ITM2B-related cerebral amyloid angiopathy 1

Summary

DOID:0070029 - ITM2B-related cerebral amyloid angiopathy 1

Disease Ontology 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 heterozygous mutation in the ITM2B gene on chromosome 13q14.

Synonyms: Cerebral Amyloid Angiopathy, British Type, Familial British Dementia, FBD, Presenile Dementia with Spastic Ataxia

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: itm2b

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008306 - ABri amyloidosis

MONDO:0008306 - ABri amyloidosis

MIM:

MIM:176500 - CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1

MIM:176500 - CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), cerebral amyloid angiopathy (is_a)