MCID: CRB096
MIFTS: 32

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

Categories: Genetic diseases, Neuronal diseases, Bone diseases, Rare diseases, Mental diseases

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

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Sources:
50OMIM, 23GeneTests, 12diseasecard, 68UniProtKB/Swiss-Prot, 25GTR, 52Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants 50 23 12
Cerebral Amyloid Angiopathy, App-Related 50 23 68 25
Hchwa-D 52 68
Familial Occipital Calcifications with Hemorrhagic Strokes Leukoencephalopathy Arterial Dysplasia Dementia 68
Hereditary Cerebral Hemorrhage with Amyloidosis, Piedmont Type 52
Hereditary Cerebral Hemorrhage with Amyloidosis, Flemish Type 52
Amyloidosis Hereditary with Cerebral Hemorrhage Dutch Variant 68
Hereditary Cerebral Hemorrhage with Amyloidosis, Italian Type 52
Hereditary Cerebral Hemorrhage with Amyloidosis, Arctic Type 52
Hereditary Cerebral Hemorrhage with Amyloidosis Italian Type 68
Hereditary Cerebral Hemorrhage with Amyloidosis, Dutch Type 52
Hereditary Cerebral Hemorrhage with Amyloidosis, Iowa Type 52
Hereditary Cerebral Hemorrhage with Amyloidosis Dutch Type 68
Cerebral Amyloid Angiopathy App-Related Italian Variant 68
Cerebral Amyloid Angiopathy App-Related Flemish Variant 68
Cerebral Amyloid Angiopathy App-Related Arctic Variant 68
Cerebral Amyloid Angiopathy App-Related Dutch Variant 68
Cerebral Amyloid Angiopathy App-Related Iowa Variant 68
Hereditary Cerebral Amyloid Angiopathy Dutch Type 68
Amyloidosis, Cerbroarterial, App-Related 23
Amyloidosis Cerebroarterial App-Related 68
Abeta Amyloidosis, Italian Type 52
 
Beta Amyloidosis, Piedmont Type 52
Abeta Amyloidosis, Arctic Type 52
Beta Amyloidosis, Flemish Type 52
Abeta Amyloidosis, Dutch Type 52
Abetaa21g-Related Amyloidosis 52
Abetal34v-Related Amyloidosis 52
Abeta Amyloidosis, Iowa Type 52
Abetae22k Amyloidosis 52
Abetae22q Amyloidosis 52
Abetal34v Amyloidosis 52
Abetaa21g Amyloidosis 52
Abetad23n Amyloidosis 52
Abetae22g Amyloidosis 52
Hchwa, Piedmont Type 52
Hchwa, Flemish Type 52
Hchwa, Italian Type 52
Hchwa, Arctic Type 52
Hchwa, Dutch Type 52
Hchwa, Iowa Type 52
Fochs-Ladd 68
Caa-App 68
Hchwad 68

Characteristics:

Orphanet epidemiological data:

52
hereditary cerebral hemorrhage with amyloidosis, flemish type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult
hereditary cerebral hemorrhage with amyloidosis, italian type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Elderly; Age of death: adult,elderly
hereditary cerebral hemorrhage with amyloidosis, arctic type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Elderly
hereditary cerebral hemorrhage with amyloidosis, iowa type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Elderly; Age of death: elderly
hereditary cerebral hemorrhage with amyloidosis, piedmont type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Elderly; Age of death: elderly
hchwa-d:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult

HPO:

62
cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 605714
ICD10 via Orphanet29 E85.4+, I68.0*
MESH via Orphanet38 C537944, D028243
UMLS via Orphanet67 C0268394, C2931672
MeSH37 D028243

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

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UniProtKB/Swiss-Prot:68 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 cerebral hemorrhage and cerebritis, and has symptoms including behavioral abnormality, gait disturbance and migraine. An important gene associated with Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants is APP (Amyloid Beta Precursor Protein). Affiliated tissues include bone.

OMIM:50 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
1cerebral hemorrhage10.4
2cerebritis10.4
3amyloidosis10.4
4hypersensitivity syndrome, carbamazepine-induced9.5AAA1, APP
5febrile seizures, familial, 79.2AAA1, 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

Symptoms:

 52 (show all 22)
  • dementia
  • seizures
  • coma
  • mental deterioration
  • stroke
  • cerebral hemorrhage
  • migraine
  • behavioral abnormality
  • febrile seizures
  • gait disturbance
  • myoclonus
  • dysphagia
  • memory impairment
  • abnormality of the cerebral vasculature
  • intellectual disability
  • global developmental delay
  • paresthesia
  • sensory impairment
  • headache
  • cerebral calcification
  • cerebral amyloid angiopathy
  • death in early adulthood

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

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

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-Related25 23 APP

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

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MalaCards organs/tissues related to Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants:

34
Bone

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:

68
id Symbol AA change Variation ID SNP ID
1APPp.Glu693GlnVAR_000017rs63750579
2APPp.Glu693LysVAR_014216rs63750579
3APPp.Asp694AsnVAR_014217rs63749810
4APPp.Leu705ValVAR_032276rs63750921

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet