Neurodegeneration, childhood-onset, with brain atrophy

Preferred Label : Neurodegeneration, childhood-onset, with brain atrophy;

Symbol : CONDBA;

CISMeF acronym : CONDBA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the upstream binding transcription factor (RNA polymerase I) gene (UBTF, 600673.0001);

Prefixed ID : #617672;

Details

Origin ID

617672;

UMLS CUI

C4540086;

Automatic exact mappings (from CISMeF team)
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder [ORDO Disease]
Genes related to phenotype
- Upstream binding transcription factor (rna polymerase I) [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Abnormality of extrapyramidal motor function [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axonal loss [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral cortical atrophy [HPO term]
- Chorea [HPO term]
- Decreased body weight [HPO term]
- Developmental regression [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability, profound [HPO term]
- Mental deterioration [HPO term]
- Neurodegeneration [HPO term]
- Parkinsonism [HPO term]
- Peripheral demyelination [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder [ORDO Disease]
See also inter- (CISMeF)
- UBTF wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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