Details of Disease

General Information of Disease (ID: DIST9P34)

Disease Name Neurodegeneration with brain iron accumulation 2B
Synonyms
atypical neuroaxonal dystrophy; Karak syndrome; early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline; neurodegeneration with brain iron accumulation, Pla2G6-related; NBIA2B; neurodegeneration with brain iron accumulation 2B; neurodegeneration with brain iron accumulation type 2b; NBIA2b; neurodegeneration with brain iron accumulation, Pla2g6-related; neurodegeneration with brain iron accumulation type 2B; neuroaxonal dystrophy, atypical
Definition NBIA2A is caused by homozygous or compound heterozygous mutation in the PLA2G6 gene; See also NBIA2B (610217), an overlapping disorder with later onset.
Disease Hierarchy
DIS52D4D: PLA2G6-associated neurodegeneration
DIST9P34: Neurodegeneration with brain iron accumulation 2B
Disease Identifiers
MONDO ID
MONDO_0012444
MESH ID
C565699
UMLS CUI
C1857747
OMIM ID
610217
MedGen ID
346658

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PLA2G6 OT5FL0WU Definitive Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.