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Hereditary Sensory and Autonomic Neuropathies (HSAN)

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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; Familial Dysautonomia, Type 2; Giaccai Type Acroosteolysis; HSAN (Hereditary Sensory Autonomic Neuropathy); HSAN 1; HSAN 4; 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 Radicular Neuropathy; Hereditary Sensory Radicular Neuropathy, Recessive Form; Hereditary Sensory and Autonomic Neuropathy 4; Hereditary Sensory and Autonomic Neuropathy Type 2; 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; Acroosteolyses, Neurogenic; Acroosteolysis, Giaccai Type; Acroosteolysis, Neurogenic; Congenital Sensory Neuropathies; Congenital Sensory Neuropathy; HSANs (Hereditary Sensory Autonomic Neuropathy); Hereditary Sensory Neuropathies; Neurogenic Acroosteolyses; Neuropathies, Congenital Sensory; Neuropathies, Hereditary Sensory; Sensory Neuropathies, Congenital; Sensory Neuropathies, Hereditary; Sensory Neuropathy, Congenital; Type Acroosteolysis, Giaccai; Type I, HSAN; Type I, HSN; Type IV, HSAN; Type V, 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: 180 relevant articles (1 outcomes, 8 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Pain (Aches)
2.	Neurogenic Arthropathy
3.	Mental Retardation (Idiocy)
4.	Hereditary Sensory and Autonomic Neuropathies (HSAN)
5.	Hypohidrosis

Experts

1.	Levy, Jacov: 9 articles (03/2013 - 09/2002)
2.	Timmerman, Vincent: 8 articles (05/2013 - 10/2002)
3.	Indo, Y: 8 articles (10/2012 - 01/2000)
4.	Indo, Yasuhiro: 6 articles (05/2015 - 05/2002)
5.	Auer-Grumbach, Michaela: 6 articles (05/2013 - 10/2002)
6.	Hornemann, Thorsten: 6 articles (05/2013 - 04/2009)
7.	Penno, Anke: 5 articles (12/2011 - 04/2009)
8.	Houlden, Henry: 5 articles (02/2011 - 08/2003)
9.	Pinsk, Vered: 5 articles (03/2009 - 09/2002)
10.	Mardy, S: 5 articles (10/2001 - 01/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hereditary Sensory and Autonomic Neuropathies:

1.	pamidronate (APD)FDA LinkGeneric 08/01/1999 - "We describe the efficacy of pamidronate in treating a patient with Charcot's joint, due to hereditary sensory neuropathy, that caused loss of pain sensation. "
2.	Nerve Growth Factor (NGF)IBA 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. " 02/01/2014 - "Unravelling the mechanisms that underlie the differences between HSAN IV and V could assist in better understanding NGF biology. " 02/01/2014 - "Recently a homozygous missense mutation (R100W) in the NGF gene has been identified in HSAN V patients. " 10/01/2012 - "Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis." 02/01/2011 - "The only previously reported hereditary sensory neuropathy caused by an NGF mutation, c.661C>T (HSAN5), and the pathology caused by biallelic mutations in the TRKA gene (NTRK1) (HSAN4), share only some clinical features. "
3.	3-(2-carboxyindol-3-yl)propionic acidIBA 05/01/2015 - "Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare autosomal recessively inherited disorder. " 05/01/2015 - "Congenital insensitivity to pain with anhidrosis (CIPA) is caused by mutations in the NKTR1 gene. " 09/01/2014 - "Congenital insensitivity to pain with anhidrosis (CIPA) is a rare disorder with various skeletal complications; thus, a compilation of data on affected patients could provide a valuable resource for the management of this disease. " 11/01/2013 - "Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal-recessive disease caused by mutations in the NTRK1 gene. " 01/01/2013 - "Congenital insensitivity to pain with anhidrosis (CIPA) is a congenital autonomic sensory neuropathy. "
4.	Protein-Tyrosine Kinases (Tyrosine Kinase)IBA 01/01/2011 - "A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis." 10/01/2004 - "Genetic analysis of her TRKA gene, which is responsible for HSAN IV, revealed two novel missense mutations in the tyrosine kinase domain. " 05/01/1999 - "A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis." 05/01/1999 - "Recently, three mutations in the tyrosine kinase domain of TRKA have been reported in patients with congenital insensitivity to pain with anhidrosis, which is an autosomal recessive disorder characterized by recurrent fever due to absence of sweating, no reaction to noxious stimuli, self-mutilating behavior, and mental retardation. " 12/01/2010 - "Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV) is a rare autosomal recessive disorder caused by a defect in neurotrophic tyrosine kinase receptor and nerve growth factor, as reported in previous studies. "
5.	Nerve Growth Factor Receptor (Nerve Growth Factor Receptor, Low Affinity)IBA 08/01/1996 - "Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis." 01/01/2000 - "The Gly571Arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor." 06/19/2000 - "Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies." 02/01/2000 - "Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor(Trk A)-related disorder." 01/01/2013 - "Congenital insensitivity to pain with anhidrosis (CIPA) is a rare inherited disorder of the peripheral nervous system resulting from mutations in neurotrophic tyrosine kinase receptor 1 gene (NTRK1), which encodes the high-affinity nerve growth factor receptor TRKA. "
6.	Monoclonal AntibodiesIBA 10/01/1986 - "Immunological studies with two monoclonal antibodies HSAN 1-2 and UJ13A were performed on 56 occasions. " 01/01/1988 - "Simple indirect immunofluorescence staining with anti-neuroblastoma monoclonal antibodies (UJ13A and HSAN 1-2) allows a final detection of about 1% malignant cells in the BM, and 1% when cells are gathered in clumps. " 11/01/1986 - "Human neuroblastoma cell lines were labeled with the supravital DNA stain Hoechst 33342, seeded into normal bone marrow, incubated with monoclonal antibodies recognizing neuroblastoma cell surface antigens (HSAN 1.2, antibody 459, antibody 390, BA-1, and Leu-7), and then mixed with magnetic microspheres coated with goat anti-mouse immunoglobulin. "
7.	protein N-terminal acetyltransferaseIBA 03/23/2012 - "Human protein N-terminal acetyltransferase hNaa50p (hNAT5/hSAN) follows ordered sequential catalytic mechanism: combined kinetic and NMR study."
8.	Phosphotransferases (Kinase)IBA 12/01/2013 - "The WNKs and many of the cation-coupled Cl(-) cotransporters they regulate are highly expressed in the central nervous system and recent work suggests that WNK dysfunction may have a role in the development of autism, schizophrenia and hereditary sensory and autonomic neuropathy Type 2. Finally, the WNK-sterile 20 kinase signalling axis represents an evolutionarily ancient mechanism for maintaining osmotic homeostasis, but a rapidly expanding body of evidence also shows a role in immunity and cellular regulation. " 09/01/2015 - "It has been reported that the defect in the NTRK1 gene encoding tropomyosin-related kinase A (TrkA) can cause congenital insensitivity to pain with anhidrosis. " 04/01/2005 - "Hereditary sensory and autonomic neuropathy type IV (HSAN IV) is caused by mutations in the tyrosin kinase A (TrkA) gene, encoding for the high-affinity receptor of nerve growth factor (NGF). " 09/01/2015 - "Our findings imply that the genetic variations of the nerve growth factor-tropomyosin-related kinase A pathway play an important role in congenital insensitivity to pain with anhidrosis. " 01/01/2013 - "Congenital insensitivity to pain with anhidrosis is an autosomal recessive disorder caused by mutations in the neurotrophic tyrosine receptor kinase 1 (NTRK1) gene, which encodes the receptor for nerve growth factor. "
9.	Serine C-PalmitoyltransferaseIBA 10/07/2015 - "Hereditary sensory neuropathy type 1 is an autosomal-dominant disorder that leads to a sensory neuropathy due to mutations in the serine palmitoyltransferase (SPT) enzyme. " 07/01/2014 - "Mutations in serine palmitoyltransferase long chain subunit 1 (SPTLC1) cause the typical length-dependent axonal degeneration hereditary sensory neuropathy type 1 (HSN1). " 02/01/2014 - "The major underlying causes of HSAN I are mutations in SPTLC1, which encodes the first subunit of serine palmitoyltransferase (SPT). " 05/01/2013 - "Mutations in the serine palmitoyltransferase subunit 1 (SPTLC1) gene are the most common cause of hereditary sensory neuropathy type 1 (HSN1). " 01/01/2013 - "Glial knockdown of lace, a subunit of the serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathies in humans, resulted in ensheathment defects of peripheral nerves in Drosophila. "
10.	tyrosine receptor (receptor, tyrosine)IBA 01/01/2013 - "Congenital insensitivity to pain with anhidrosis is an autosomal recessive disorder caused by mutations in the neurotrophic tyrosine receptor kinase 1 (NTRK1) gene, which encodes the receptor for nerve growth factor. " 11/01/2010 - "Congenital insensitivity to pain with anhidrosis is a genetic disorder due to loss-of-function mutations in the NTRK1 gene encoding TrkA, a receptor tyrosine kinase for NGF. " 08/01/2002 - "We report a girl with clinical and neurophysiological findings consistent with a diagnosis of HSAN-V. We sequenced her TRKA gene, encoding a receptor tyrosine kinase for nerve growth factor and responsible for HSAN-IV, but we could not detect any mutation. " 02/22/2002 - "Novel pathogenic mechanisms of congenital insensitivity to pain with anhidrosis genetic disorder unveiled by functional analysis of neurotrophic tyrosine receptor kinase type 1/nerve growth factor receptor mutations." 09/01/2000 - "Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis."

Therapies and Procedures

1.	Amputation 01/01/1985 - "This study concerns two children, from the same otherwise normal family, presenting progressive spontaneous amputations of the limbs, suggesting peripheral hereditary sensory neuropathy. " 02/01/2014 - "Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disease characterized by prominent sensory impairment, resulting in foot ulcers or amputations and has a juvenile to adult onset. " 09/01/2009 - "The prevention of cutaneous (ulcerations), bone, and amputation complications is very important in patients with hereditary sensory and autonomic neuropathies, because of the severity of the sensory disorders." 08/01/2012 - "The hereditary sensory and autonomic neuropathies (HSAN, also known as the hereditary sensory neuropathies) are a clinically and genetically heterogeneous group of disorders, characterised by a progressive sensory neuropathy often complicated by ulcers and amputations, with variable motor and autonomic involvement. " 03/01/2006 - "In this report we present a case of HSAN type II with general absence of pain and self amputations and leprosy-like damage of extremities which was suspected to be phagocytic immunodeficiency due to past history of repeated ulcer and abscess formation."
2.	Anesthesia 10/01/2013 - "It is imperative for anesthesia providers to understand which type of HSAN their patient experiences and to conduct a thorough preoperative interview because a different interpretation of sensory loss may occur in each HSAN category. " 10/01/2010 - "Risk of aspiration during anesthesia in patients with congenital insensitivity to pain with anhidrosis: case reports and review of the literature." 02/01/2007 - "Anesthesia for congenital insensitivity to pain with anhidrosis." 03/01/1998 - "We gave anesthesia twice to a 4-year-old boy with congenital sensory neuropathy with anhydrosis. " 03/01/1998 - "[Anesthesia for a child with congenital sensory neuropathy with anhydrosis]."
3.	General Anesthesia 11/01/2015 - "Anesthetic Management of Patients with Congenital Insensitivity to Pain with Anhidrosis: A Retrospective Analysis of 358 Procedures Performed Under General Anesthesia." 03/01/2006 - "Heart rate variability in a child with hereditary sensory autonomic neuropathy 2 (HSAN 2) during general anesthesia with propofol and fentanyl."
4.	Investigational Therapies (Experimental Therapy) 01/01/2015 - "Molecular pathogenesis, experimental therapy and genetic counseling in hereditary sensory neuropathies."
5.	External Fixators 01/01/2001 - "This report describes a patient with congenital sensory neuropathy with anhidrosis (CSNA) with destructive arthropathy of the left ankle joint that was treated with ankle arthrodesis and tibial lengthening, using an Ilizarov external fixator. "