giant axonal neuropathy

Preferred Label : giant axonal neuropathy;

MeSH definition : 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).;

MeSH synonym : axonal neuropathy, giant (GAN); neuropathy, giant axonal; neuropathy, giant axonal (GAN); axonal neuropathy, giant; giant axonal neuropathy (GAN);

CISMeF synonym : axonal neuropathies, giant; axonal neuropathies, giant (GAN); giant axonal neuropathies; giant axonal neuropathies (GAN); neuropathies, giant axonal; neuropathies, giant axonal (GAN); giant axonal neuropathy 1;

MeSH hyponym : Neuropathy, Giant Axonal, Autosomal Recessive; Giant Axonal Neuropathy 1 (GAN1);

Details

Origin ID

D056768;

UMLS CUI

C5200933;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Giant axonal neuropathy [ICD-11 More detail]
- Giant axonal neuropathy [OMIM phenotypic series]
- N-Acetyl Glucosamide Measurement [NCIt concept]
- NBAS wt Allele [NCIt concept]
- Neuroblastoma-Amplified Sequence [NCIt concept]
Currated CISMeF NLP mapping
- Giant Axonal Neuropathy [NCIt concept]
- Giant axonal neuropathy [PASCAL descriptor]
- Giant axonal neuropathy [ORDO Disease]
- Giant axonal neuropathy (disorder) [SNOMED CT concept]
- Giant axonal neuropathy 1, autosomal recessive [OMIM Phenotype]
- giant axonal neuropathy [Disease (Nov.)]
- giant axonal neuropathy 1 [DO Concept]
DO Cross reference
- giant axonal neuropathy 1 [DO Concept]
Manual NTBT mappings (CISMeF)
- Genetic peripheral neuropathy [ORDO Disease]
ORDO relation(s)
- Giant axonal neuropathy [ORDO Disease]
Record concept(s)
- Giant Axonal Neuropathy 1 [MeSH concept]
- giant axonal neuropathy [MeSH concept]
Related MeSH Supplementary Concept(s)
- giant axonal neuropathy, autosomal dominant [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Giant Axonal Neuropathy [NCIt concept]
- Giant axonal neuropathy [ORDO Disease]
- Giant axonal neuropathy [PASCAL descriptor]
- Giant axonal neuropathy (disorder) [SNOMED CT concept]
- Giant axonal neuropathy 1, autosomal recessive [OMIM Phenotype]
- giant axonal neuropathy [Disease (Nov.)]
- giant axonal neuropathy 1 [DO Concept]

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