MCID: CRB096
MIFTS: 27

Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants malady

Categories: Genetic diseases (common), Mental diseases

Aliases & Classifications for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish,...

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Aliases & Descriptions for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants:

Name: Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants 49 11 22
Cerebral Amyloid Angiopathy, App-Related 22 67 24
Familial Occipital Calcifications with Hemorrhagic Strokes Leukoencephalopathy Arterial Dysplasia Dementia 67
Amyloidosis Hereditary with Cerebral Hemorrhage Dutch Variant 67
Hereditary Cerebral Hemorrhage with Amyloidosis Italian Type 67
Cerebral Hemorrhage with Amyloidosis, Hereditary, Dutch Type 65
Hereditary Cerebral Hemorrhage with Amyloidosis Dutch Type 67
Cerebral Amyloid Angiopathy App-Related Italian Variant 67
Cerebral Amyloid Angiopathy App-Related Flemish Variant 67
Cerebral Amyloid Angiopathy App-Related Arctic Variant 67
 
Cerebral Amyloid Angiopathy App-Related Dutch Variant 67
Cerebral Amyloid Angiopathy App-Related Iowa Variant 67
Hereditary Cerebral Amyloid Angiopathy Dutch Type 67
Amyloidosis, Cerbroarterial, App-Related 22
Amyloidosis Cerebroarterial App-Related 67
Fochs-Ladd 67
Caa-App 67
Hchwa-D 67
Hchwad 67

Characteristics:

HPO:

61
cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 605714
MeSH36 D028243
UMLS65 C2931672

Summaries for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish,...

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UniProtKB/Swiss-Prot:67 Cerebral amyloid angiopathy, APP-related: A hereditary localized amyloidosis due to amyloid-beta A4 peptide(s) deposition in the cerebral vessels. The principal clinical characteristics are recurrent cerebral and cerebellar hemorrhages, recurrent strokes, cerebral ischemia, cerebral infarction, and progressive mental deterioration. Patients develop cerebral hemorrhage because of the severe cerebral amyloid angiopathy. Parenchymal amyloid deposits are rare and largely in the form of pre-amyloid lesions or diffuse plaque-like structures. They are Congo red negative and lack the dense amyloid cores commonly present in Alzheimer disease. Some affected individuals manifest progressive aphasic dementia, leukoencephalopathy, and occipital calcifications.

MalaCards based summary: Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants, also known as cerebral amyloid angiopathy, app-related, is related to abeta amyloidosis, italian type and abeta amyloidosis, dutch type, and has symptoms including feeding difficulties in infancy, reduced consciousness/confusion and involuntary movements. An important gene associated with Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants is APP (Amyloid Beta Precursor Protein).

OMIM:49 Cerebral amyloid angiopathy, or cerebroarterial amyloidosis, refers to a pathologic process in which amyloid protein... (605714) more...

Related Diseases for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish,...

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Diseases related to Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1abeta amyloidosis, italian type11.8
2abeta amyloidosis, dutch type11.6
3skin disease10.4
4hypertrophic pyloric stenosis10.4
5pyloric stenosis10.4
6cystic nephroma10.4
7hypersensitivity syndrome, carbamazepine-induced9.7AAA1, APP
8enterokinase deficiency9.5AAA1, APP

Graphical network of diseases related to Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants:



Diseases related to cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants

Symptoms for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish,...

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Symptoms by clinical synopsis from OMIM:

605714

Clinical features from OMIM:

605714

HPO human phenotypes related to Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants:

(show all 25)
id Description Frequency HPO Source Accession
1 feeding difficulties in infancy hallmark (90%) HP:0008872
2 reduced consciousness/confusion hallmark (90%) HP:0004372
3 involuntary movements hallmark (90%) HP:0004305
4 paresthesia hallmark (90%) HP:0003401
5 cerebral ischemia hallmark (90%) HP:0002637
6 developmental regression hallmark (90%) HP:0002376
7 memory impairment hallmark (90%) HP:0002354
8 intracranial hemorrhage hallmark (90%) HP:0002170
9 migraine hallmark (90%) HP:0002076
10 gait disturbance hallmark (90%) HP:0001288
11 behavioral abnormality hallmark (90%) HP:0000708
12 reduced consciousness/confusion typical (50%) HP:0004372
13 cerebral ischemia typical (50%) HP:0002637
14 cerebral calcification typical (50%) HP:0002514
15 developmental regression typical (50%) HP:0002376
16 migraine typical (50%) HP:0002076
17 seizures typical (50%) HP:0001250
18 behavioral abnormality typical (50%) HP:0000708
19 cerebral amyloid angiopathy HP:0011970
20 cerebellar hemorrhage HP:0011695
21 recurrent cerebral hemorrhage HP:0004968
22 tortuous cerebral arteries HP:0004938
23 cerebral ischemia HP:0002637
24 stroke HP:0001297
25 dementia HP:0000726

Drugs & Therapeutics for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish,...

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants

Genetic Tests for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish,...

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Genetic tests related to Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants:

id Genetic test Affiliating Genes
1 Cerebral Amyloid Angiopathy, App-Related22 APP

Anatomical Context for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish,...

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Animal Models for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish,... or affiliated genes

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Publications for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish,...

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Variations for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish,...

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UniProtKB/Swiss-Prot genetic disease variations for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants:

67
id Symbol AA change Variation ID SNP ID
1APPp.Glu693GlnVAR_000017
2APPp.Glu693LysVAR_014216
3APPp.Asp694AsnVAR_014217
4APPp.Leu705ValVAR_032276

Clinvar genetic disease variations for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants:

5
id Gene Variation Type Significance SNP ID Assembly Location
1more than 10NC_000021.8: g.14714507_29216662dup14502156duplicationPathogenicNCBI36Chr 21, 13636378: 28138533
2APPNM_000484.3(APP): c.2077G> C (p.Glu693Gln)single nucleotide variantPathogenicrs63750579GRCh37Chr 21, 27264168: 27264168
3APPNM_000484.3(APP): c.2075C> G (p.Ala692Gly)single nucleotide variantPathogenicrs63750671GRCh37Chr 21, 27264170: 27264170
4APPNM_000484.3(APP): c.2078A> G (p.Glu693Gly)single nucleotide variantPathogenicrs63751039GRCh37Chr 21, 27264167: 27264167
5APPNM_000484.3(APP): c.2077G> A (p.Glu693Lys)single nucleotide variantPathogenicrs63750579GRCh37Chr 21, 27264168: 27264168
6APPNM_000484.3(APP): c.2080G> A (p.Asp694Asn)single nucleotide variantPathogenicrs63749810GRCh37Chr 21, 27264165: 27264165

Expression for genes affiliated with Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish,...

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Search GEO for disease gene expression data for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants.

Pathways for genes affiliated with Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish,...

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GO Terms for genes affiliated with Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish,...

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Sources for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish,...

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet