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Hereditary Sensory and Autonomic Neuropathies (HSAN)

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)
Also Known As:
HSAN; Congenital Insensitivity to Pain with Anhidrosis; Hereditary Sensory Neuropathy; Neuropathy, Hereditary Sensory; Insensitivity to Pain with Anhidrosis, Congenital; Acroosteolysis, Giaccai Type; Acroosteolysis, Neurogenic; Familial Dysautonomia, Type 2; Familial Dysautonomia, Type II; Giaccai Type Acroosteolysis; HSAN (Hereditary Sensory Autonomic Neuropathy); HSAN 1; HSAN 4; HSAN 5; HSAN I; HSAN IV; HSAN V; HSAN2; HSAN5; HSANII; Hereditary Sensory And Autonomic Neuropathy IV; Hereditary Sensory Autonomic Neuropathy, Type 1; Hereditary Sensory Autonomic Neuropathy, Type 2; Hereditary Sensory Autonomic Neuropathy, Type 4; Hereditary Sensory Autonomic Neuropathy, Type 5; Hereditary Sensory Neuropathy Type 1; Hereditary Sensory Neuropathy Type I; Hereditary Sensory Neuropathy Type Ia; Hereditary Sensory Radicular Neuropathy; Hereditary Sensory Radicular Neuropathy, Recessive Form; Hereditary Sensory and Autonomic Neuropathy 4; Hereditary Sensory and Autonomic Neuropathy Type 1; Hereditary Sensory and Autonomic Neuropathy Type 2; Hereditary Sensory and Autonomic Neuropathy Type I; Hereditary Sensory and Autonomic Neuropathy Type II; Hereditary Sensory and Autonomic Neuropathy Type IV; Hereditary Sensory and Autonomic Neuropathy Type V; Hereditary Sensory and Autonomic Neuropathy, Type 4; Hereditary Sensory and Autonomic Neuropathy, Type 5; Insensitivity to Pain, Congenital, with Anhidrosis; Neurogenic Acroosteolysis; Neuropathy Hereditary Sensory Radicular, Autosomal Dominant; Neuropathy Hereditary Sensory and Autonomic Type 1; Neuropathy, Congenital Sensory; Neuropathy, Congenital Sensory, with Anhidrosis; Neuropathy, Hereditary Sensory And Autonomic, Type I; Neuropathy, Hereditary Sensory And Autonomic, Type V; Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant; Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive; Neuropathy, Hereditary Sensory, Type I; Neuropathy, Progressive Sensory, Of Children; Acroosteolyses, Neurogenic; Congenital Sensory Neuropathies; Congenital Sensory Neuropathy; HSANs (Hereditary Sensory Autonomic Neuropathy); HSN Type IIs; Hereditary Sensory Neuropathies; Neurogenic Acroosteolyses; Neuropathies, Congenital Sensory; Neuropathies, Hereditary Sensory; Sensory Neuropathies, Congenital; Sensory Neuropathies, Hereditary; Sensory Neuropathy, Congenital; Type I, HSAN; Type I, HSN; Type IV, HSAN; HSAN Type I; HSAN Type II; HSAN Type IV; HSAN Type V; HSN Type I; HSN Type II; Neuropathies, Hereditary Sensory and Autonomic; Pain Insensitivity with Anhidrosis, Congenital; Sensory Neuropathy, Hereditary; Sensory and Autonomic Neuropathies, Hereditary
Networked: 326 relevant articles (4 outcomes, 17 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Pain (Aches)
2. Refsum Disease (Refsum's Disease)
3. Brown-Vialetto-Van Laere syndrome
4. Neurogenic Arthropathy
5. Hereditary Sensory and Autonomic Neuropathies (HSAN)

Experts

1. Hornemann, Thorsten: 13 articles (11/2022 - 04/2009)
2. Timmerman, Vincent: 12 articles (01/2019 - 10/2002)
3. Auer-Grumbach, Michaela: 10 articles (01/2019 - 10/2002)
4. Capsoni, Simona: 9 articles (01/2021 - 01/2010)
5. Levy, Jacov: 9 articles (03/2013 - 09/2002)
6. Reilly, Mary M: 8 articles (01/2022 - 08/2003)
7. Cattaneo, Antonino: 8 articles (01/2021 - 01/2010)
8. Penno, Anke: 8 articles (01/2021 - 04/2009)
9. Indo, Y: 8 articles (10/2012 - 01/2000)
10. Kothary, Rashmi: 7 articles (02/2020 - 09/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hereditary Sensory and Autonomic Neuropathies:
1. Serine (L-Serine)FDA Link
2. Riboflavin (Vitamin B2)FDA LinkGeneric
3. Phytanic AcidIBA
4. Pamidronate (Aredia)FDA LinkGeneric
5. Nerve Growth Factor (NGF)IBA
01/01/2018 - "The integration of both TrkA and p75NTR signaling thus appears to regulate neuroplastic effects of NGF in peripheral nociception.SIGNIFICANCE STATEMENT In the present study, we characterized the naturally occurring nerve growth factor NGFR100W mutant that is associated with hereditary sensory and autonomic neuropathy type V. We have demonstrated for the first time that NGFR100W retains trophic support capability through TrkA, but fails to engage p75NTR signaling pathways. "
01/01/2010 - "In order to gain insights into the functional consequences of the HSAN V NGF mutation, two sets of hNGFR100 mutants were expressed in Escherichia coli and purified, as mature NGF or proNGF, for in vitro receptor binding studies. "
12/01/2023 - "The data expand the spectrum of disease-relevant alterations in CIP/HSAN, including novel variants in previously rarely recognized entities such as ATL3-, FLVCR1- and NGF-associated neuropathies and previously under-recognized mutation types such as larger deletions. "
01/01/2023 - "However, to date, there is no available mouse model to properly understand how the NGF-TrkA system can lead to pathological phenotypes that are distinctive of HSAN IV. Here, we report the generation of a knock-in mouse line carrying the HSAN IV TrkAR649W mutation. "
12/04/2019 - "To test this hypothesis and provide a mechanistic basis to the HSAN V phenotype, we generated transgenic mice harboring the human 661C>T mutation in the Ngf gene and studied both males and females. "
6. 3-(2-carboxyindol-3-yl)propionic acidIBA
7. Serine C-PalmitoyltransferaseIBA
8. Receptor Protein-Tyrosine Kinases (Tyrosine Kinase Receptors)IBA
9. SphingolipidsIBA
10. Nerve Growth Factor Receptor (Nerve Growth Factor Receptor, Low Affinity)IBA

Therapies and Procedures

1. Therapeutics
2. Knee Replacement Arthroplasty (Total Knee Replacement)
3. Surgical Amputation (Amputations)
4. Anesthesia
5. General Anesthesia