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37 Possible Causes for Mutation in the IGHMBP2 Gene

  • Spinal Muscular Atrophy with Respiratory Distress Type 1

    Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder caused by mutations in the IGHMBP2 gene and characterized[ncbi.nlm.nih.gov] Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a motor neuron disease caused by mutations in the IGHMBP2 gene, without a cure.[ncbi.nlm.nih.gov] Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin[ncbi.nlm.nih.gov]

  • Charcot-Marie-Tooth Disease Type 2S

    CMT 2S is caused by a mutation in the IGHMBP2 gene.[cmtausa.org] Depending on the specific mutations, patients either have SMARD1, caused by autosomal recessive mutations in the IGHMBP2 gene (which is not related to the myelin protein MBP[cmtausa.org] IGHMBP2 gene mutations can present with two different phenotypes: 1) the severe SMARD1 (Spinal Muscular Atrophy associated with Respiratory Distress) or 2) the milder CMT2S[cmtausa.org]

  • Distal Spinal Muscular Atrophy Type 3

    […] in the IGHMBP2 gene.[pediatrics.aappublications.org] The condition is caused by a genetic mutation in the IGHMBP2 gene [1] [2] and is inherited in an autosomal recessive manner.[en.wikipedia.org] SMARD1 is not linked to the SMN1 gene locus on chromosome 5q13 (classic SMA), but is caused by mutations in the IGHMBP2 gene on chromosome 11q13.[smasupport.com]

  • Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

    […] in the IGHMBP2 gene.[pediatrics.aappublications.org] CMT 2S is caused by a mutation in the IGHMBP2 gene.[cmtausa.org] SMA with respiratory distress (SMARD1) Inheritance is autosomal recessive due to mutations in the IGHMBP2 gene on chromosome 11q13. [ 9 ] Epidemiology The estimated incidence[patient.info]

  • Distal Hereditary Motor Neuropathy Type 1

    See DSMA1 (SMARD1; 604320), caused by mutation in the IGHMBP2 gene (600502); DSMA2 (605726), caused by mutation in the SIGMAR1 gene (601978) on chromosome 9p13; DSMA3 (607088[ncbi.nlm.nih.gov] More than 60 different mutations in the IGHMBP2 gene have been found to cause SMARD1.[smasupportuk.org.uk] Muscular Atrophy with Respiratory Distress (SMARD) with mutation in the IGHMBP2 gene.[smasupportuk.org.uk]

  • Spinal Muscular Atrophy Type 1

    It is caused by mutations in the IGHMBP2 gene located on chromosome 11q13.2 (Grohmann et al., 2001) and is clinically and genetically distinct from classic spinal muscular[genedx.com] SMARD1 is not linked to the SMN1 gene locus on chromosome 5q13 (classic SMA), but is caused by mutations in the IGHMBP2 gene on chromosome 11q13.[smasupport.com] SMA with respiratory distress (SMARD1) Inheritance is autosomal recessive due to mutations in the IGHMBP2 gene on chromosome 11q13. [ 9 ] Epidemiology The estimated incidence[patient.info]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    SMA with respiratory distress (SMARD1) Inheritance is autosomal recessive due to mutations in the IGHMBP2 gene on chromosome 11q13. [ 9 ] Epidemiology The estimated incidence[patient.info] Both parents were tested positive for heterozygous mutation in IGHMBP2 gene (supplementary material).[annalsofian.org] Pathology • Genetic – 2 genes, SMN1 and SMN2 • Homozygous deletion or mutations in SMN1 gene • SMN2 – production of alternative SMN protein • Unstable • Rapidly degrades •[slideshare.net]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    CMT 2S is caused by a mutation in the IGHMBP2 gene.[cmtausa.org] Depending on the specific mutations, patients either have SMARD1, caused by autosomal recessive mutations in the IGHMBP2 gene (which is not related to the myelin protein MBP[cmtausa.org] IGHMBP2 gene mutations can present with two different phenotypes: 1) the severe SMARD1 (Spinal Muscular Atrophy associated with Respiratory Distress) or 2) the milder CMT2S[cmtausa.org]

  • Lafora Disease

    gene Neuropathy Hereditary sensory and autonomic type III Sequencing of the IKBKAP gene Neuropathy, Ataxia and Retinitis Pigmentosa Detection of mutations 8993T G and 8993T[pentacorelab.hu] TSEN2, TSEN34, TSEN54, TUBA8, TUBB2B, TUBB3, TUBA1A, VRK1, YWHAE, ZIC1, ZIC2, ZIC3, ZIC4 Neuronopathy, distal hereditary motor, type VI NGS and Sanger Sequencing of the IGHMBP2[pentacorelab.hu]

  • Spinal Muscular Atrophy Type 4

    SMARD1 is not linked to the SMN1 gene locus on chromosome 5q13 (classic SMA), but is caused by mutations in the IGHMBP2 gene on chromosome 11q13.[smasupport.com] SMA with respiratory distress (SMARD1) Inheritance is autosomal recessive due to mutations in the IGHMBP2 gene on chromosome 11q13. [ 9 ] Epidemiology The estimated incidence[patient.info] […] also be non-hereditary and due to mutations in the SMN gene. [ 6 ] There is an X-linked recessive form known as bulbo-SMA, or Kennedy's syndrome (daughters who inherit the gene[patient.info]

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