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70 Possible Causes for Cold-Induced Muscle Cramps, Mutation in the TNXB Gene

  • Ehlers-Danlos Syndrome Classic-Like Type 1

    Ehlers-Danlos syndrome due to tenascin-X deficiency is an autosomal recessive disorder caused by mutations of the TNXB gene.[moldiag.com] Cases have been reported of patient manifesting chronic widespread pain, chronic headache occurring during pregnancy, depression and/or cold-induced muscle cramps, who have[bredagenetics.com] It is caused by mutations in the TNXB gene, which contains the instructions needed to make the protein Tenascin-X.[diseaseinfosearch.org]

  • Genetic Recurrent Myoglobinuria

    EDS due to tenascin X deficiency is caused by compound heterozygous or homozygous mutations in the TNXB gene.[bredagenetics.com] Cases have been reported of patient manifesting chronic widespread pain, chronic headache occurring during pregnancy, depression and/or cold-induced muscle cramps, who have[bredagenetics.com] cramps or myalgia.[bredagenetics.com]

  • Ehlers-Danlos Syndrome Hypermobility Type

    In some cases, however, mutation(s) in the TNXB gene lead to this disorder.[dovemed.com] Mutations in the TNXB gene cause the classical-like type and have been reported in a very small percentage of cases of the hypermobile type (although in most people with this[ghr.nlm.nih.gov] The cause of the hypermobility type has not been identified, although mutations in the TNXB gene are present in a tiny percentage of cases.[patient.info]

    Missing: Cold-Induced Muscle Cramps
  • Ehlers-Danlos-Syndrome Type 10

    Compound heterozygous mutations of the TNXB gene cause primary myopathy. Neuromuscular Disorders. 2013 Aug 31;23(8):664-9.[edswellness.org] Mutations in the TNXB gene cause the classical-like type and have been reported in a very small percentage of cases of the hypermobile type (although in most people with this[ghr.nlm.nih.gov] The cause of the hypermobility type has not been identified, although mutations in the TNXB gene are present in a tiny percentage of cases.[patient.info]

    Missing: Cold-Induced Muscle Cramps
  • Joint Subluxation

    Mutations in the TNXB gene, resulting in the reduction of tenascin X, cause a small percentage of these cases. 61 Tenascin X is a large extracellular matrix protein associated[ncbi.nlm.nih.gov] The stiffness phase with progressive limitation of joint motion develops later. 11 The mutation of the hypermobility type is not known in most cases.[ncbi.nlm.nih.gov]

    Missing: Cold-Induced Muscle Cramps
  • Ehlers-Danlos Syndrome Type 4

    Mutations in the TNXB gene cause the classical-like type and have been reported in a very small percentage of cases of the hypermobile type (although in most people with this[ghr.nlm.nih.gov] The cause of the hypermobility type has not been identified, although mutations in the TNXB gene are present in a tiny percentage of cases.[patient.info] In most individuals with EDS, hypermobility type, the causative gene is unknown and unmapped. 11 Haploinsufficiency of TNXB and heterozygosity for missense mutations in TNXB[nature.com]

    Missing: Cold-Induced Muscle Cramps
  • Autosomal Dominant Prognathism

    A small percentage of people with this condition have a change (mutation) in the TNXB gene.[findzebra.com]

    Missing: Cold-Induced Muscle Cramps
  • Brittle Cornea Syndrome Type 2

    Mutations in the TNXB gene cause the classical-like type and have been reported in a very small percentage of cases of the hypermobile type (although in most people with this[ghr.nlm.nih.gov] The cause of the hypermobility type has not been identified, although mutations in the TNXB gene are present in a tiny percentage of cases.[patient.info] It is caused by mutations in the gene TNXB.[rarediseases.org]

    Missing: Cold-Induced Muscle Cramps
  • Ehlers-Danlos Syndrome

    Mutations in the TNXB gene have been found in a very small percentage of cases of the hypermobility type (although in most cases, the cause of this type is unknown).[web.archive.org] Mutations in the TNXB gene cause the classical-like type and have been reported in a very small percentage of cases of the hypermobile type (although in most people with this[ghr.nlm.nih.gov] The classical type results most often from mutations in either the COL5A1 gene or the COL5A2 gene.[web.archive.org]

    Missing: Cold-Induced Muscle Cramps
  • Kyphoscoliosis

    A final diagnosis requires molecular testing; clEDS is caused by a complete lack of Tenascin XB (due to biallelic TNXB mutations, that lead to nonsense-mediated mRNA decay[ehlers-danlos.com] , or biallelic deletion of TNXB ).[ehlers-danlos.com] TNXB is the only gene associated with clEDS. Classical-like EDS is inherited in the autosomal recessive pattern.[ehlers-danlos.com]

    Missing: Cold-Induced Muscle Cramps

Further symptoms