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  1. NTRK1 Congenital Insensitivity to Pain with Anhidrosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1769
    ... and/or parental consanguinity Establishing the Diagnosis The diagnosis of NTRK1 congenital insensitivity to pain with anhidrosis ( NTRK1 -CIPA) is established in a proband with ...
  2. Hereditary Sensory and Autonomic Neuropathy Type II - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK49247
    ... untreated phenylketonuria . Management No clinical practice guidelines for hereditary sensory and autonomic neuropathy type II (HSAN2) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
  3. 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 ...
  4. 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 ...
  5. 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 ...
  6. 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 - ...
  7. 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 ...
  8. TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK584409
    ... 3. Sensory and Autonomic Neuropathies in the Differential Diagnosis of TECPR2- Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability View in own window Gene ...
  9. Congenital Insensitivity to Pain Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK481553
    ... observed in 22/28 Israeli affected individuals with congenital insensitivity to pain and anhidrosis ... the Clinical Diagnosis of Congenital Insensitivity to Pain There are no ...
  10. 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 ...
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