Hereditary sensory and autonomic neuropathy

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Hereditary sensory and autonomic neuropathy Classification and external resources
OMIM	162400 201300 223900 256800 608654
DiseasesDB	32501 32096 11631 32097 32610
MeSH	D009477

Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition used to describe one of five diseases^[1] which inhibit sensation.

They are less common than Charcot-Marie-Tooth disease.^[2]

[edit] Classification

Type	Gene	Locus
HSAN1	SPTLC1^[3]	9q22.1-q22.3
HSAN2	HSN2^[4]	12p13.33
HSAN3 (Familial dysautonomia)	IKBKAP	9q31
HSAN4 (CIPA)	NTRK1	1q21-q22
HSAN5	NGFB^[5]	1p13.1

[edit] References

^ eMedicine - Autonomic Neuropathy : Article by Cory Toth.
^ Houlden H, Blake J, Reilly MM (October 2004). "Hereditary sensory neuropathies". Curr. Opin. Neurol. 17 (5): 569–77. PMID 15367861.
^ Houlden H, King R, Blake J, et al (February 2006). "Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I)". Brain 129 (Pt 2): 411–25. doi:10.1093/brain/awh712. PMID 16364956.
^ Lafreniere RG, MacDonald ML, Dube MP, et al (May 2004). "Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates". Am. J. Hum. Genet. 74 (5): 1064–73. doi:10.1086/420795. PMID 15060842.
^ Einarsdottir E, Carlsson A, Minde J, et al (April 2004). "A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception". Hum. Mol. Genet. 13 (8): 799–805. doi:10.1093/hmg/ddh096. PMID 14976160.

[edit] External links

Help Roberto: The website of a young boy who cannot feel any pain

v • d • e Nervous system pathology, primarily PNS (G50-G99, 350-359)

Nerve, nerve root and plexus disorders (neuropathy, radiculopathy, plexopathy)	cranial nerve: V (Trigeminal neuralgia) - VII (Facial nerve paralysis, Bell's palsy, Melkersson-Rosenthal syndrome, Central seven) - XI (Accessory nerve disorder) nerve root and plexus: Brachial plexus lesion - Thoracic outlet syndrome - Phantom limb mononeuropathy: upper limb (Carpal tunnel syndrome, Ulnar nerve entrapment, Radial neuropathy) - Causalgia - lower limb (Meralgia paraesthetica, Tarsal tunnel syndrome, Morton's neuroma) - Mononeuritis multiplex

Polyneuropathies and other disorders of the PNS	hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease, Dejerine Sottas syndrome, Refsum's disease) Guillain-Barré syndrome - Alcoholic polyneuropathy

Diseases of myoneural junction	autoimmune: Myasthenia gravis - Lambert-Eaton myasthenic syndrome

Diseases of muscle (myopathy)/ neuromuscular disease	Muscular dystrophy myotonic (Myotonic dystrophy, Myotonia congenita, Thomsen disease, Neuromyotonia, Paramyotonia congenita) congenital myopathy (Centronuclear myopathy, Nemaline myopathy, Central core disease, Zaspopathy) Mitochondrial myopathy periodic paralysis: Hypokalemic - Hyperkalemic

Dysautonomia/ Autonomic neuropathy	Hereditary sensory and autonomic neuropathy (Familial dysautonomia) - Horner's syndrome - Multiple system atrophy (Shy-Drager syndrome, Olivopontocerebellar atrophy)