Neurodegeneration with brain iron accumulation 2b

Preferred Label : Neurodegeneration with brain iron accumulation 2b;

Symbol : NBIA2B;

CISMeF acronym : NBIA2B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neurodegeneration with brain iron accumulation, pla2g6-related; Neuroaxonal dystrophy, atypical;

Included titles and symbols : Karak syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phospholipase A2, group VI gene (PLA2G6, 603604.0002);

Prefixed ID : #610217;

Détails

Origin ID

610217;

UMLS CUI

C1857747;

Automatic exact mappings (from CISMeF team)
- Karak Syndrome [MeSH concept]
- karak syndrome [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Neurodegeneration with brain iron accumulation [ORDO Disease]
Currated CISMeF NLP mapping
- NBIA2B [MeSH concept]
- NBIA2B [MeSH Supplementary Concept]
- neurodegeneration with brain iron accumulation 2b [DO Concept]
DO Cross reference
- neurodegeneration with brain iron accumulation 2b [DO Concept]
Genes related to phenotype
- Phospholipase a2, group VI [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Bradykinesia [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Childhood onset [HPO term]
- Chorea [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Emotional lability [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties [HPO term]
- Gait ataxia [HPO term]
- Hyperactivity [HPO term]
- Hypertonia [HPO term]
- Impaired smooth pursuit [HPO term]
- Impulsivity [HPO term]
- Intention tremor [HPO term]
- Lewy bodies [HPO term]
- Mental deterioration [HPO term]
- Neurodegeneration [HPO term]
- Neurofibrillary tangles [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Progressive [HPO term]
- Seizure [HPO term]
- Short attention span [HPO term]
- Spasticity [HPO term]
- Speech delay [HPO term]
- Talipes calcaneovalgus [HPO term]
ORDO concept(s)
- Infantile neuroaxonal dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- NBIA2B [MeSH Supplementary Concept]
- NBIA2B [MeSH concept]
- neurodegeneration with brain iron accumulation 2b [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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