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116 Possible Causes for Congenital Pain Insensitivity, Male Sterility

  • Autonomic Neuropathy

    Abstract Congenital insensitivity (HSAN) to pain is a rare disorder, which affects the body's painprotective mechanism and predisposes the patient to increased risk and incidence[ncbi.nlm.nih.gov] 1型遺伝性感覚性自律神経性ニューロパチー 4型遺伝性感覚性自律神経性ニューロパチー Autosomal Dominant Neuropathy Hereditary Sensory Radicular Congenital Insensitivity to Pain with Anhidrosis Congenital Pain Insensitivity[lsd-project.jp] Abstract Hereditary sensory and autonomic neuropathy type IV (HSAN IV), or congenital insensitivity to pain with anhidrosis, is an autosomal recessive disorder characterized[ncbi.nlm.nih.gov]

  • Pseudopseudohypoparathyroidism

    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] Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital[en.wikipedia.org]

  • Myotonic Dystrophy

    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] Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital[en.wikipedia.org]

  • Prader-Willi Syndrome

    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] […] syndrome, Jackson–Weiss syndrome) FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome) INSR (Donohue syndrome Rabson–Mendenhall syndrome) NTRK1 (Congenital[en.wikipedia.org]

  • Waisman Syndrome

    However, they are sterile, and develop feminine body characteristics. They usually have normal intelligence.[monteweston.com] […] to pain, congenital, with anhidrosis 256800 N UP62 19q13.33 Striatonigral degeneration, infantile 271930 N XF5 Xq22.1 Nuclear RNA export factor 5 300319 O CRL Xq25-q26 Dent[institutobernabeu.com] Males may have XXY, XXXY,XXXXY, even XXXXXY. These individuals have a higher incidence of mental retardation than XXY individuals.[monteweston.com]

  • Autosomal Dominant Prognathism

    G - XX MALE SYNDROME Epidemiology: 0.1 / 1 000 male births. Clinics: Klinefelter like phenotype; sterility.[atlasgeneticsoncology.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] […] diameter bi-acromial diameter). normal penis. small, indolent testes. normal or rare, feminine shaped pubic pilosity. libido diminished; impotence at age 30 yrs is frequent. sterility[atlasgeneticsoncology.org]

  • Corneal Ulcer

    Kingella kingae was isolated from a corneal ulcer in an 11-month-old male.[ncbi.nlm.nih.gov] […] and congenital insensitivity to pain with anhidrosis. 1 Ocular symptoms Symptoms of ocular surface discomfort are rarely reported by NK patients.[ncbi.nlm.nih.gov] This organism has been previously reported from normally sterile sites, including sites of endophthalmitis, but this is the first time isolation from the cornea has been reported[ncbi.nlm.nih.gov]

  • Bloom Syndrome

    Clinical findings Pre- and postnatal growth deficiency, photosensitivity, benign and malignant tumours in childhood, male sterility, scattered skin lesions (facial telangiectasias[medical-dictionary.thefreedictionary.com] Congenital Insensitivity to Pain with Anhidrosis Yasuhiro Indo. Initial Posting: August 5, 2008; Last Update: April 17, 2014.[ncbi.nlm.nih.gov] Male sterility is common because, for reasons that are not well understood, men with Bloom syndrome are unable to produce sperm.[rarediseases.org]

  • Kallmann Syndrome Type 3

    New frontiers in the treatment of male sterility. Contraception. 2002;65:279–81. Google Scholar Rohayem J, Sinthofen N, Nieschlag E, Kliesch S, Zitzmann.[rbej.biomedcentral.com] More than 100 pathogenic variants in the SCN9A gene have been reported (HGMD Professional 2017.1), associated with congenital insensitivity to pain (28/1049, erythromelalgia[centogene.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]

  • Leydig Cell Hypoplasia due to LHB Deficiency

    […] and sterility, lactorrhea and amenorrhea in female. 8) In lab investigation there is increase in organic phosphate, glucose and there is hyper calciurea. 50 HYPO-SECRETION[slideplayer.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] insensitivity, congenital NTRK1 Obesity, hyperphagia, and developmental delay NTRK2 Striatonigral degeneration, infantile NUP62 Night blindness, congenital stationary NYX[springer.com]

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