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67 Possible Causes for Congenital Pain Insensitivity, Tendon Xanthomas

  • Heterozygous Familial Hypercholesterolemia

    Sixty-two patients had positive physical examination findings for Achilles tendon xanthomas.[ajronline.org] insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism , Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Müllerian duct syndrome II ) TGF beta receptors :[en.wikipedia.org] insensitivity to pain with anhidrosis) KIT (KIT Piebaldism, Gastrointestinal stromal tumor) STPK AMHR2 (Persistent Müllerian duct syndrome II) TGF beta receptors: Endoglin[en.wikipedia.org]

  • Homozygous Familial Hypercholesterolemia

    The condition is characterized by exceptionally high LDL cholesterol levels, cutaneous and tendon xanthomas, and valvular and supravalvular stenosis, and accelerated atherosclerosis[ncbi.nlm.nih.gov] insensitivity to pain with anhidrosis) KIT (KIT Piebaldism, Gastrointestinal stromal tumor) STPK AMHR2 (Persistent Müllerian duct syndrome II) TGF beta receptors: Endoglin[en.wikipedia.org] Xanthomas The high cholesterol level may result in the build-up of cholesterol deposits in the skin and tendons as well – xanthomas.[aoporphan.com]

  • Familial Hyperlipidemia

    His physical exam is normal and there is no tendon xanthomas or corneal arcus. Familial hypercholesterolemia (FH) is suspected.[knowledge.statpearls.com] insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism, Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Müllerian duct syndrome II ) TGF beta receptors : Endoglin[en.wikipedia.org] Image of tendon xanthoma, a pathognomonic physical examination finding in patients with familial hypercholesterolemia. Figure.[jaoa.org]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    Skin is affected by xanthelasmata and tendon xanthomas.[emedicine.medscape.com] , see congenital insensitivity to pain asymmetric hypoplasia of facial structures, see craniofacial microsomia ataxia neuropathy spectrum ataxia telangiectasia syndrome, see[mygenomics.com] Xanthelasmata and tendon xanthomas may be present. Serum reveals very low vitamin E, high cholesterol, triglyceride levels and β-lipoprotein.[neuroweb.us]

  • Hereditary Hyperekplexia

    Cerebrotendinous refers to the typical locations of these xanthomas in the body - cerebro means the brain and tendinous means tendons (tissue that attaches muscle to bone)[geneticdisordersuk.org] , Congenital, Autosomal Recessive Asymbolia For Pain Congenital Analgesia, Autosomal Recessive Insensitivity To Pain, Channelopathy-Associated Neuropathy, Hereditary Sensory[ukgtn.nhs.uk] Mental Retardation Syndrome congenital nervous system abnormality Congenital Pain Insensitivity conjunctival pigmentation Conn's syndrome Contiguous Abcd1/Dxs1375e Deletion[rgd.mcw.edu]

  • CANOMAD Syndrome

    Xanthelasmata and tendon xanthomas may be present. Serum reveals very low vitamin E, high cholesterol, triglyceride levels and β-lipoprotein.[neuroweb.us] […] dystrophy with cataracts and intellectual disability Congenital Pain Insensitivity Conn's syndrome Contiguous Abcd1/Dxs1375e Deletion Syndrome Corneal Cerebellar Syndrome[rgd.mcw.edu] insensitivity to pain with anhidrosis CIPO - See Chronic intestinal pseudoobstruction Circadian rhythm sleep disorder, free-running type - See Non 24 hour sleep wake disorder[herenciageneticayenfermedad.blogspot.com]

  • Autosomal Recessive Spinocerebellar Ataxia 8

    Skin is affected by xanthelasmata and tendon xanthomas.[emedicine.medscape.com] , see congenital insensitivity to pain asymmetric hypoplasia of facial structures, see craniofacial microsomia ataxia neuropathy spectrum ataxia telangiectasia syndrome, see[mygenomics.com] xanthomas, early atherosclerosis, osteoporosis and diarrhea.[movementdisordersindia.org]

  • Autosomal Recessive Spastic Ataxia Type 2

    xanthomas, premature atherosclerosis, cataracts and neurological dysfunction which is manifested as cerebellar ataxia, dementia and spinal cord paresis[ 100 ].[wjgnet.com] Entry H00265 Disease Name Hereditary sensory and autonomic neuropathy Subgroup Familial dysautonomia [DS: H01987 ] Congenital pain insensitivity with anhidrosis [DS: H01836[genome.jp] Cerebrotendinous xanthomatosis is a sterol storage disorder, characterized by abnormal accumulation of cholesterol and cholestanol in neural and other tissues, thus causing tendon[wjgnet.com]

  • Autosomal Recessive Spastic Paraplegia Type 28

    CX is so named due to the presence of tendon xanthomas, although these may be absent.[elsevier.es] Genetic Testing - Insensitivity congenita pain (Congenital insensitivity to pain) - Gen SCN9A.[ivami.com] Hypothyroidism, Nongoitrous 1 Sanger sequencing of the TSHR gene Congenital Insensitivity to Pain with Anhidrosis Sanger Sequencing of the NTRK1 gene Congenital myasthenic[pentacorelab.hu]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    Skin is affected by xanthelasmata and tendon xanthomas.[emedicine.medscape.com] […] disability-spastic quadriplegia syndrome Congenital insensitivity to pain with hyperhidrosis Congenital intrauterine infection-like syndrome Congenital lactic acidosis, Saguenay-Lac-Saint-Jean[se-atlas.de] xanthomas, premature atherosclerosis, cataracts and neurological dysfunction which is manifested as cerebellar ataxia, dementia and spinal cord paresis[ 100 ].[wjgnet.com]

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