Neurodegeneration with brain iron accumulation 5

Preferred Label : Neurodegeneration with brain iron accumulation 5;

Symbol : NBIA5;

CISMeF acronym : BPAN; NBIA5; SENDA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : BPAN; Beta-propeller protein-associated neurodegeneration; SENDA; Static encephalopathy of childhood with neurodegeneration in adulthood;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the WD repeat-containing protein 45 gene (WDR45, 300526.0001);

Prefixed ID : #300894;

Details

Origin ID

300894;

UMLS CUI

C3550973;

Automatic exact mappings (from CISMeF team)
- 1-(5-bromo-2-pyridylazo)-2-naphthol-6-sulfonic acid [MeSH Supplementary Concept]
- WD repeat domain 45 [ORDO Gene]
- WD repeat domain 45 [HGNC gene]
Currated CISMeF NLP mapping
- Beta-propeller protein-associated neurodegeneration [ORDO Disease]
- Beta-propeller protein-associated neurodegeneration (disorder) [SNOMED CT concept]
- Neurodegeneration with Brain Iron Accumulation 5 [NCIt concept]
- neurodegeneration with brain iron accumulation 5 [DO Concept]
DO Cross reference
- neurodegeneration with brain iron accumulation 5 [DO Concept]
Genes related to phenotype
- Wd repeat-containing protein 45 [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Abnormality of extrapyramidal motor function [HPO term]
- Abnormality of eye movement [HPO term]
- Absent speech [HPO term]
- Aggressive behavior [HPO term]
- Bradykinesia [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Dementia [HPO term]
- Dystonia [HPO term]
- Frontal release signs [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Neurodegeneration [HPO term]
- Parkinsonism [HPO term]
- Poor speech [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
- Spastic paraparesis [HPO term]
- Tremor [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Beta-propeller protein-associated neurodegeneration [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beta-propeller protein-associated neurodegeneration (disorder) [SNOMED CT concept]
- Neurodegeneration with Brain Iron Accumulation 5 [NCIt concept]
- neurodegeneration with brain iron accumulation 5 [DO Concept]
Validated automatic mappings to NTBT
- Mitochondrial membrane protein-associated neurodegeneration [ORDO Disease]

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