- Renal glomerular defect / glomerulopathy
- Thoracic / chest pain
- Thymic aplasia / hypoplasia
- Urticaria
- Vascularitis / vasculitides / arteritis