Factor VII Deficiency

Alternative Names

  • F7 Deficiency
  • Hypoproconvertinemia

Associated Genes

Coagulation Factor VII
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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Coagulation defects, purpura and other haemorrhagic conditions

OMIM Number

227500

Mode of Inheritance

Autosomal recessive

Gene Map Locus

13q34

Description

F7 deficiency is a rare blood clotting disorder which varies in severity between affected individuals. Patients may suffer from episodes of epistaxis, menorrhagia, hemarthrosis, intramuscular hematomas and hematuria.    

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
227500.1.1LebanonFemaleYesYes Abnormal bleeding ; Death in infancyNM_000131.4:c.291+1G>CHomozygousAutosomal, RecessiveFarah et al, 2015 Also related to the ...
227500.1.2LebanonFemaleYesYes Abnormal bleeding ; Abnormality of the ...NM_000131.4:c.291+1G>CHomozygousAutosomal, RecessiveFarah et al, 2015 Sister of 227500.1.1
227500.2.1LebanonFemaleYesYes Abnormal bleeding ; Death in infancyNM_000131.4:c.291+1G>CHomozygousAutosomal, RecessiveFarah et al, 2015 Also related to the ...
227500.2.2LebanonFemaleYesYes Abnormal bleedingNM_000131.4:c.291+1G>CHomozygousAutosomal, RecessiveFarah et al, 2015 Sister of 227500.2.1
227500.2.3LebanonMaleYesYes Abnormal bleeding ; Death in infancyNM_000131.4:c.291+1G>CHomozygousAutosomal, RecessiveFarah et al, 2015 Half-brother of 2275...
227500.2.4LebanonMaleYesYes Abnormal bleeding ; Death in infancyNM_000131.4:c.291+1G>CHomozygousAutosomal, RecessiveFarah et al, 2015 Half-brother of 2275...
227500.3.1LebanonFemaleYesNo Abnormal bleedingNM_000131.4:c.291+1G>CHomozygousAutosomal, RecessiveFarah et al, 2015 Also related to the ...
227500.4.1LebanonMaleYesYes Abnormal bleedingNM_000131.4:c.291+1G>CHomozygousAutosomal, RecessiveFarah et al, 2015
227500.5ArabUnknownNo Reduced factor VII activityNM_000131.4:c.1074G>A, NM_000131.4:c.571+78G>AHeterozygousAutosomal, RecessiveFerraresi et al, 2020 Proband #17 in the p...
227500.6ArabUnknownNo Reduced factor VII activityNM_000131.4:c.572-392C>G, NC_000013.11:g.113105517_113105518insCCTATATCCT, NM_000131.4:c.1238G>AHeterozygous, HomozygousAutosomal, RecessiveFerraresi et al, 2020 Proband #377 in the ...
227500.7ArabUnknownYes Reduced factor VII activityNM_000131.4:c.571+78G>A, NC_000013.11:g.113105517_113105518insCCTATATCCT, NM_000131.4:c.1238G>AHeterozygousAutosomal, RecessiveFerraresi et al, 2020 Proband #284 in the ...
227500.8LebanonUnknownYes Reduced factor VII activity; Oral bleedi...NM_000131.4:c.571+78G>A, NC_000013.11:g.113105440A>G, NM_000131.4:c.64+196G>A, NM_000131.4:c.131-394T>CHomozygousAutosomal, RecessiveFerraresi et al, 2020 Proband #90 in the p...
227500.9TunisiaUnknownNo Reduced factor VII activityNM_000131.4:c.571+78G>A, NC_000013.11:g.113113080A>GHomozygousAutosomal, RecessiveFerraresi et al, 2020 Proband #15 in the p...
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