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X-linked agammaglobulinemia
2 OMIM references -
1 associated gene
33 signs/symptoms
PROTEIN INTERACTIONS: 1
Li-Fraumeni syndrome
3 OMIM references -
2 associated genes
16 signs/symptoms
X-linked agammaglobulinemia
Li-Fraumeni syndrome

BTK
(UniProt - OMIM)
 CHEK2
(UniProt - OMIM)
TP53
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
BTK
(0.52)
TP53


Citations in the biomedical literature:


X-linked agammaglobulinemia
BTK
Li-Fraumeni syndrome
CHEK2 TP53



X-linked agammaglobulinemia
Li-Fraumeni syndrome

Synonym(s):
- BTK-deficiency
- Bruton type agammaglobulinemia
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic 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: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
1 MeSH reference: C537409
External references:
3 OMIM references -
1 MeSH reference: D016864
X-linked agammaglobulinemia
Li-Fraumeni syndrome

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


Very frequent
- Acute leukemia
- Autosomal dominant inheritance
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Breast neoplasm / tumor / carcinoma / cancer
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Colon neoplasm / tumor / carcinoma / cancer
- Cortical adrenal neoplasm / tumor / carcinoma / cancer
- Lymphoma
- Neoplasms / tumors
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Sarcoma
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma

Occasional
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Melanoma
- Oropharyngeal neoplasm / tumor / carcinoma / cancer