Neurodegeneration with brain iron accumulation 3

Preferred Label : Neurodegeneration with brain iron accumulation 3;

Symbol : NBIA3;

CISMeF acronym : NBIA3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Basal ganglia disease, adult-onset; NEUROFERRITINOPATHY;

Description : Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, cognitive involvement, and mode of inheritance is variable (review by Gregory et al., 2009).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ferritin light-chain gene (FTL, 134790.0010);

Laboratory abnormalities : Decreased serum ferritin;

Prefixed ID : #606159;

Details

Origin ID

606159;

UMLS CUI

C1853578;

Automatic exact mappings (from CISMeF team)
- ferritin light chain [ORDO Gene]
- ferritin light chain [HGNC gene]
- pantothenate kinase-associated neurodegeneration [MeSH Descriptor]
Currated CISMeF NLP mapping
- Neuroferritinopathy [MeSH concept]
- Neuroferritinopathy [ORDO Disease]
- Neuroferritinopathy (disorder) [SNOMED CT concept]
- neurodegeneration with brain iron accumulation 3 [DO Concept]
- neuroferritinopathy [Disease (Nov.)]
- neuroferritinopathy [MeSH Supplementary Concept]
DO Cross reference
- neurodegeneration with brain iron accumulation 3 [DO Concept]
Genes related to phenotype
- Ferritin light chain [OMIM gene]
HPO term(s)
- Anarthria [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Blepharospasm [HPO term]
- Bradykinesia [HPO term]
- Cavitation of the basal ganglia [HPO term]
- Chorea [HPO term]
- Choreoathetosis [HPO term]
- Cognitive defects [HPO term]
- Decreased circulating ferritin concentration [HPO term]
- Dementia [HPO term]
- Disinhibition [HPO term]
- Dysarthria [HPO term]
- Dyskinesia [HPO term]
- Dysphagia [HPO term]
- Dysphonia [HPO term]
- Dystonia [HPO term]
- Emotional lability [HPO term]
- Hyperreflexia [HPO term]
- Hypomimic face [HPO term]
- Laryngeal dystonia [HPO term]
- Micrographia [HPO term]
- Middle age onset [HPO term]
- Mutism [HPO term]
- Neurodegeneration [HPO term]
- Parkinsonism [HPO term]
- Progressive [HPO term]
- Rigidity [HPO term]
- Spasticity [HPO term]
- Subcortical dementia [HPO term]
- Tremor [HPO term]
- Writer's cramp [HPO term]
ORDO concept(s)
- Neuroferritinopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neuroferritinopathy [ORDO Disease]
- Neuroferritinopathy [MeSH concept]
- Neuroferritinopathy (disorder) [SNOMED CT concept]
- neurodegeneration with brain iron accumulation 3 [DO Concept]
- neuroferritinopathy [MeSH Supplementary Concept]
- neuroferritinopathy [Disease (Nov.)]

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