Create issue ticket

23 Possible Causes for Congenital Pain Insensitivity, Family History of Hypercholesterolemia

  • Heterozygous Familial Hypercholesterolemia

    insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism , Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Müllerian duct syndrome II ) TGF beta receptors :[en.wikipedia.org] history — Early onset CVD — Hyperlipidemia, often requiring treatment HOW IS FAMILIAL HYPERCHOLESTEROLEMIA DIAGNOSED?[geneticseducation.ca] 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

    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] On examination, he was found to have multiple planar and tendinous xanthomas, an (LDL) cholesterol level of 24.6 mmol/l and family history of hypercholesterolemia.[ncbi.nlm.nih.gov] Two new specific codes for FH have been approved: E78.01: Familial hypercholesterolemia Z83.42: Family history of familial hypercholesterolemia The National Lipid Association[lipid.org]

  • Familial Hyperlipidemia

    […] deficiency, disorder of lipoprotein metabolism, unspecified and family history of familial hypercholesterolemia.[blueprintgenetics.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] The likelihood of FH is higher in individuals with a positive family history of hypercholesterolemia or of premature CHD (onset in men before age 55 years and women before[beta.labcorp.com]

  • CADASIL Syndrome

    Congenital Insensitivity to Pain with Anhidrosis Yasuhiro Indo. Initial Posting: August 5, 2008; Last Update: April 17, 2014.[ncbi.nlm.nih.gov] He had mild hypercholesterolemia and migraine. His family history was unremarkable. The underlying cause of stroke could not be elucidated.[jamanetwork.com] Her family history was significant for headaches and premature death.[functionalneurology.com]

  • Optic Atrophy-Intellectual Disability Syndrome

    […] 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] Familial Hypercholesterolemia Based upon a consensus statement on familial hypercholesterolemia (FH) from the European Atherosclerosis Society (Nordestgaard, et al., 2013)[aetna.com] , see congenital insensitivity to pain asymmetric hypoplasia of facial structures , see craniofacial microsomia ataxia neuropathy spectrum ataxia telangiectasia syndrome[mygenomics.com]

  • Familial Hypobetalipoproteinaemia Type 1

    . : Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis. Muscle Nerve. 2009; 40 (5): 855–859.[f1000research.com] […] deficiency, disorder of lipoprotein metabolism, unspecified and family history of familial hypercholesterolemia.[blueprintgenetics.com] history of familial hypercholesterolemia Sample Requirements Blood (min. 1ml) in an EDTA tube Extracted DNA, min. 2 μg in TE buffer or equivalent Saliva (Oragene DNA OG-500[blueprintgenetics.com]

  • Tibia Varum

    Congenital insensitivity to pain Congenital insensitivity (indifference) to pain is a rare syndrome inherited as an autosomal recessive trait.[clinicalgate.com] Unlike familial hypercholesterolemia (FH), which is characterized by an elevated low-density lipoprotein cholesterol (LDL-C) and a family history of hypercholesterolemia,[oncohemakey.com] Insensitivity to Pain - Orthopaedic Implications RS Kuo MF Macnicol J Paediatr Orthop B 1996;5:292-5 Measurement of Periprosthetic Bone Density in Hip Arthroplasty Using[drroderickkuo.com.au]

  • Autosomal Dominant Spastic Paraplegia Type 41

    Entry H00265 Disease Name Hereditary sensory and autonomic neuropathy Subgroup Familial dysautonomia [DS: H01987 ] Congenital pain insensitivity with anhidrosis [DS: H01836[genome.jp] Familial Hypercholesterolemia Based upon a consensus statement on familial hypercholesterolemia (FH) from the European Atherosclerosis Society (Nordestgaard, et al., 2013)[aetna.com] insensitivity to pain due to the NaV1.9 variant p.L811P.[genome.jp]

  • Autosomal Recessive Spastic Paraplegia Type 20

    […] disorder, 167400 603415 Autosomal dominant SCN9A 2q24.3 {Dravet syndrome, modifier of} 607208 603415 Autosomal dominant SCN9A 2q24.3 Insensitivity to pain, congenital 243000[mnglabs.com] Familial Hypercholesterolemia Based upon a consensus statement on familial hypercholesterolemia (FH) from the European Atherosclerosis Society (Nordestgaard, et al., 2013)[aetna.com] […] to pain, congenital, with anhidrosis 256800 191315 Autosomal recessive NTRK1 1q23.1 Medullary thyroid carcinoma, familial 155240 191315 Autosomal dominant NUBPL 14q12 Mitochondrial[mnglabs.com]

  • Autosomal Recessive Spastic Paraplegia Type 23

    Familial Hypercholesterolemia Based upon a consensus statement on familial hypercholesterolemia (FH) from the European Atherosclerosis Society (Nordestgaard, et al., 2013)[aetna.com] […] disorder, 167400 603415 Autosomal dominant SCN9A 2q24.3 {Dravet syndrome, modifier of} 607208 603415 Autosomal dominant SCN9A 2q24.3 Insensitivity to pain, congenital 243000[mnglabs.com] history of juvenile polyps.[aetna.com]

Further symptoms