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Hereditary angioedema type 2

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Name:
Hereditary angioedema type 2
Description:
Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
ORPHAcode:
100051
Synonyms:
HAE 2
HAE-II
Hereditary angioneurotic edema type 2
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
SERPING1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Angioedema (7 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    PLG 100.00 1 NM_000301.4
    F12 100.00 1 NM_000505.3
    SERPING1 100.00 1 NM_000062.3
    KNG1 100.00 1 NM_001102416.3
    ANGPT1 100.00 1 NM_001146.5
    HS3ST6 100.00 1 NM_001009606.4
    MYOF 100.00 1 NM_013451.4
  • Hereditary angioneurotic (2 genes) -UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    SERPING1
    F12