Disease #06943 (HAE6 (angioedema, hereditary, type 6), OMIM:619363)

Official abbreviation HAE6
Name angioedema, hereditary, type 6
OMIM ID 619363
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 4
Phenotype entries for this disease -
Associated with 1 gene KNG1
Associated tissues -
Disease features -
Remarks -


Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00361887 family PubMed: Loules 2020, Journal: Loules 2020 3-generation family, 4 carriers (4 males) The son of the proband had only one attack during his lifetime, he is carrier of KNG1 c.1720C>G variant, but not of the ACE c.1459C>T variant. M - Italy - - - - - HAE6 Proband and his son presenting with a classical HAE phenotype, whereas the second son experiencing a single attack following a viral infection KNG1 ACE, KNG1 2 3 Christian Drouet
00361888 - PubMed: Bork 2019 Journal: Bork 2019 - - no Germany - - - - - HAE6 Proband presenting with a HAE phenotype KNG1 KNG1 1 6 Christian Drouet
00361889 - Journal: Loules 2020 - - - - - - - - - HAE6 - KNG1 KNG1 1 1 Christian Drouet
00361890 - Journal: Loules 2020 - - - - - - - - - HAE6 - KNG1 KNG1 1 1 Christian Drouet
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