ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
5 associated genes
18 signs/symptoms

PLCG2-associated antibody deficiency and immune dysregulation

Gastrointestinal stromal tumor


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PLCG2	(0.72)	KIT

Citations in the biomedical literature:

PLCG2-associated antibody deficiency and immune dysregulation		Gastrointestinal stromal tumor
	Synonym(s): - FACU - Familial atypical cold urticaria - Familial cold urticaria with common variable immunodeficiency - PLAID		Synonym(s): - GIST

	Classification (Orphanet): - Rare allergic disease - Rare genetic disease - Rare immune disease - Rare skin disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease - Rare oncologic disease

	Classification (ICD10): - Diseases of the skin and subcutaneous tissue -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal 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
PLCG2-associated antibody deficiency and immune dysregulation
(no data available)