Neurodegeneration with brain iron accumulation 1

Preferred Label : Neurodegeneration with brain iron accumulation 1;

Symbol : NBIA1;

CISMeF acronym : PKAN; NBIA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pantothenate kinase-associated neurodegeneration; Pkan neuroaxonal dystrophy, juvenile-onset; Hallervorden-spatz disease; PKAN; Harp syndrome; Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration; HARP;

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, severity, and cognitive involvement are variable (review by Gregory et al., 2009).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the pantothenate kinase-2 gene (PANK2, 607157.0001);

Prefixed ID : #234200;

Details

Origin ID

234200;

UMLS CUI

C0018523;

Automatic exact mappings (from CISMeF team)
- Pantothenate kinase-associated neurodegeneration [MedDRA LLT]
- Pantothenate-kinase-associated neurodegeneration [ICD-11 More detail]
- pantothenate kinase 2 [ORDO Gene]
- pantothenate kinase 2 [HGNC gene]
- pantothenate kinase-associated neurodegeneration [DO Concept]
- symbol withdrawn NBIA1 [HGNC gene]
Broader ORDO disease(s)
- Neurodegeneration with brain iron accumulation [ORDO Disease]
Currated CISMeF NLP mapping
- Brain Iron Accumulation Type I Syndrome [NCIt concept]
- Hallervorden Spatz disease [PASCAL descriptor]
- Hallervorden Spatz syndrome [Disease (Nov.)]
- Hallervorden-Spatz disease [ICD-10 Sub-category]
- Hallervorden-Spatz disease [ICD-10 Sub-category (who)]
- Neurodegeneration with brain iron accumulation [ICD-11 More detail]
- Neurodegeneration with brain iron accumulation [ORDO Disease]
- Pantothenate Kinase-Associated Neurodegeneration [NCIt concept]
- Pantothenate kinase-associated neurodegeneration [ORDO Disease]
- Pigmentary pallidal degeneration (disorder) [SNOMED CT concept]
- pantothenate Kinase-Associated neurodegeneration [MeSH concept]
- pantothenate kinase-associated neurodegeneration [MeSH Descriptor]
- pigmentary pallidal degeneration [SNOMED Notion]
DO Cross reference
- pantothenate kinase-associated neurodegeneration [DO Concept]
Genes related to phenotype
- Pantothenate kinase 2 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Abnormal pyramidal sign [HPO term]
- Abnormality of extrapyramidal motor function [HPO term]
- Acanthocytosis [HPO term]
- Akinesia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Behavioral abnormality [HPO term]
- Blepharospasm [HPO term]
- Bradykinesia [HPO term]
- Cerebral degeneration [HPO term]
- Childhood onset [HPO term]
- Choreoathetosis [HPO term]
- Decreased muscle mass [HPO term]
- Dementia [HPO term]
- Dementia, progressive [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dysphonia [HPO term]
- Dystonia [HPO term]
- Eye of the tiger anomaly of globus pallidus [HPO term]
- Eyelid apraxia [HPO term]
- Facial grimacing [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Gait disturbance [HPO term]
- Global brain atrophy [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hyperreflexia [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Mental deterioration [HPO term]
- Motor tics [HPO term]
- Myopathy [HPO term]
- Neuroaxonal degeneration in the brain [HPO term]
- Neurodegeneration [HPO term]
- Obsessive-compulsive trait [HPO term]
- Optic atrophy [HPO term]
- Orofacial dyskinesia [HPO term]
- Palilalia [HPO term]
- Parkinsonism [HPO term]
- Phonic tics [HPO term]
- Pigmentary retinopathy [HPO term]
- Rapidly progressive [HPO term]
- Retinal degeneration [HPO term]
- Rigidity [HPO term]
- Spasticity [HPO term]
- Tremor [HPO term]
- Urinary incontinence [HPO term]
ORDO concept(s)
- Atypical pantothenate kinase-associated neurodegeneration [ORDO Disease]
- Classic pantothenate kinase-associated neurodegeneration [ORDO Disease]
- Pantothenate kinase-associated neurodegeneration [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brain Iron Accumulation Type I Syndrome [NCIt concept]
- Hallervorden Spatz disease [PASCAL descriptor]
- Hallervorden Spatz syndrome [Disease (Nov.)]
- Hallervorden-Spatz disease [ICD-10 Sub-category (who)]
- Hallervorden-Spatz disease [ICD-10 Sub-category]
- Pantothenate Kinase-Associated Neurodegeneration [NCIt concept]
- Pantothenate kinase-associated neurodegeneration [ORDO Disease]
- Pantothenate kinase-associated neurodegeneration [MedDRA LLT]
- Pigmentary pallidal degeneration (disorder) [SNOMED CT concept]
- pantothenate Kinase-Associated neurodegeneration [MeSH concept]
- pantothenate kinase-associated neurodegeneration [MeSH Descriptor]
- pantothenate kinase-associated neurodegeneration [DO Concept]
- pigmentary pallidal degeneration [SNOMED Notion]

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