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ITM2B amyloidosis

MedGen UID:
82800
Concept ID:
C0268393
Disease or Syndrome
Synonyms: Autosomal Dominant Cerebrovascular Amyloidosis; Cerebral Amyloid Angiopathy, Familial; Familial Cerebral Amyloid Angiopathy; HCHWA
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0018591
Orphanet: ORPHA439254

Definition

A rare, neurodegenerative disease characterized by progressive dementia and ataxia, widespread cerebral amyloid angiopathy and parenchymal amyloid deposition. Two subtypes have been identified, ABri amyloidosis and ADan amyloidosis. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVITM2B amyloidosis

Recent clinical studies

Therapy

Knight SD, Presto J, Linse S, Johansson J
Biochemistry 2013 Oct 29;52(43):7523-31. Epub 2013 Oct 17 doi: 10.1021/bi400908x. PMID: 24099305
Srinivasan R, Jones EM, Liu K, Ghiso J, Marchant RE, Zagorski MG
J Mol Biol 2003 Nov 7;333(5):1003-23. doi: 10.1016/j.jmb.2003.09.001. PMID: 14583196

Prognosis

Chyra Kufova Z, Sevcikova T, Januska J, Vojta P, Boday A, Vanickova P, Filipova J, Growkova K, Jelinek T, Hajduch M, Hajek R
J Clin Pathol 2018 Aug;71(8):687-694. Epub 2018 Feb 17 doi: 10.1136/jclinpath-2017-204978. PMID: 29455155Free PMC Article

Clinical prediction guides

Taylor X, Cisternas P, You Y, You Y, Xiang S, Marambio Y, Zhang J, Vidal R, Lasagna-Reeves CA
J Neuroinflammation 2020 Jul 25;17(1):223. doi: 10.1186/s12974-020-01900-7. PMID: 32711525Free PMC Article
Chyra Kufova Z, Sevcikova T, Januska J, Vojta P, Boday A, Vanickova P, Filipova J, Growkova K, Jelinek T, Hajduch M, Hajek R
J Clin Pathol 2018 Aug;71(8):687-694. Epub 2018 Feb 17 doi: 10.1136/jclinpath-2017-204978. PMID: 29455155Free PMC Article
Knight SD, Presto J, Linse S, Johansson J
Biochemistry 2013 Oct 29;52(43):7523-31. Epub 2013 Oct 17 doi: 10.1021/bi400908x. PMID: 24099305
Vidal R, Barbeito AG, Miravalle L, Ghetti B
Brain Pathol 2009 Jan;19(1):58-68. Epub 2008 Apr 10 doi: 10.1111/j.1750-3639.2008.00164.x. PMID: 18410407Free PMC Article
Pickford F, Coomaraswamy J, Jucker M, McGowan E
Brain Pathol 2006 Jan;16(1):80-5. doi: 10.1111/j.1750-3639.2006.tb00564.x. PMID: 16612985Free PMC Article

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