Neuropathy, Hereditary Sensory and Autonomic, Type II

Alternative Names

  • HSAN2
  • HSAN II
  • Neuropathy, Hereditary Sensory, Type II
  • HSN2
  • HSN II
  • Acroosteolysis, Neurogenic
  • Acroosteolysis, Giaccai Type
  • Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive
  • Morvan Disease
  • Neuropathy, Progressive Sensory, of Children
  • Neuropathy, Congenital Sensory
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WHO-ICD-10 version:2010

Diseases of the nervous system

Polyneuropathies and other disorders of the peripheral nervous system

OMIM Number

201300

Mode of Inheritance

Autosomal recessive

Gene Map Locus

12p13.33

Description

HSAN2A is a peripheral neuropathy that affects sensory neurons and results in the impaired sensation of pain, temperature, position and touch in the distal extremeties. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
201300.1.1LebanonMaleNo Somatic sensory dysfunction ; Peripher...NM_001184985.1:c.2971C>THomozygousAutosomal, RecessiveRoddier et al, 2005
201300.2.1LebanonMaleYesYes Somatic sensory dysfunction; Pain insen...NM_018979.4:c.2140-2489delHomozygousAutosomal, RecessiveRiviere et al, 2004 Proband
201300.2.2LebanonMaleYesYes Somatic sensory dysfunction; Pain inse...NM_018979.4:c.2140-2489delHomozygousAutosomal, RecessiveRiviere et al, 2004 Paternal uncle of 20...
201300.2.3LebanonFemaleYesYes Somatic sensory dysfunction; Pain ins...NM_018979.4:c.2140-2489delHomozygousAutosomal, RecessiveRiviere et al, 2004 Maternal aunt of 201...
201300.2.4LebanonMaleYesNo Somatic sensory dysfunction; Pain i...NM_018979.4:c.2140-2489delHomozygousAutosomal, RecessiveRiviere et al, 2004 Relative of 201300.2...
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