| Descriptor in English: | Giant Axonal Neuropathy |
| Descriptor in Spanish: | Neuropatía Axonal Gigante |
| Descriptor in Portuguese: | Neuropatia Axonal Gigante |
| Descriptor in French: | Neuropathie à axones géants |
| Entry term(s): |
Axonal Neuropathy, Giant Axonal Neuropathy, Giant (GAN) Giant Axonal Neuropathy (GAN) Giant Axonal Neuropathy 1 Giant Axonal Neuropathy 1 (GAN1) Neuropathy, Giant Axonal Neuropathy, Giant Axonal (GAN) Neuropathy, Giant Axonal, Autosomal Recessive |
| Tree number(s): |
C10.500.300.490 C10.574.500.495.490 C10.668.829.325 C10.668.829.800.300.490 C16.131.666.300.490 C16.320.400.375.490 |
| Scope note: | Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS). |
| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
| History Note: | 2010 |
| DeCS UI: | 53516 |
| Descriptor UI: | D056768 |
| Date Established: | 2010/01/01 |
| Date of Entry: | 2009/07/06 |
| Revision Date: | 2013/07/08 |
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Giant Axonal Neuropathy
- Preferred
| Concept UI |
M0529104 |
| Scope note | Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS). |
| Preferred term | Giant Axonal Neuropathy |
| Entry term(s) |
Axonal Neuropathy, Giant Axonal Neuropathy, Giant (GAN) Giant Axonal Neuropathy (GAN) Giant Axonal Neuropathy 1 Giant Axonal Neuropathy 1 (GAN1) Neuropathy, Giant Axonal Neuropathy, Giant Axonal (GAN) Neuropathy, Giant Axonal, Autosomal Recessive |
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