eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hereditary angioedema |
| Comorbidity | C0019243|c1 inhibitor deficiency |
| Sentences | 13 |
| PubMedID- 20667125 | Participants at the 6th c1 inhibitor deficiency workshop, held in budapest in may 2009, were invited to a moderated discussion with the aim of forming a consensus approach to home therapy for patients with hae. |
| PubMedID- 22909164 | Background: hereditary angioedema (hae) owing to c1 inhibitor deficiency is an autosomal dominant disorder, characterized by recurrent, potentially life-threatening, localized attacks of tissue swelling. |
| PubMedID- 20859548 | hereditary angioedema, resulting from inherited partial c1 inhibitor deficiency, is a disabling condition characterized by intermittent episodes of bradykinin-mediated angioedema. |
| PubMedID- 23282866 | The c1 inhibitor deficiency in hae has been shown to result from mutations of the serping1 gene. |
| PubMedID- 23277880 | Here we report a 7-year-old girl who presented typical symptoms of hae with c1 inhibitor deficiency at age 4. to our knowledge, this is the first pediatric case of hae in korea. |
| PubMedID- 24054366 | hereditary angioedema with c1 inhibitor deficiency: clinical presentation and quality of life of 193 french patients. |
| 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. |
| PubMedID- 26154504 | hereditary angioedema with c1 inhibitor deficiency (c1-inh-hae) is characterized by relapsing, non-pruritic swelling in skin and submucosal tissue. |
| PubMedID- 25924832 | Background: attacks of hereditary angioedema with c1 inhibitor deficiency (c1-inh-hae) are commonly treated in the emergency department. |
| PubMedID- 25054967 | Context and objective: hereditary angioedema (hae) with c1 inhibitor deficiency manifests as recurrent episodes of edema involving the skin, upper respiratory tract and gastrointestinal tract. |
| PubMedID- 20804470 | Mutational spectrum and phenotypes in danish families with hereditary angioedema because of c1 inhibitor deficiency. |
| PubMedID- 23937903 | hereditary angioedema with c1 inhibitor deficiency: delay in diagnosis in europe. |
| PubMedID- 26429506 | hereditary angioedema with c1 inhibitor deficiency (c1-inh-hae) is the best characterized form of hereditary angioedema. |
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