Details of Disease | DrugMAP

General Information of Disease (ID: DIS157F6)

Disease Name	Neurodegeneration with brain iron accumulation 8
Synonyms	NBIA8; neurodegeneration with brain iron accumulation 8
Disease Hierarchy	DISRK4DZ: Neurodegeneration with brain iron accumulation DIS157F6: Neurodegeneration with brain iron accumulation 8
Disease Identifiers	MONDO ID MONDO_0054764 UMLS CUI C4693587 OMIM ID 617917 MedGen ID 1645224

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CRAT	TTC8M31	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CRAT	DEIGQCY	Limited	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CRAT	OTSCLZ04	Limited	Autosomal recessive	[2]
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References

1	Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. Am J Hum Genet. 2018 Feb 1;102(2):266-277. doi: 10.1016/j.ajhg.2018.01.003.
2	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.