Disease #07157 (HAE7 (angioedema, hereditary, type 7), OMIM:619366)

Official abbreviation HAE7
Name angioedema, hereditary, type 7
OMIM ID 619366
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 7
Phenotype entries for this disease 6
Associated with 1 gene MYOF
Associated tissues -
Disease features -
Remarks -
Date created 2025-03-13 09:28:38 +01:00 (CET)
Date last edited N/A


Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00454900 family PubMed: Ariano 2020, Journal: Ariano 2020 2-generation family in which a mother and her 2 daughters had HAE with normal C1INH F no Italy - - - - - HAE7 History of recurrent angioedema without urticaria and not responding to antihistamines and steroids for acute attacks or prophylaxis MYOF MYOF 1 3 Christian Drouet
00469537 - PubMed: Fomina 2025, Journal: Fomina 2025 2-generation Russian family with a male proband M no Russia - - - - - HAE7 Swellings of genital area, tongue, lips, and upper extremities; attacks preceded by a series of prodroms, including hyperesthesia, tingling, marginal erythema. In the absence of therapeutic intervention, the AE stayed for a period of up to 72 hours. The average frequency of AE prior to the initiation of therapy was once every 2 months. MYOF MYOF 1 1 Christian Drouet
00469538 - PubMed: Fomina 2025, Journal: Fomina 2025 2-generation family, 1 affected, unaffected non-carrier parents F no Russia - - - - - HAE7 Angioedema appearance in the coccyx area during surgery for a coccygeal cyst. Subsequently, the AE attacks occurred involving eyelids, lips, larynx, pharynx, hands, and feet, but no preceding symptoms were observed. In the absence of therapeutic intervention, the angioedema typically resolved within a period of 72h with the frequency on average 2–4 times per month. MYOF MYOF 1 1 Christian Drouet
00469715 Pat1 PubMed: Gao 2025, Journal: Gao 2025 A single Chinese family (Huashan Hospital) F no China - - - - - HAE7 HAE-nC1INH with unilateral lower extremity swelling triggered after a dog bite and vaccination. The swelling remained incompletely solved but demonstrated intermittent exacerbations, particularly under stress. The patient also reported two episodes of severe abdominal pain and transient voice changes. Treatment with antihistamines, corticosteroids, herbal medicines, and omalizumab yielded no improvement. MYOF MYOF 1 1 Christian Drouet
00469716 Pat2 PubMed: Gao 2025, Journal: Gao 2025 A single Chinese family (Huashan Hospital) F no China - - - - - HAE7 HAE-nC1INH with recurrent severe abdominal pain, vomiting, diarrhea, and episodic swelling affecting the wrists and bilateral lower extremities; symptoms persisting for 2–7 days per episode. No improvement with glucocorticoid, but shortened episode duration with icatibant and effective symptom control with lanadelumab. MYOF MYOF 1 1 Christian Drouet
00469718 Pat3 PubMed: Gao 2025, Journal: Gao 2025 A single individual in a Chinese family without family history of HAE-nC1INH F - China - - - - - HAE7 HAE-nC1INH with recurrent swelling of the hands and eyelids along with severe abdominal pain, exacerbated by stress, emotional factors, and pollen exposure but resistant to oral antihistamines. MYOF MYOF 1 1 Christian Drouet
00469719 Pat4 PubMed: Gao 2025, Journal: Gao 2025 A single Chinese family M no China - - - - - HAE7 HAE-nC1INH with recurrent skin swelling primarily involving the extremities and tongue, more frequent following emotional stress and poor sleep. MYOF MYOF 1 1 Christian Drouet
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