Afibrinogenemia, Congenital

Alternative Names

  • Hypofibrinogenemia, Congenital
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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

202400

Mode of Inheritance

Autosomal recessive

Gene Map Locus

4q32.1

Description

Congenital afibrinogenemia is a rare inherited blood disoredr characterized by a complete absence of the fibrinogen enzyme. Since this enzyme plays a major role in the blood clotting process, patients affected with this disorder have a susceptibility to bleeding episodes since birth. 

Mutations in genes coding for either the alpha, beta or gamma polypeptide of the fibrinogen gene can cause congenital afibrinogenemia. 

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
202400.1.1LebanonFemaleYesYes Abnormal bleeding; Prolonged prothrombi...NM_021870.2:c.400C>THomozygousAutosomal, RecessiveNeerman-Arbez et al., 2004
202400.1.2LebanonMaleYesYes Abnormal bleeding; Prolonged prothromb...NM_021870.2:c.400C>THomozygousAutosomal, RecessiveNeerman-Arbez et al., 2004 Brother of 202400.1....
202400.2.1LebanonMaleNoYes Abnormal bleeding; Prolonged prothrombi...NM_021870.2:c.400C>THomozygousAutosomal, RecessiveNeerman-Arbez et al., 2004
202400.3.1LebanonMaleYesYes Abnormal bleeding; Prolonged prothromb...NM_021870.2:c.400C>THomozygousAutosomal, RecessiveNeerman-Arbez et al., 2004
202400.3.4LebanonFemaleYesYes Abnormal bleeding; Prolonged prothrom...NM_021870.2:c.400C>THomozygousAutosomal, RecessiveNeerman-Arbez et al., 2004 Second cousin of 202...
202400.4LebanonMaleNoYes Abnormal bleeding; Prolonged prothrom...NM_021870.2:c.400C>THomozygousAutosomal, RecessiveNeerman-Arbez et al., 2004
202400.5.1LebanonMaleNoYes Abnormal bleeding; Prolonged prothro...NM_021870.2:c.400C>THomozygousAutosomal, RecessiveNeerman-Arbez et al., 2004
202400.6.1LebanonMaleYesYes Abnormal bleeding; Prolonged prothr...NM_021870.2:c.400C>THomozygousAutosomal, RecessiveNeerman-Arbez et al., 2004
202400.6.2LebanonFemaleYesYes Abnormal bleeding; Prolonged proth...NM_021870.2:c.400C>THomozygousAutosomal, RecessiveNeerman-Arbez et al., 2004 Sibling of 202400.6....
202400.6.3LebanonMaleYesYes Abnormal bleeding; Prolonged proth...NM_021870.2:c.400C>THomozygousAutosomal, RecessiveNeerman-Arbez et al., 2004 Sibling of 202400.6....
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