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Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Gastrointestinal stromal tumor
1 OMIM reference -
5 associated genes
18 signs/symptoms
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Gastrointestinal stromal tumor

PLCG2
(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)
PLCG2
(0.72)
KIT


Citations in the biomedical literature:


Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
PLCG2
Gastrointestinal stromal tumor
KIT PDGFRA SDHA SDHB SDHC



Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Gastrointestinal stromal tumor

Synonym(s):
- aPLAID
Synonym(s):
- GIST
Classification (Orphanet):
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D046152
Gastrointestinal stromal tumor

Very frequent
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Sarcoma

Frequent
- Asthenia / fatigue / weakness
- 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
- Anaemia
- Colon neoplasm / tumor / carcinoma / cancer
- Cutaneous rash
- Digestive neoplasm / tumor / carcinoma / cancer
- Esophageal neoplasm / tumor / carcinoma / cancer
- Hepatitis / icterus / cholestasis
- Irregular / in bands / reticular skin hyperpigmentation
- Rectum / rectal neoplasm / tumor / carcinoma / cancer
- Small bowel neoplasm / tumor / carcinoma / cancer


Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation

(no data available)