FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: neuropathy, hereditary sensory, type IIC
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General Information
Name
neuropathy, hereditary sensory, type IIC
FlyBase ID
FBhh0000877
Overview

This report describes neuropathy, hereditary sensory, type IIC (HSN2C), which is a subtype of neuropathy, hereditary sensory and autonomic; this disease exhibits autosomal recessive inheritance. The human gene implicated in this disease is the kinesin gene KIF1A, which encodes an anterograde motor protein that transports membranous organelles and synaptic vesicle precursors along axonal microtubules. See the report for 'synaptic dysfunction, KIF1-related' (FBhh0000875) for information on experimental results using Drosophila models of this and related diseases.

[updated Aug. 2018 by FlyBase; FBrf0222196]

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

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).

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).

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]

Specific Disease Summary: neuropathy, hereditary sensory, type IIC
OMIM report

[NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C](https://omim.org/entry/614213)

Human gene(s) implicated

[KINESIN FAMILY MEMBER 1A; KIF1A](https://omim.org/entry/601255)

Symptoms and phenotype

HSAN2 is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. [Gene Reviews, Hereditary Sensory and Autonomic Neuropathy Type II; 2018.08.21]

HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011; pubmed:21820098). [from MIM:614213; 2018.08.21]

Genetics

Hereditary sensory neuropathy type IIC (HSN2C) is caused by homozygous or compound heterozygous mutation in the KIF1A gene. [from MIM:614213; 2018.08.21]

Cellular phenotype and pathology
Molecular information

KIF1A encodes a member of the kinesin family; it functions as an anterograde motor protein that transports membranous organelles and synaptic vesicle precursors along axonal microtubules. [Gene Cards, KIF1A; 2018.08.22]

External links
Disease synonyms
hereditary sensory and autonomic neuropathy type IIC
hereditary sensory neuropathy type IIC
HSN2C
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)
    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
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        Selected Drosophila transgenes
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        RNAi constructs available
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        Selected Drosophila classical alleles
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        References (3)