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60 Possible Causes for Mutation in the IGHMBP2 Gene, Onset of Symptoms in the Fourth to Sixth Decade of Life

  • 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]

    Missing: Onset of Symptoms in the Fourth to Sixth Decade of Life
  • Charcot-Marie-Tooth Disease Type 2S

    CMT 2S is caused by a mutation in the IGHMBP2 gene.[cmtausa.org] Clinical and electrophysiological data Limbs Onset of peripheral neuropathic symptoms was between the fourth and the sixth decades of life in five out of the seven patients[jnnp.bmj.com] 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]

  • Distal Spinal Muscular Atrophy Type 3

    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] […] in the IGHMBP2 gene.[pediatrics.aappublications.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]

    Missing: Onset of Symptoms in the Fourth to Sixth Decade of Life
  • Restless Legs Syndrome

    Although one third of patients are affected before the age of 20 years, clinical presentation typically occurs between the fourth and sixth decades of life, when sensory symptoms[dx.doi.org] […] of disease, sensory symptoms are mild and punctuated by asymptomatic periods of variable duration.[dx.doi.org] […] age-dependent expressivity; the influences of anemia, uremia, diabetes, and peripheral neuropathy; and possibly the modulation of phenotype by body iron stores. 18 At the onset[dx.doi.org]

    Missing: Mutation in the IGHMBP2 Gene
  • 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]

    Missing: Onset of Symptoms in the Fourth to Sixth Decade of Life
  • 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]

    Missing: Onset of Symptoms in the Fourth to Sixth Decade of Life
  • 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]

    Missing: Onset of Symptoms in the Fourth to Sixth Decade of Life
  • Atrial Standstill

    A case of persistent atrial standstill associated with muscular dystrophy of the limb girdle type is reported for the first time in the literature, In spite, of advanced myopathy, the patient delivered an apparently normal child. Hemodynamic studies including a normal coronary cinearteriography were performed in the[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the IGHMBP2 Gene
  • 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]

    Missing: Onset of Symptoms in the Fourth to Sixth Decade of Life
  • 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] […] in the IGHMBP2 gene. [28] An autosomal dominant late-onset lower motor neuronopathy was discovered in 2 Finnish families with linkage to a mutation on band 22q11.2-q13.2.[emedicine.medscape.com]

    Missing: Onset of Symptoms in the Fourth to Sixth Decade of Life

Further symptoms