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X-linked agammaglobulinemia
2 OMIM references -
1 associated gene
108 connected diseases
33 signs/symptoms
Disease Type of connection
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Precursor B-cell acute lymphoblastic leukemia
Autosomal agammaglobulinemia
Precursor T-cell acute lymphoblastic leukemia
Autoimmune lymphoproliferative syndrome
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
X-linked thrombocytopenia with normal platelets
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Williams syndrome
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
PLCG2-associated antibody deficiency and immune dysregulation
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Melanoma of soft part
Common variable immunodeficiency
Familial multiple nevi flammei
Sturge-Weber syndrome
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Intermediate nemaline myopathy
Severe congenital nemaline myopathy
Typical nemaline myopathy
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Complete androgen insensitivity syndrome
Familial hypospadias
Familial papillary renal cell carcinoma
Hepatocellular carcinoma, childhood-onset
Kennedy disease
Partial androgen insensitivity syndrome
Acute fatty liver of pregnancy
Autosomal dominant macrothrombocytopenia
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Dowling-Degos disease
Early-onset spastic ataxia-neuropathy syndrome
Ehlers-Danlos syndrome with periventricular heterotopia
Epidermolysis bullosa simplex with circinate migratory erythema
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Frontometaphyseal dysplasia
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Hereditary spherocytosis
Isolated ATP synthase deficiency
Isolated NADH-CoQ reductase deficiency
Leigh syndrome with leukodystrophy
Localized epidermolysis bullosa simplex
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Spinocerebellar ataxia type 28
Terminal osseous dysplasia - pigmentary defects
Translocation renal cell carcinoma
Autosomal recessive lymphoproliferative disease
Chronic myeloid leukemia
Lethal congenital contracture syndrome type 3
Pediatric systemic lupus erythematosus
Pyogenic bacterial infections due to MyD88 deficiency
Waldenström macroglobulinemia
Behçet disease
Quebec platelet disorder
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Acute myeloblastic leukemia with maturation
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Adrenocortical carcinoma
Aleukemic mast cell leukemia
Anaplastic ependymoma
B-cell chronic lymphocytic leukemia
Bullous diffuse cutaneous mastocytosis
Classic mast cell leukemia
Cutaneous mastocytoma
Essential thrombocythemia
Familial pancreatic carcinoma
Gastrointestinal stromal tumor
Giant cell glioblastoma
Gliosarcoma
Isolated bone marrow mastocytosis
Juvenile rheumatoid factor-negative polyarthritis
Li-Fraumeni syndrome
Lymphoadenopathic mastocytosis with eosinophilia
Nodular urticaria pigmentosa
Oligoarticular juvenile arthritis
Papilloma of choroid plexus
Piebaldism
Plaque-form urticaria pigmentosa
Pseudoxanthomatous diffuse cutaneous mastocytosis
Smouldering systemic mastocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Telangiectasia macularis eruptiva perstans
Typical urticaria pigmentosa
Synonym(s):
- BTK-deficiency
- Bruton type agammaglobulinemia
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
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
External references:
2 OMIM references -
1 MeSH reference: C537409
Gene symbol UniProt reference OMIM reference
BTK Q06187300300
Very frequent
- Acute diarrhea
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Anomalies of the lymphatic system
- Asthenia / fatigue / weakness
- 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
- Fever / chilling
- Furuncle / cutaneous abscess / hidrosadenitis suppurativa
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- 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
- Polynuclear cells / neutrophils anomalies / neutropenia
- Sepsis severe / septicemia

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