FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: neuropathy, hereditary sensory and autonomic
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General Information
Name
neuropathy, hereditary sensory and autonomic
FlyBase ID
FBhh0000576
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes general characteristics of the group of diseases classified as neuropathy, hereditary sensory and autonomic (HSAN). Hereditary sensory and autonomic neuropathy is a genetically heterogeneous disorder with multiple causative genes and mapped loci. HSAN subtypes, as defined by OMIM, can be found in the 'Related Diseases' section, below, by following the link in the "OMIM phenotypic series" section or in the table, which includes links to more detailed reports for subtypes that have been investigated using fly models.

[updated Jul. 2017 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: neuropathy, hereditary sensory and autonomic
OMIM report
Symptoms and phenotype

Hereditary sensory and autonomic neuropathies (HSANs) occur much less frequently than do the primary hereditary motor sensory neuropathies (HMSNs) (http://www.uptodate.com/contents/hereditary-sensory-and-autonomic-neuropathies).

Hereditary sensory and autonomic neuropathies (HSN/HSAN) are clinically and genetically heterogeneous disorders of the peripheral nervous system that predominantly affect the sensory and autonomic neurons (Auer-Grumbach, 2013; pubmed:23931820).

The hereditary sensory and autonomic neuropathies (HSAN), which are also referred to as hereditary sensory neuropathies (HSN), are a genetically and clinically heterogeneous group of disorders associated with sensory dysfunction, typically characterized by characterized by insensitivity to pain and resulting in injury to the fingers, tongue, lips, and other distal appendages. [from MIM:162400, MIM:616488; 2017.07.10]

Genetics
Cellular phenotype and pathology

One of the major feature of the HSANs is loss of large myelinated and unmyelinated fibers. (http://www.uptodate.com/contents/hereditary-sensory-and-autonomic-neuropathies).

Molecular information
External links
    Disease synonyms
    hereditary sensory and autonomic neuropathy
    hereditary sensory neuropathy
    HSAN
    HSN
    HSN/HSAN
    neuropathy, hereditary sensory
    Ortholog Information
    Human gene(s) in FlyBase
      Other mammalian ortholog(s) used
        D. melanogaster Gene Information (0)
        Other Genes Used: Viral, Bacterial, Synthetic (0)
          Summary of Physical Interactions (0 groups)
          Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
          Alleles Representing Disease-Implicated Variants
          Genetic Tools, Stocks and Reagents
          Sources of Stocks
          Contact lab of origin for a reagent not available from a public stock center.
          Bloomington Stock Center Disease Page
          Related mammalian, viral, bacterial, or synthetic transgenes
          Allele
          Transgene
          Publicly Available Stocks
          Selected Drosophila transgenes
          Allele
          Transgene
          Publicly Available Stocks
          RNAi constructs available
          Allele
          Transgene
          Publicly Available Stocks
          Selected Drosophila classical alleles
          Allele
          Allele class
          Mutagen
          Publicly Available Stocks
          References (3)