Neurodegeneration with brain iron accumulation 2a

Preferred Label : Neurodegeneration with brain iron accumulation 2a;

Symbol : NBIA2A;

CISMeF acronym : INAD; PLAN; NBIA2A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : INAD1; Seitelberger disease; Neurodegeneration, pla2g6-associated; PLAN; INAD; Neuroaxonal dystrophy, infantile;

Description : Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by Gregory et al., 2009).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phospholipase A2, group VI gene (PLA2G6, 603604.0001);

Laboratory abnormalities : Characteristic spheroids can be found in peripheral tissue, such as skin and conjunctiva;

Prefixed ID : #256600;

Details

Origin ID

256600;

UMLS CUI

C0270724;

Automatic exact mappings (from CISMeF team)
- Cognitive function: planning (observable entity) [SNOMED CT concept]
- Infantile neuroaxonal dystrophy [ICD-11 More detail]
- Map [MeSH publication type]
- Outline [MeSH concept]
- Outline [MeSH publication type]
- Plan [LOINC component]
- Plan [ICNP mean]
- Plan [NCIt concept]
- Plane [NCIt concept]
- Planned (qualifier value) [SNOMED CT concept]
- Planning [LOINC component]
- Planning [HPMULTI term]
- Planning [DeCS]
- Planning [ICNP action]
- Plans [DeCS]
- Spaced out [MedDRA LLT]
- flat [SNOMED Notion]
- plan [OBI concept]
- planned [PSIP Taxonomy Term]
- planning [OBI concept]
Currated CISMeF NLP mapping
- Infantile Neuroaxonal Dystrophy [NCIt concept]
- Infantile neuroaxonal dystrophy [ORDO Disease]
- Infantile neuroaxonal dystrophy (disorder) [SNOMED CT concept]
- Neuroaxonal dystrophy [PASCAL descriptor]
- PLA2G6-associated neurodegeneration [ORDO Disease]
- infantile neuroaxonal dystrophy [MeSH concept]
- infantile neuroaxonal dystrophy [SNOMED Notion]
- neuroaxonal dystrophies [MeSH Descriptor]
- neurodegeneration with brain iron accumulation 2a [DO Concept]
DO Cross reference
- neurodegeneration with brain iron accumulation 2a [DO Concept]
Genes related to phenotype
- Phospholipase a2, group VI [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Abnormality of visual evoked potentials [HPO term]
- Areflexia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Childhood onset [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Delayed speech and language development [HPO term]
- Developmental regression [HPO term]
- EMG: chronic denervation signs [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Generalized muscle weakness [HPO term]
- Gliosis [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hyperreflexia [HPO term]
- Hypotonia [HPO term]
- Impaired social interactions [HPO term]
- Intellectual disability [HPO term]
- Iron accumulation in brain [HPO term]
- Micrognathia [HPO term]
- Morphological abnormality of the pyramidal tract [HPO term]
- Neurodegeneration [HPO term]
- Neuronal loss [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Prominent forehead [HPO term]
- Psychomotor regression, progressive [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Spastic tetraplegia [HPO term]
- Strabismus [HPO term]
- Unsteady gait [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- Infantile neuroaxonal dystrophy [ORDO Disease]
See also inter- (CISMeF)
- infantile neuroaxonal dystrophy [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile Neuroaxonal Dystrophy [NCIt concept]
- Infantile neuroaxonal dystrophy [ORDO Disease]
- Infantile neuroaxonal dystrophy [MedDRA Preferred Term]
- Infantile neuroaxonal dystrophy (disorder) [SNOMED CT concept]
- infantile neuroaxonal dystrophy [SNOMED Notion]
- infantile neuroaxonal dystrophy [MeSH concept]
- infantile neuroaxonal dystrophy [Disease (Nov.)]
- neurodegeneration with brain iron accumulation 2a [DO Concept]

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