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12 Possible Causes for Autosomal Recessive Inheritance of Type 2N

  • Von Willebrand Disease

    VWD Type 2N inheritance pattern is autosomal recessive.[mayomedicallaboratories.com] Type 2 von Willebrand disease can be either autosomal dominant or autosomal recessive. [5] Of the four described type 2 von Willebrand disease subtypes (ie, 2A, 2B, 2M, 2N[emedicine.com] 1 have a FVIII binding defect.(2,4) The diagnosis of VWD Type 2N is important for appropriate genetic counseling, because the inheritance of VWD Type 2N is autosomal recessive[mayomedicallaboratories.com]

  • Glanzmann Thrombasthenia

    Glanzmann thrombasthenia is a rare autosomal recessive inherited bleeding disorder characterized by the lack of platelet aggregation, caused by deficiencies and/or abnormalities[ncbi.nlm.nih.gov] We report a case of Glanzmann thrombasthenia combined with type 2N von Willebrand disease (VWD), a variant characterized by an impaired capacity of FVIII to bind von Willebrand[ncbi.nlm.nih.gov]

  • Acquired Von Willebrand Syndrome

    2 20-30% Qualitative defect - multimers abnormal or subgroups absent Usually AD inheritance Rarely autosomal recessive (AR) Bleeding tendency varies Four subtypes: 2A, 2B[patient.info] 2N has autosomal recessive (AR) inheritance, and affected individuals are either homozygous or compound heterozygous for missense mutations, or compound heterozygous for[nature.com] , 2M, 2N Type 3 Rare - the most severe form; 1-5% of cases Quantitative - levels very low or undetectable Homozygous for defective gene AR inheritance No vWF antigen Low factor[patient.info]

  • Hemophilia A

    2 20-30% Qualitative defect - multimers abnormal or subgroups absent Usually AD inheritance Rarely autosomal recessive (AR) Bleeding tendency varies Four subtypes: 2A, 2B[patient.info] , 2M, 2N Type 3 Rare - the most severe form; 1-5% of cases Quantitative - levels very low or undetectable Homozygous for defective gene AR inheritance No vWF antigen Low factor[patient.info] Heterozygous for defective gene Inherited as autosomal dominant (AD) Normal lifespan Occasionally easy bruising and/or menorrhagia Bleeding after dental work, major surgery Type[patient.info]

  • Von Willebrand Disease Type 2N

    VWD Type 2N inheritance pattern is autosomal recessive.[mayomedicallaboratories.com] 1 have a FVIII binding defect.(2,4) The diagnosis of VWD Type 2N is important for appropriate genetic counseling, because the inheritance of VWD Type 2N is autosomal recessive[mayomedicallaboratories.com] This mild VWD phenotype was first described in patients from the Normandy region of France, VWD Normandy (VWD Type 2N).[mayomedicallaboratories.com]

  • Von Willebrand Disease Type 2M

    VWD Type 2N inheritance pattern is autosomal recessive.[mayomedicallaboratories.com] Type 3 and Type 2N are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.[bloodworksnw.org] Inheritance is autosomal recessive.[vwf.group.shef.ac.uk]

  • Von Willebrand Disease Type 1

    VWD Type 2N inheritance pattern is autosomal recessive.[mayomedicallaboratories.com] Type 3 and Type 2N are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.[bloodworksnw.org] Type 2N-- autosomal recessive inheritance, mimics mild hemophilia A and is characterized by excessive bleeding with hemostatic challenge (e.g. surgery); type 2N is associated[preventiongenetics.com]

  • Von Willebrand Disease Type 2A

    VWD Type 2N inheritance pattern is autosomal recessive.[mayomedicallaboratories.com] Type 3 and Type 2N are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.[bloodworksnw.org] 2 20-30% Qualitative defect - multimers abnormal or subgroups absent Usually AD inheritance Rarely autosomal recessive (AR) Bleeding tendency varies Four subtypes: 2A, 2B[patient.info]

  • Von Willebrand Disease Type 2B

    VWD Type 2N inheritance pattern is autosomal recessive.[mayomedicallaboratories.com] Type 3 and Type 2N are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.[bloodworksnw.org] 2 20-30% Qualitative defect - multimers abnormal or subgroups absent Usually AD inheritance Rarely autosomal recessive (AR) Bleeding tendency varies Four subtypes: 2A, 2B[patient.info]

  • Epileptic Encephalopathy

    Mutations in AARS were previously associated with an autosomal-dominant inherited form of axonal neuropathy, Charcot-Marie-Tooth disease type 2N (CMT2N).[ncbi.nlm.nih.gov] The autosomal-recessive AARS mutations identified in the individuals described here, however, cause a severe infantile epileptic encephalopathy with a central myelin defect[ncbi.nlm.nih.gov]

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