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39 results
  1. Congenital insensitivity to pain with anhidrosis: MedlinePlus Genetics 
    https://medlineplus.gov/...tal-insensitivity-to-pain-with-anhidrosis
    ... sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV. The signs and symptoms of CIPA appear early, usually at birth or ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV. The signs and symptoms of CIPA appear early, usually at birth or ...
  3. DNMT1-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK84112
    ... associated with heterozygous pathogenic variants in DNMT1. Differential Diagnosis Autosomal dominant hereditary sensory and autonomic neuropathies are genetically heterogeneous, but hereditary sensory and autonomic ...
  4. SCN9A Neuropathic Pain Syndromes - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1163
    ... febrile seizures plus; GOF = gain of function; HSAN = hereditary sensory and autonomic neuropathy; LOF = loss of function Differential Diagnosis Erythromelalgia The differential diagnosis of SCN9A erythromelalgia ( SCN9A - ...
  5. Degenerative Nerve Diseases 
    https://medlineplus.gov/degenerativenervediseases.html
    Neurodegenerative (degenerative nerve) diseases are disorders that destroy motor neurons. Parkinson's is an examples. See a list of all the diseases. ... Degenerative nerve ...
  6. Congenital Insensitivity to Pain Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK481553
    ... anhidrosis Tomorrow: The Japan Association of Patients with Congenital Insensitivity to Pain with Anhidrosis ... Following Initial Diagnosis To establish the extent of disease and needs ...
  7. DNMT1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/dnmt1
    ... system is disrupted, leading to the signs and symptoms of ADCADN. More About This Health Condition Hereditary sensory and autonomic neuropathy type IE At least 10 DNMT1 gene mutations ...
  8. Hereditary sensory and autonomic neuropathy type IE: MedlinePlus Genetics 
    https://medlineplus.gov/...-sensory-and-autonomic-neuropathy-type-ie
    ... how the mutations cause the specific signs and symptoms of HSAN IE. Learn more about the gene associated with Hereditary sensory and autonomic neuropathy type IE DNMT1 Inheritance This condition is inherited ...
  9. NGLY1-Related Congenital Disorder of Deglycosylation - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK481554
    ... et al [2012] 16. See OMIM Phenotypic Series: Hereditary sensory and autonomic neuropathy to view genes and modes of inheritance associated with these phenotypes. Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
  10. Familial dysautonomia: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/familial-dysautonomia
    ... heat, and cold. Familial dysautonomia is also called hereditary sensory and autonomic neuropathy, type III. Problems related to this disorder first appear during infancy. Early signs and symptoms include poor muscle tone (hypotonia), feeding difficulties, poor ...
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