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Kininogen deficiency, total

MedGen UID:
341606
•Concept ID:
C1856719
•
Disease or Syndrome
Synonym: Kininogen Deficiency, Total
 
OMIM®: 228960; 612358

Recent clinical studies

Diagnosis

Severe high-molecular-weight kininogen deficiency due to a homozygous c.1456C > T nonsense variant in a large Chinese family.
Yang J, Fan L, Qiao Y, Zhao Y, Zhu T
J Thromb Thrombolysis 2020 Nov;50(4):989-994. doi: 10.1007/s11239-020-02088-6. PMID: 32185598
A novel frameshift mutation in exon 4 causing a deficiency of high-molecular-weight kininogen in a patient with splenic infarction.
Fukushima N, Itamura H, Wada H, Ikejiri M, Igarashi Y, Masaki H, Sano M, Komiyama Y, Ichinohe T, Kimura S
Intern Med 2014;53(3):253-7. doi: 10.2169/internalmedicine.53.0737. PMID: 24492696

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