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X-linked agammaglobulinemia
2 OMIM references -
1 associated gene
33 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
Waldenström macroglobulinemia
2 OMIM references -
1 associated gene
44 signs/symptoms
X-linked agammaglobulinemia
Waldenström macroglobulinemia

BTK
(UniProt - OMIM)
 MYD88
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
BTK
(0.65)
MYD88


Citations in the biomedical literature:


X-linked agammaglobulinemia
BTK
Waldenström macroglobulinemia
MYD88



X-linked agammaglobulinemia
Waldenström macroglobulinemia

Synonym(s):
- BTK-deficiency
- Bruton type agammaglobulinemia
Synonym(s):
- Lymphoplasmacytic immunocytoma
- Lymphoplasmacytic lymphoma
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare hematologic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Neoplasms -
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: unknown
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: multigenic/multifactorial
External references:
2 OMIM references -
1 MeSH reference: C537409
External references:
2 OMIM references -
1 MeSH reference: D008258
COMMON
SIGNS 		- Asthenia / fatigue / weakness
- Fever / chilling
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Malabsorption / chronic diarrhea / steatorrhea
- Polynuclear cells / neutrophils anomalies / neutropenia

X-linked agammaglobulinemia
Waldenström macroglobulinemia

Very frequent
- Acute diarrhea
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Anomalies of the lymphatic system
- Chronic skin infection / ulcerations / ulcers / cancrum
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Chronic / relapsing otitis
- Cutaneous rash
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Furuncle / cutaneous abscess / hidrosadenitis suppurativa
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Repeat respiratory infections
- Short stature / dwarfism / nanism
- Tonsil anomaly / hypertrophy / adenoiditis
- X-linked recessive inheritance

Frequent
- Arthritis / synovitis / synovial proliferation
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity
- Meningitis / meningeal syndrome
- Sepsis severe / septicemia

Occasional
- Alopecia
- Anaemia
- Autoimmunity / autoimmune reaction / autoantibodies
- Early death / lethality
- Hepatitis / icterus / cholestasis
- Irregular / patchy skin hypopigmentation
- Osteomyelitis / osteitis / periostitis / spondylodisciitis
- Thrombocytopenia / thrombopenia
- Weight loss / loss of appetite / break in weight curve / general health alteration


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
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Occasional
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Anorexia
- 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
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hearing loss / hypoacusia / deafness
- Heart / cardiac failure
- Hepatomegaly / liver enlargement (excluding storage disease)
- Lung / pulmonary infiltrates
- Lymphadenopathy / polyadenopathies
- Motor deficit / trouble
- Obnubilation / coma / lethargia / desorientation
- Palpebral edema / periorbital edema
- Peripheral neuropathy
- Proptosis / exophthalmos
- Purpura / petichiae
- Renal failure
- Retinal vascular anomalies / retinal telangiectasia
- Splenomegaly
- Transient cerebral ischemia / stroke
- Troubles of memory / amnesia / hypermnesia
- Urticaria
- Vascularitis / vasculitides / arteritis