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Hereditary Angioedema

Hereditary Angioedema Deep Research Fallback

⚠️ Fallback MONDO:0019623

Hereditary Angioedema Deep Research Fallback

Provider Attempts

  • falcon: timeout --foreground 120s just research-disorder falcon Hereditary_Angioedema produced no usable content and was terminated with signal 15.
  • openai: timeout --foreground 120s just research-disorder openai Hereditary_Angioedema produced no usable content and was terminated with signal 15.

Because the preferred deep-research providers did not return usable content in bounded attempts, this fallback records the literature scope used for curation. All YAML evidence was taken from generated Orphanet and PubMed reference caches, not from hand-created reference text.

Structured Source Scope

Hereditary angioedema corresponds to MONDO:0019623 and Orphanet ORPHA:91378. ORPHA:91378 is an Orphanet clinical-group record and was not emitted by the current structured Orphanet cache builder, which caches generated leaf disease and subtype records. The curation therefore used generated caches for ORPHA:528623 hereditary angioedema with C1Inh deficiency, ORPHA:528647 hereditary angioedema with normal C1Inh, and subtype records ORPHA:100050, ORPHA:100051, ORPHA:100054, ORPHA:537072, and ORPHA:599418.

ORPHA:528647 currently lists obsolete MONDO:0033947 as its cross-reference. Local MONDO resolves the active replacement as MONDO:0100567 hereditary angioedema with normal C1Inh, and the YAML uses that active term.

Literature Scope

Clinical definition, inheritance, genetic heterogeneity, diagnostic testing, and pathophysiology were anchored with contemporary review, guideline, consensus, and prevalence papers: PMID:36609679, PMID:35442579, PMID:35006617, PMID:40053270, and PMID:39827848. These sources support autosomal dominant classic HAE, SERPING1-related type 1 and type 2 disease, normal-C1-INH genetic subdivision, C1-INH/C4 laboratory testing, excess bradykinin production, increased vascular permeability, and worldwide rarity.

Treatment evidence was anchored to human clinical trials or extensions: PMID:28328347 for subcutaneous C1 inhibitor prophylaxis, PMID:20818888 for icatibant acute attack therapy, PMID:21481442 for ecallantide acute attack therapy, PMID:40886933 for oral sebetralstat attack therapy, PMID:30480729 for lanadelumab prophylaxis, PMID:33866032 for berotralstat prophylaxis, and PMID:41767175 for donidalorsen long-term prophylaxis.

Curation Decisions

  • Used MONDO:0019623 as the disease term and modeled the major clinical and etiologic branches as subtypes.
  • Included active subtype terms for C1-INH deficiency, type 1, type 2, normal-C1-INH HAE, F12-related HAE, PLG-related HAE, and the non-F12/non-PLG normal-C1-INH subtype group.
  • Recorded ORPHA frequent and very frequent phenotype rows from ORPHA:528623 and ORPHA:528647, but did not retain contradictory urticaria rows from the HAE type 1 subtype table because the disease-level records define HAE attacks as occurring without urticaria and mark urticaria as excluded.
  • Recorded decreased C4 and decreased C1 inhibitor concentration as C1-INH-deficiency-specific findings because ORPHA:528647 excludes decreased C4 in normal-C1-INH HAE.
  • Did not bind a C1 inhibitor therapeutic agent in the treatment section: the available local NCIT C1 inhibitor term validates as a protein/gene product but not as a pharmacologic-substance descendant for the therapeutic_agent slot. The same NCIT term is retained in the pathophysiology gene-product descriptor, where it validates.