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Details
Link-It Detail - Disease - Giant Axonal Neuropathy
Debug Stats
  • ### Total Build Time: 3 ms 24.710 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 399 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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Disease (2)
Giant Axonal Neuropathy C1850386
GIANT AXONAL NEUROPATHY 1
Definition (1)
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).
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Hereditary Sensory and Motor Neuropathy C0027888
img Peripheral Nervous System Diseases C0031117
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Hereditary Sensory and Motor Neuropathy C0027888
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Hereditary Sensory and Motor Neuropathy C0027888
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Hereditary Sensory and Motor Neuropathy C0027888
img Nervous System Diseases C0027765img Nervous System Malformations C04975524img Hereditary Sensory and Motor Neuropathy C0027888
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278686img Hereditary Sensory and Motor Neuropathy C0027888
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278684img Peripheral Nervous System Diseases C0031117
Relationships (30)

Relation Types:
diso_​to_​anat : 2
diso_​to_​diso : 27
diso_​to_​phen : 1


Relationships:
none : 1
alias_​of : 1
is_​associated_​anatomic_​site_​of : 1
is_​primary_​anatomic_​site_​of_​disease : 1
manifestation_​of : 26
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN4img genetic aspects C0017399
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Peripheral Nerves C0031119
DISO_to_DISOmanifestation_ofimg Areflexia in lower limbs C1834537
DISO_to_DISOmanifestation_ofimg Caused by mutation in the gigaxonin gene (GAN, 605379.0001) C2678462
DISO_to_DISOmanifestation_ofimg Cerebellar signs C0742038
DISO_to_DISOmanifestation_ofimg Childhood onset C1837352
DISO_to_DISOmanifestation_ofimg Clubfoot C0009081
DISO_to_DISOmanifestation_ofimg Curly hair (not a consistent finding) C1850392
DISO_to_DISOmanifestation_ofimg Distal limb muscle atrophy due to peripheral neuropathy C1864697
DISO_to_DISOmanifestation_ofimg Distal limb muscle weakness due to peripheral neuropathy C1864696
DISO_to_DISOmanifestation_ofimg Distal sensory impairment C1836340
DISO_to_DISOmanifestation_ofimg Dysarthria C0013362
DISO_to_DISOmanifestation_ofimg Flatfoot C0016202
DISO_to_DISOmanifestation_ofimg Foot Deformities C0016506
DISO_to_DISOalias_ofimg GIANT AXONAL NEUROPATHY 1 C1850386
DISO_to_DISOmanifestation_ofimg Gait, Drop Foot C0427149
DISO_to_DISOmanifestation_ofimg Hyperreflexia C0151889
DISO_to_DISOmanifestation_ofimg Hyporeflexia in lower limbs C1834696
DISO_to_DISOmanifestation_ofimg Kinky hair (not a consistent finding) C1850391
DISO_to_DISOmanifestation_ofimg Mental retardation (rare) C1850387
DISO_to_DISOmanifestation_ofimg Nystagmus C0028738
DISO_to_DISOmanifestation_ofimg Pyramidal sign C0234132
DISO_to_DISOmanifestation_ofimg See also autosomal dominant giant axonal neuropathy (610100) C1850394
DISO_to_DISOmanifestation_ofimg Sensory and motor axonal neuropathy C1850389
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1850386Giant Axonal Neuropathy0self