Biomaterial Database

Newly found C1 inhibitor gene mutation in hereditary angioedema patients. 2009

Rui Tang, and Hong-yu Zhang

Department of Allergy, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.

UI	MeSH Term	Description	Entries
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D050718	Complement C1 Inhibitor Protein	An endogenous 105-kDa plasma glycoprotein produced primarily by the LIVER and MONOCYTES. It inhibits a broad spectrum of proteases, including the COMPLEMENT C1R and the COMPLEMENT C1S proteases of the CLASSICAL COMPLEMENT PATHWAY, and the MANNOSE-BINDING PROTEIN-ASSOCIATED SERINE PROTEASES. C1-INH-deficient individuals suffer from HEREDITARY ANGIOEDEMA TYPES I AND II.	C1 Esterase Inhibitor,C1-INH Protein,C1-Inhibitor Protein,Complement C1-Inhibitor Protein,Plasma Protease C1 Inhibitor,SERPING1,Serpin Family G Member 1,Serpin G1,C1 INH Protein,C1 Inhibitor Protein,Esterase Inhibitor, C1
D054179	Angioedemas, Hereditary	Inherited disorders that are characterized by subcutaneous and submucosal EDEMA in the upper RESPIRATORY TRACT and GASTROINTESTINAL TRACT.	Angioedema, Hereditary,Angioneurotic Edema, Hereditary,C1 Esterase Inhibitor Deficiency,C1 Inhibitor Deficiency,Hereditary Angioedema,Hereditary Angioedemas,Hereditary Angioneurotic Edema,Angioneurotic Edemas, Hereditary,Edema, Hereditary Angioneurotic,Edemas, Hereditary Angioneurotic,Hereditary Angioneurotic Edemas