PedAM
Pediatric Disease Annotations & Medicines
| Disease | c1 inhibitor deficiency |
| Phenotype | C0019243|c1 inhibitor deficiency |
| Sentences | 5 |
| PubMedID- 26154504 | Hereditary angioedema with c1 inhibitor deficiency (c1-inh-hae) is a rare autosomal dominant disease with an uncertain prevalence estimated to be 1: 50 000 [1] and is caused by mutation in the serping1 gene. |
| PubMedID- 22409889 | On the other hand, it is more frequent that acquired c1 inhibitor deficiency (aae-c1-inh) presents in the older age [59], and it is characterized by massive activation of the classical complement pathway and accelerated catabolism of c1-inh due to lymphatic tissue neoplasms or autoimmune diseases. |
| PubMedID- 20667125 | The c1 inhibitor deficiency workshop was first held in 1999 in vizegrád, hungary and has been a biennial hungarian event since then. |
| PubMedID- 23282866 | The c1 inhibitor deficiency in hae has been shown to result from mutations of the serping1 gene. |
| PubMedID- 24467750 | The laboratory evaluation of the complement system (table 1) strongly suggests the diagnosis of angioedema due to c1 inhibitor deficiency in our patient. |
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