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2 OMIM references -
1 associated gene
33 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 22
7 OMIM references -
8 associated genes
32 signs/symptoms
X-linked agammaglobulinemia
Autosomal agammaglobulinemia

BTK BLNK
CD79A
CD79B
IGHM
IGLL1
LRRC8A
PIK3R1
TCF3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BTK
BTK
(0.97)
(0.67)
BLNK
IGHM



Citations in the biomedical literature:


X-linked agammaglobulinemia
BTK
Autosomal agammaglobulinemia
BLNK CD79A CD79B IGHM IGLL1 LRRC8A
PIK3R1 TCF3



X-linked agammaglobulinemia
Autosomal agammaglobulinemia

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

Synonym(s):
- Agammaglobulinemia, non-Bruton type

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
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 -
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 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: C537409
External references:
7 OMIM references -
No MeSH references


COMMON
SIGNS
- Acute diarrhea
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Arthritis / synovitis / synovial proliferation
- Asthenia / fatigue / weakness
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Chronic skin infection / ulcerations / ulcers / cancrum
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Chronic / relapsing otitis
- Cutaneous rash
- Early death / lethality
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fever / chilling
- Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity
- Hepatitis / icterus / cholestasis
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Malabsorption / chronic diarrhea / steatorrhea
- Meningitis / meningeal syndrome
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Osteomyelitis / osteitis / periostitis / spondylodisciitis
- Polynuclear cells / neutrophils anomalies / neutropenia
- Repeat respiratory infections
- Sepsis severe / septicemia


X-linked agammaglobulinemia
Autosomal agammaglobulinemia

Very frequent
- Anomalies of the lymphatic system
- Furuncle / cutaneous abscess / hidrosadenitis suppurativa
- Short stature / dwarfism / nanism
- Tonsil anomaly / hypertrophy / adenoiditis
- X-linked recessive inheritance

Occasional
- Alopecia
- Anaemia
- Autoimmunity / autoimmune reaction / autoantibodies
- Irregular / patchy skin hypopigmentation
- Thrombocytopenia / thrombopenia
- Weight loss / loss of appetite / break in weight curve / general health alteration


Very frequent
- Autosomal recessive inheritance
- Cough

Frequent
- Autosomal dominant inheritance

Occasional
- Bronchial dilation / dilatation / bronchiectasia
- Dehydration / hydroelectrolytic loss
- Epicanthic folds
- External ear anomalies
- High vaulted / narrow palate
- Hypertelorism
- Warts / papillomas