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Ontology Browser

Term:
Childhood-Onset Neurodegeneration with Brain Atrophy (DOID:9008006)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
aceruloplasminemia  
agenesis of the corpus callosum with peripheral neuropathy  
Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy  
Childhood-Onset Neurodegeneration with Brain Atrophy  
A severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills between ages 2 and 7 years. Affected individuals may have normal development or mild developmental delay, but all eventually lose all motor skills, resulting in inability to walk, absence of language, and profound intellectual disability. Brain imaging shows cerebral and cerebellar atrophy. CONDBA is caused by heterozygous mutation in the UBTF gene on chromosome 17q21.(OMIM)
Childhood-Onset Neurodegeneration with Cerebellar Atrophy  
Chronic Traumatic Encephalopathy 
demyelinating disease +   
eye degenerative disease +   
eyelid degenerative disease +  
Feigenbaum Bergeron Richardson Syndrome 
FINCA Syndrome  
hereditary ataxia +   
Huntington's disease +   
Huntington's disease-like 2  
Idiopathic Basal Ganglia Calcification 1  
Idiopathic Basal Ganglia Calcification 6  
Idiopathic Basal Ganglia Calcification 7  
infantile cerebellar-retinal degeneration  
Lafora disease  
Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression  
motor neuron disease +   
multiple system atrophy +   
myoclonic cerebellar dyssynergia +  
Nervous System Heredodegenerative Disorders +   
neurodegeneration with brain iron accumulation +   
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES  
Neuronal Intranuclear Inclusion Disease  
olivopontocerebellar atrophy +   
Paraneoplastic Syndromes, Nervous System +   
PEHO Syndrome  
Pick's disease  
plexopathy 
pontocerebellar hypoplasia +   
postpoliomyelitis syndrome 
primary cerebellar degeneration +   
prion disease +   
Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant 
secondary Parkinson disease +   
Spastic Pseudosclerosis 
Subacute Combined Degeneration  
synucleinopathy +   
tauopathy +   
TDP-43 Proteinopathies +   

Synonyms
Exact Synonyms: CONDBA ;   INFANTILE OR CHILDHOOD ONSET NEURODEGENERATIVE DISEASE, GLOBAL DEVELOPMENTAL DELAY, AND INTELLECTUAL DISABILITY ;   UBTF E210K NEUROREGRESSION SYNDROME
Primary IDs: OMIM:617672
Alternate IDs: RDO:9005183

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