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685 Possible Causes for Congenital Pain Insensitivity, Hearing Impairment

  • Congenital Deafness

    Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis. Clin. Genet. 82 , 341–350 (2012). 15.[nature.com] Newborns from across Victoria diagnosed with permanent hearing impairment in both ears of moderate or greater severity are being offered genomic sequencing in addition to[melbournegenomics.org.au] In type one, there is both hearing impairment and vestibular impairment. In type II, there is hearing impairment without vestibular impairment.[dizziness-and-balance.com]

  • Thrombocytopenia

    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]

  • Lytic Bone Lesion

    , Congenital, Autosomal Recessive Asymbolia For Pain Congenital Analgesia, Autosomal Recessive Insensitivity To Pain, Channelopathy-Associated Neuropathy, Hereditary Sensory[ukgtn.nhs.uk] impairment Deafness Hearing defect [ more ] 0000365 Hypoplastic 5th lumbar vertebrae Underdeveloped 5th lumbar vertebrae 0008424 Joint hyperflexibility Joints move beyond[rarediseases.info.nih.gov] Clinically, all neonates are hearing impaired from birth and develop diffuse PPK in childhood. Leukonychia and hyperkeratoses over the joints of the hand also appear.[emedicine.medscape.com]

  • Bjornstad Syndrome

    […] 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] […] with the degree of hearing impairment; autosomal dominant inheritance.[medical-dictionary.thefreedictionary.com] The severity of hearing impairment may be mild, moderate, or severe enough to lead to deafness.[symptoma.com]

  • Pseudohypoparathyroidism Type 1A

    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] impairment 0000407 Short 3rd metacarpal Shortened 3rd long bone of hand 0010041 Spinal cord compression Pressure on spinal cord 0002176 Strabismus Cross-eyed Squint Squint[rarediseases.info.nih.gov] Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital[en.wikipedia.org]

  • Coffin-Lowry Syndrome

    . ---------- It's called "congenital insensitivity to pain" ( info ) What syndrome would someone have that the doctor would need to put them on bloodthinners?[lookfordiagnosis.com] Audiological tests revealed profound hearing impairment. Anomalous labyrinths were shown by CT scan of the temporal bones.[ncbi.nlm.nih.gov] Other features may include hearing impairment, awkward gait, and heart and kidney involvement. Onset in postnatal period.[whonamedit.com]

  • Hereditary Sensory Neuropathy

    See Congenital Insensitivity to Pain Overview.[ncbi.nlm.nih.gov] Format Definition A neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset[uniprot.org] impairment and early‑onset dementia (summary by Klein et al., 2011).[hsan1esociety.org]

  • Oculootoradial Syndrome

    […] syndrome congenital central hypoventilation syndrome Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome Congenital Pain Insensitivity[rgd.mcw.edu] Names and Terminology for IVIC syndrome Other Names : Instituto Venezolano de Investigaciones Cientificas syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia[familydiagnosis.com] IA Congenital IGHD type IB Congenital IGHD type II Congenital insensitivity to pain and thermal analgesia Congenital intestinal aganglionosis Congenital intrauterine infection-like[csbg.cnb.csic.es]

  • Cenani Syndactylism

    insensitivity to pain with anhidrosis ) · KIT ( KIT Piebaldism, Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Mullerian duct syndrome II ) TGF beta receptors :[dictionary.sensagent.com] Most common symptoms of SCLEROSTEOSIS 1; SOST1 Autosomal recessive inheritance Hearing impairment Hypertelorism Nystagmus Strabismus More info about SCLEROSTEOSIS 1; SOST1[mendelian.co] insensitivity to pain with anhidrosis ) · KIT ( KIT Piebaldism , Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Mullerian duct syndrome II ) TGF beta receptors[dictionnaire.sensagent.leparisien.fr]

  • Acrootoocular Syndrome

    […] syndrome congenital central hypoventilation syndrome Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome Congenital Pain Insensitivity[rgd.mcw.edu] impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407 9 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322 10 micrognathia 60 33 frequent (33%) Frequent[malacards.org] Syndrome congenital muscular dystrophy with cataracts and intellectual disability Congenital Pain Insensitivity Conn's syndrome Contiguous Abcd1/Dxs1375e Deletion Syndrome[rgd.mcw.edu]

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