ZFIN Human Disease: ITM2B-related cerebral amyloid angiopathy 1

OBO ID: DOID:0070029

Term Name:	ITM2B-related cerebral amyloid angiopathy 1		Search Ontology:
Synonyms:	Cerebral Amyloid Angiopathy, British Type Familial British Dementia FBD Presenile Dementia with Spastic Ataxia
Definition:	A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. (2)
References:	GARD:8344 OMIM:176500
Ontology:	Human Disease ( DOID:0070029 )

Relationships

is a type of:	autosomal dominant disease cerebral amyloid angiopathy autosomal dominant disease cerebral amyloid angiopathy Show first 5 Terms

OTHER ITM2B-related cerebral amyloid angiopathy 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ITM2B	itm2ba itm2bb	Dementia, familial British	176500

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None