DISEASE: Hereditary sensory and autonomic neuropathy
Entry
H00265 Disease
Name
Hereditary sensory and autonomic neuropathy
Subgroup
Familial dysautonomia [DS:H01987] Congenital pain insensitivity with anhidrosis [DS:H01836] Hereditary sensory neuropathy (HSN) Hereditary sensory neuropathy with spastic paraplegia [DS:H02380]
Description
Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous group of disorders of low prevalence. They are characterized by neuronal atrophy and degeneration, predominantly affecting peripheral sensory and autonomic neurons. Hallmark features are progressive sensory loss, chronic skin ulcers, and other skin abnormalities. Autonomic features vary between different subgroups.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Disorders of nerve root, plexus or peripheral nerves
Hereditary neuropathy
8C21 Hereditary sensory or autonomic neuropathy
H00265 Hereditary sensory and autonomic neuropathy
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06532 Autophagy
H00265 Hereditary sensory and autonomic neuropathy
nt06541 Cytoskeleton in neurons
H00265 Hereditary sensory and autonomic neuropathy
Endocrine system
nt06325 Hormone/cytokine signaling
H00265 Hereditary sensory and autonomic neuropathy
Rotthier A, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Schlotter-Weigel B, Loscher W, Vondracek P, Seeman P, De Jonghe P, Van Dijck P, Jordanova A, Hornemann T, Timmerman V
Title
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.
Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell SA, Nurnberg G, Nurnberg P, De Jonghe P, Gal A, Kaether C, Timmerman V, Hubner CA
Title
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D
Title
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, Barvencik F, Schinke T, Giesselmann S, Beil FT, Pou-Serradell A, Vilchez JJ, Beetz C, Deconinck T, Timmerman V, Kaether C, De Jonghe P, Hubner CA, Gal A, Amling M, Mundlos S, Baets J, Kurth I
Title
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.