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494 Possible Causes for Cold-Induced Muscle Cramps, Mutation in the TNXB Gene, Skin Hyperelasticity

  • 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] […] that stretches easily (skin hyperelasticity or laxity), and weakness of tissues.[medicinenet.com]

  • Ehlers-Danlos Syndrome Hypermobility Type

    In some cases, however, mutation(s) in the TNXB gene lead to this disorder.[dovemed.com] […] that stretches easily (skin hyperelasticity or laxity), and weakness of tissues.[medicinenet.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]

    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] Bruising susceptibility Bruise easily Easy bruisability Easy bruising [ more ] 0000978 Hyperextensible skin Hyperelastic skin Skin hyperelasticity Stretchable skin [ more[rarediseases.info.nih.gov] […] that stretches easily (skin hyperelasticity or laxity), and weakness of tissues.[medicinenet.com]

    Missing: Cold-Induced Muscle Cramps
  • Arterial Tortuosity Syndrome

    Mutations in the ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, and TNXB genes cause EDS. The vascular type (type IV) is caused by mutations in the COL3A1 gene.[bcidaho.com] Hyperelastic skin Skin hyperelasticity Stretchable skin [ more ] 0000974 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Inguinal hernia 0000023 Joint hyperflexibility[rarediseases.info.nih.gov] Ehlers-Danlos syndrome EDS are a group of disorders that affect connective tissue disorders and share common features characterized by skin hyperelasticity or laxity, abnormal[bcidaho.com]

    Missing: Cold-Induced Muscle Cramps
  • Ehlers-Danlos Syndrom Classic Type 2

    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] […] that stretches easily (skin hyperelasticity or laxity), and weakness of tissues.[medicinenet.com] […] mentioned above is shown in the following table: SNP % is based on # of SNPs on chip vs in SNPedia (unadjusted for mutation frequency or magnitude) Gene Company & chip version[snpedia.com]

    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] Causes skin fragility, easy bruising, skin hyperelasticity, joint hypermobility and scarring.[gillettechildrens.org] […] involvement Spontaneous joint dislocation common Dermatosparaxis Type VII C Other Type V 5% Extensive skin hyperelasticity with splitting, bruising and scarring Type VIII[dermnetnz.org]

    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] hyperelasticity and joint hypermobility.[vasculardiseasemanagement.com] It is important to note that the classical manifestations of connective tissue disorders, such as joint hypermobility or skin hyperelasticity, may or may not be present in[omicsonline.org]

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

    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] hyperelasticity Joint hypermobility Type V (kyphoscoliosis type EDS) X linked Skin hyperelasticity Bruising Type VIa (type 6a EDS, oculoscoliotic EDS) PLOD1 gene at 1p36.3[ganfyd.org] In minority of cases, it is caused by mutation(s) in the TNXB gene.[dovemed.com]

    Missing: Cold-Induced Muscle Cramps
  • Ehlers-Danlos Syndrome Kyphoscoliotic Type 1

    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] These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. ( 9 ) References:[zfin.org] […] involvement Spontaneous joint dislocation common Dermatosparaxis Type VII C Other Type V 5% Extensive skin hyperelasticity with splitting, bruising and scarring Type VIII[dermnetnz.org]

    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] Skin hyperelasticity was noted to be moderate in all patients, and congenital hearing defects were presented in four patients from four separate families.[cags.org.ae] […] of the skin without excessive fragility, and hypermobility of the joints.[zora.uzh.ch]

    Missing: Cold-Induced Muscle Cramps

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