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Details
Link-It Detail - Disease - Neuroacanthocytosis
Debug Stats
  • ### Total Build Time: 126 ms 25.441 KB
  • CONCEPT_NAME gt=10 ms Completed: 9 ms rowSize= 336 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 448 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_RELATIONSHIPS gt=88 ms Completed: 88 ms rowSize= 13.066 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 2.551 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.153 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Neuroacanthocytosis C0393576
Definition (1)
An inherited autosomal disorder that is characterized by neurodegeneration; orofacial and buccal DYSKINESIAS; CHOREA; and thorny-looking red cells (ACANTHOCYTES). This disorder is due to mutations of chorein which is important in protein trafficking and is encoded by Vps13a on chromosome 9q21.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Chorea C0008489
img Heredodegenerative Disorders, Nervous System C0751870
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Chorea C0008489
img Nervous System Diseases C0027765img Neurologic Manifestations C00278545img Chorea C0008489
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370886img Chorea C0008489
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248514img Heredodegenerative Disorders, Nervous System C0751870
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Heredodegenerative Disorders, Nervous System C0751870
Relationships (40)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 1
diso_​to_​diso : 33
diso_​to_​phen : 1
diso_​to_​phys : 2


Relationships:
none : 5
is_​associated_​anatomic_​site_​of : 1
manifestation_​of : 33
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN27img genetic aspects C0017399
DISO_to_DISO19img Complication Aspects C1171258
DISO_to_CHEM12img Transport Proteins, Vesicular C1135986
DISO_to_PHYS8img Mutation C0026882
DISO_to_ANAT7img In Blood C0005768
DISO_to_ANATmanifestation_ofimg Acanthocytes C0000886
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_DISOmanifestation_ofimg Absent reflex C0234146
DISO_to_DISOmanifestation_ofimg Age of onset 23-59 years C1860222
DISO_to_DISOmanifestation_ofimg Aggression C0001807
DISO_to_DISOmanifestation_ofimg CPK INCREASED C0151576
DISO_to_DISOmanifestation_ofimg Caudate atrophy C1858116
DISO_to_DISOmanifestation_ofimg Caused by mutation in the vacuolar protein sorting 13A gene (VPS13A, 605978.0001) C3277722
DISO_to_DISOmanifestation_ofimg Change in personality C0240735
DISO_to_DISOpermuted_term_ofimg Chorea Acanthocytosis Syndrome C0393576
DISO_to_DISOmanifestation_ofimg Clinical variability C1842176
DISO_to_DISOmanifestation_ofimg Decreased Reflex C0151888
DISO_to_DISOmanifestation_ofimg Deglutition Disorders C0011168
DISO_to_DISOmanifestation_ofimg Dementia (in some patients) C3277719
DISO_to_DISOmanifestation_ofimg Drooling C0013132
DISO_to_DISOmanifestation_ofimg Dysarthria C0013362
DISO_to_DISOmanifestation_ofimg Dystonia C0013421
DISO_to_DISOmanifestation_ofimg Limb muscle weakness C1835991
DISO_to_DISOmanifestation_ofimg Limb muscular atrophy C3277720
DISO_to_DISOmanifestation_ofimg Lingual-Facial-Buccal Dyskinesia C0152115
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanVPS13A23230vacuolar protein sorting 13 homolog A (S. cerevisiae)
img GENERIF, Score=1000, Pubmed Id: 15918062, UMLKSK CUI: C0393576
HumanTGM27052transglutaminase 2
img GENERIF, Score=734, Pubmed Id: 12387450, UMLKSK CUI: C0393576
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0393576Neuroacanthocytosis0self