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X-linked agammaglobulinemia
2 OMIM references -
1 associated gene
33 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
Gastrointestinal stromal tumor
1 OMIM reference -
5 associated genes
18 signs/symptoms
X-linked agammaglobulinemia
Gastrointestinal stromal tumor

BTK
(UniProt - OMIM)
 KIT
(UniProt - OMIM)
PDGFRA
(UniProt - OMIM)
SDHA
(UniProt - OMIM)
SDHB
(UniProt - OMIM)
SDHC
(UniProt - OMIM)

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


Citations in the biomedical literature:


X-linked agammaglobulinemia
BTK
Gastrointestinal stromal tumor
KIT PDGFRA SDHA SDHB SDHC



X-linked agammaglobulinemia
Gastrointestinal stromal tumor

Synonym(s):
- BTK-deficiency
- Bruton type agammaglobulinemia
Synonym(s):
- GIST
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic 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: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic
External references:
2 OMIM references -
1 MeSH reference: C537409
External references:
1 OMIM reference -
1 MeSH reference: D046152
COMMON
SIGNS 		- Anaemia
- Asthenia / fatigue / weakness
- Cutaneous rash
- Hepatitis / icterus / cholestasis

X-linked agammaglobulinemia
Gastrointestinal stromal tumor

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
- 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
- Autoimmunity / autoimmune reaction / autoantibodies
- Early death / lethality
- 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
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Sarcoma

Frequent
- Constipation
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Intestinal obstruction / ileus
- Intestinal perforation
- Nausea / vomiting / regurgitation / merycism / hyperemesis

Occasional
- Colon neoplasm / tumor / carcinoma / cancer
- Digestive neoplasm / tumor / carcinoma / cancer
- Esophageal neoplasm / tumor / carcinoma / cancer
- Irregular / in bands / reticular skin hyperpigmentation
- Rectum / rectal neoplasm / tumor / carcinoma / cancer
- Small bowel neoplasm / tumor / carcinoma / cancer