Details of Disease | DrugMAP

General Information of Disease (ID: DISXF54F)

Disease Name	ADan amyloidosis
Synonyms	dementia, familial Danish; ITM2B-related cerebral amyloid angiopathy 2; cerebral amyloid angiopathy, ITM2B-RELATED, 2; cerebellar ataxia, cataract, deafness, and dementia or psychosis; FDD; cerebellar ataxia, cataract, deafness, and dementia Or psychosis; cerebral amyloid angiopathy, ITM2B-related, type 2; Heredopathia Ophthalmootoencephalica; familial Danish dementia; familial dementia, Danish type; HOOE
Definition	A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.
Disease Hierarchy	DIS1KAQI: Cerebral amyloid angiopathy DISO8UGV: ITM2B amyloidosis DISXF54F: ADan amyloidosis
Disease Identifiers	MONDO ID MONDO_0007297 MESH ID C538209 UMLS CUI C1861735 OMIM ID 117300 MedGen ID 396208 Orphanet ID 97346 SNOMED CT ID 783258000

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
SLC2A9	TTIF3GB	Strong	Biomarker	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC2A6	DTS4MKQ	Strong	Biomarker	[1]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ITM2B	OTMXEPXB	Supportive	Autosomal dominant	[2]
APH1B	OTQHPTGC	Strong	Biomarker	[3]
GPC1	OTQKRSSV	Strong	Biomarker	[4]
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References

1	Interaction Between ITM2B and GLUT9 Links Urate Transport to Neurodegenerative Disorders.Front Physiol. 2019 Oct 22;10:1323. doi: 10.3389/fphys.2019.01323. eCollection 2019.
2	A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. Proc Natl Acad Sci U S A. 2000 Apr 25;97(9):4920-5. doi: 10.1073/pnas.080076097.
3	Deletion of the -secretase subunits Aph1B/C impairs memory and worsens the deficits of knock-in mice modeling the Alzheimer-like familial Danish dementia.Oncotarget. 2016 Mar 15;7(11):11923-44. doi: 10.18632/oncotarget.7389.
4	Molecular chaperons, amyloid and preamyloid lesions in the BRI2 gene-related dementias: a morphological study.Neuropathol Appl Neurobiol. 2006 Oct;32(5):492-504. doi: 10.1111/j.1365-2990.2006.00747.x.