MeSH Browser

MeSH Heading: Giant Axonal Neuropathy
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
Unique ID: D056768
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D056768
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).
Entry Term(s): Giant Axonal Neuropathy (GAN); Giant Axonal Neuropathy 1; Giant Axonal Neuropathy 1 (GAN1); Neuropathy, Giant Axonal; Neuropathy, Giant Axonal, Autosomal Recessive
Previous Indexing: Peripheral Nervous System Diseases (1972-2009)
Public MeSH Note: 2010
History Note: 2010
Date Established: 2010/01/01
Date of Entry: 2009/07/06
Revision Date: 2020/05/27

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

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).
Terms: Giant Axonal Neuropathy Preferred Term
Term UI T734360
Date02/02/2009
LexicalTag NON
ThesaurusID; Giant Axonal Neuropathy (GAN)
Term UI T746555
Date02/25/2009
LexicalTag NON
ThesaurusID; Neuropathy, Giant Axonal
Term UI T734414
Date02/03/2009
LexicalTag NON
ThesaurusID

Giant Axonal Neuropathy MeSH Descriptor Data 2024