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Term:
neuroacanthocytosis (DOID:0050765)
Annotations: Rat: (2) Mouse: (2) Human: (3) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
3-methylglutaconic aciduria type 3  
Alexander Disease  
Benign Familial Chorea  
Brain-Lung-Thyroid Syndrome  
Canavan disease  
Cerebrocortical Degeneration of Infancy 
childhood spinal muscular atrophy +   
Childhood-Onset Chorea with Psychomotor Retardation  
chorea gravidarum 
Choreoathetosis, Familial Inverted 
Cockayne syndrome +   
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 
Dystonia Musculorum Deformans +   
Familial Amyloid Polyneuropathies +   
familial encephalopathy with neuroserpin inclusion bodies  
Generalized Epilepsy and Paroxysmal Dyskinesia  
Gerstmann-Straussler-Scheinker syndrome  
Gilles de la Tourette syndrome +   
Hereditary Central Nervous System Demyelinating Diseases +   
Hereditary Optic Atrophies +   
hereditary sensory neuropathy +   
Huntington's disease +   
Huntington's disease-like 2  
Huntington's Disease-Like Syndrome  
Kennedy's disease  
Lafora disease  
Leukoencephalomyelopathy  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Mental Retardation, X-Linked +   
mitochondrial DNA depletion syndrome 6  
motor peripheral neuropathy +   
myotonia congenita +   
myotonic dystrophy type 1 +   
neuroacanthocytosis +   
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.
neurofibromatosis +   
neurogenic scapuloperoneal syndrome Kaeser type  
neuronal ceroid lipofuscinosis +   
Opticocochleodentate Degeneration 
pantothenate kinase-associated neurodegeneration +   
paroxysmal nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
PCWH syndrome  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
primary cerebellar degeneration +   
Progressive Psychomotor Deterioration  
Remitting Chorea with Nystagmus and Cataracts 
spinal muscular atrophy with lower extremity predominance +   
Spongiform Encephalopathy with Neuropsychiatric Features  
syndromic microphthalmia 10 
tuberous sclerosis +   
Unverricht-Lundborg syndrome +   
Wilson disease +   

Synonyms
Exact Synonyms: acanthocytosis with neurologic disorder
Primary IDs: MESH:D054546
Alternate IDs: RDO:0004431
Xrefs: GARD:10902
Definition Sources: MESH:D054546, url:http://www.omim.org/entry/200150 "DO", url:https://rarediseases.org/rare-diseases/neuroacanthocytosis/ "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.