Medical Subject Headings

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/MESH/D009477 http://purl.bioontology.org/ontology/MESH/D009477
Preferred Name	Hereditary Sensory and Autonomic Neuropathies
Definitions	A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)
Synonyms	Sensory Neuropathies, Congenital Neuropathy, Congenital Sensory, with Anhidrosis Sensory Neuropathies, Hereditary Hereditary Sensory and Autonomic Neuropathy Type I Sensory and Autonomic Neuropathies, Hereditary Giaccai Type Acroosteolysis Hereditary Sensory and Autonomic Neuropathy, Type 4 Hereditary Sensory Autonomic Neuropathy, Type 4 Hereditary Sensory Radicular Neuropathy Hereditary Sensory Radicular Neuropathy, Recessive Form Neuropathy, Congenital Sensory Congenital Insensitivity to Pain with Anhidrosis Neuropathy Hereditary Sensory Radicular, Autosomal Dominant Sensory Neuropathy, Hereditary HSAN2 Hereditary Sensory Neuropathy Type Ia Neuropathy, Hereditary Sensory, Type I HSAN 5 Acroosteolysis, Giaccai Type HSAN Type V Neuropathies, Hereditary Sensory and Autonomic Hereditary Sensory Neuropathy Type 1 Type I, HSAN Familial Dysautonomia, Type II Hereditary Sensory and Autonomic Neuropathy Type 2 Hereditary Sensory and Autonomic Neuropathy Type IV Acroosteolyses, Neurogenic Neuropathy, Hereditary Sensory And Autonomic, Type V HSAN 4 Hereditary Sensory And Autonomic Neuropathy IV HSANs (Hereditary Sensory Autonomic Neuropathy) Hereditary Sensory Neuropathies Congenital Sensory Neuropathy HSAN Type I Hereditary Sensory and Autonomic Neuropathy Type V Neuropathies, Hereditary Sensory Neurogenic Acroosteolysis Hereditary Sensory and Autonomic Neuropathy, Type 5 Hereditary Sensory and Autonomic Neuropathy Type II Neuropathy, Hereditary Sensory And Autonomic, Type I HSN Type I HSAN 1 HSN Type IIs Congenital Sensory Neuropathies Neuropathy, Hereditary Sensory Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant HSAN Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive HSAN Type II HSAN Type IV Neuropathy Hereditary Sensory and Autonomic Type 1 Pain Insensitivity with Anhidrosis, Congenital Hereditary Sensory Autonomic Neuropathy, Type 1 Neuropathy, Progressive Sensory, Of Children HSAN (Hereditary Sensory Autonomic Neuropathy) Type IV, HSAN Hereditary Sensory and Autonomic Neuropathy Type 1 HSAN IV HSAN V HSN Type II Neuropathies, Congenital Sensory Familial Dysautonomia, Type 2 Insensitivity to Pain with Anhidrosis, Congenital Hereditary Sensory and Autonomic Neuropathy 4 HSAN I Acroosteolysis, Neurogenic Neurogenic Acroosteolyses Sensory Neuropathy, Congenital Hereditary Sensory Autonomic Neuropathy, Type 5 HSAN5 Type I, HSN Hereditary Sensory Autonomic Neuropathy, Type 2 HSANII Hereditary Sensory Neuropathy Type I Insensitivity to Pain, Congenital, with Anhidrosis Hereditary Sensory Neuropathy See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)
altLabel	Sensory Neuropathies, Congenital Neuropathy, Congenital Sensory, with Anhidrosis Sensory Neuropathies, Hereditary Hereditary Sensory and Autonomic Neuropathy Type I Sensory and Autonomic Neuropathies, Hereditary Giaccai Type Acroosteolysis Hereditary Sensory and Autonomic Neuropathy, Type 4 Hereditary Sensory Autonomic Neuropathy, Type 4 Hereditary Sensory Radicular Neuropathy Hereditary Sensory Radicular Neuropathy, Recessive Form Neuropathy, Congenital Sensory Congenital Insensitivity to Pain with Anhidrosis Neuropathy Hereditary Sensory Radicular, Autosomal Dominant Sensory Neuropathy, Hereditary HSAN2 Hereditary Sensory Neuropathy Type Ia Neuropathy, Hereditary Sensory, Type I HSAN 5 Acroosteolysis, Giaccai Type HSAN Type V Neuropathies, Hereditary Sensory and Autonomic Hereditary Sensory Neuropathy Type 1 Type I, HSAN Familial Dysautonomia, Type II Hereditary Sensory and Autonomic Neuropathy Type 2 Hereditary Sensory and Autonomic Neuropathy Type IV Acroosteolyses, Neurogenic Neuropathy, Hereditary Sensory And Autonomic, Type V HSAN 4 Hereditary Sensory And Autonomic Neuropathy IV HSANs (Hereditary Sensory Autonomic Neuropathy) Hereditary Sensory Neuropathies Congenital Sensory Neuropathy HSAN Type I Hereditary Sensory and Autonomic Neuropathy Type V Neuropathies, Hereditary Sensory Neurogenic Acroosteolysis Hereditary Sensory and Autonomic Neuropathy, Type 5 Hereditary Sensory and Autonomic Neuropathy Type II Neuropathy, Hereditary Sensory And Autonomic, Type I HSN Type I HSAN 1 HSN Type IIs Congenital Sensory Neuropathies Neuropathy, Hereditary Sensory Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant HSAN Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive HSAN Type II HSAN Type IV Neuropathy Hereditary Sensory and Autonomic Type 1 Pain Insensitivity with Anhidrosis, Congenital Hereditary Sensory Autonomic Neuropathy, Type 1 Neuropathy, Progressive Sensory, Of Children HSAN (Hereditary Sensory Autonomic Neuropathy) Type IV, HSAN Hereditary Sensory and Autonomic Neuropathy Type 1 HSAN IV HSAN V HSN Type II Neuropathies, Congenital Sensory Familial Dysautonomia, Type 2 Insensitivity to Pain with Anhidrosis, Congenital Hereditary Sensory and Autonomic Neuropathy 4 HSAN I Acroosteolysis, Neurogenic Neurogenic Acroosteolyses Sensory Neuropathy, Congenital Hereditary Sensory Autonomic Neuropathy, Type 5 HSAN5 Type I, HSN Hereditary Sensory Autonomic Neuropathy, Type 2 HSANII Hereditary Sensory Neuropathy Type I Insensitivity to Pain, Congenital, with Anhidrosis Hereditary Sensory Neuropathy See more See less
prefLabel	Hereditary Sensory and Autonomic Neuropathies
TH	NLM (1979) OMIM (2013) NLM (2000) UNK (19XX) NLM (2010) GHR (2014) NLM (2014) ORD (2010) See more See less
notation	D009477
DX	19790101
Machine permutation	2000; see NEUROPATHIES, HEREDITARY SENSORY AND AUTONOMIC 1989-1999; see NEUROPATHY, HEREDITARY SENSORY 1979-1988
MN	C10.500.250 C16.320.400.415 C16.131.666.310 C10.668.829.800.175 C10.574.500.493
FX	D000699
MMR	20180630
Mapped from	http://purl.bioontology.org/ontology/MESH/C580162 http://purl.bioontology.org/ontology/MESH/C564296 http://purl.bioontology.org/ontology/MESH/C567738 http://purl.bioontology.org/ontology/MESH/C563870 http://purl.bioontology.org/ontology/MESH/C535624 http://purl.bioontology.org/ontology/MESH/C564090 http://purl.bioontology.org/ontology/MESH/C537956 See more See less
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
HN	2000(1989); use NEUROPATHY, HEREDITARY SENSORY 1979-1988
subClassOf	http://purl.bioontology.org/ontology/MESH/D009421 http://purl.bioontology.org/ontology/MESH/D011115 http://purl.bioontology.org/ontology/MESH/D020271
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
DC	1
MDA	19991108
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D000699
type	http://www.w3.org/2002/07/owl#Class
tui	T047
cui	C0699739 C0020074 C0086405 C0020072 C0027889 C0020075 C0020071 See more See less
AN	do not confuse with HEREDITARY SENSORY AND MOTOR NEUROPATHY; note entry terms for HSAN types: HSAN TYPE III see DYSAUTONOMIA, FAMILIAL is also available
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401 See more See less
TERMUI	T028245 T755149 T818696 T843028 T028244 T824571 T751022 T365291 T365287 T028251 T811628 T751016 T028246 T843031 T028254 T818698 T843029 T841185 T751012 T028252 T841655 T818699 T751017 T751021 T028249 T365290 T751023 T841652 T841654 T028247 T028253 T751024 T811629 T841653 T751014 T843887 T751018 T824572 T365289 T751015 T811624 T028250 T028248 T811626 T811625 T751011 T365288 T751019 T811636 T365286 T843030 T812405 T365295 T818697 T751013 T841649 T811627 T365292 T028255 T841650 See more See less

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