CAA-APP
MCID: CRB096
MIFTS: 30

Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants (CAA-APP) 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:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
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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 52 24 12
Cerebral Amyloid Angiopathy, App-Related 52 24 70 27
Hchwa-D 54 70
Familial Occipital Calcifications with Hemorrhagic Strokes Leukoencephalopathy Arterial Dysplasia Dementia 70
Hereditary Cerebral Hemorrhage with Amyloidosis, Piedmont Type 54
Amyloidosis Hereditary with Cerebral Hemorrhage Dutch Variant 70
Hereditary Cerebral Hemorrhage with Amyloidosis, Italian Type 54
Hereditary Cerebral Hemorrhage with Amyloidosis, Flemish Type 54
Hereditary Cerebral Hemorrhage with Amyloidosis Italian Type 70
Hereditary Cerebral Hemorrhage with Amyloidosis, Arctic Type 54
Cerebral Hemorrhage with Amyloidosis, Hereditary, Dutch Type 68
Hereditary Cerebral Hemorrhage with Amyloidosis, Dutch Type 54
Hereditary Cerebral Hemorrhage with Amyloidosis, Iowa Type 54
Hereditary Cerebral Hemorrhage with Amyloidosis Dutch Type 70
Cerebral Amyloid Angiopathy App-Related Italian Variant 70
Cerebral Amyloid Angiopathy App-Related Flemish Variant 70
Cerebral Amyloid Angiopathy App-Related Arctic Variant 70
Cerebral Amyloid Angiopathy App-Related Dutch Variant 70
Cerebral Amyloid Angiopathy App-Related Iowa Variant 70
Hereditary Cerebral Amyloid Angiopathy Dutch Type 70
Amyloidosis, Cerbroarterial, App-Related 24
Amyloidosis Cerebroarterial App-Related 70
Abeta Amyloidosis, Piedmont Type 54
 
Abeta Amyloidosis, Flemish Type 54
Abeta Amyloidosis, Italian Type 54
Abeta Amyloidosis, Arctic Type 54
Abeta Amyloidosis, Dutch Type 54
Abetaa21g-Related Amyloidosis 54
Abetal34v-Related Amyloidosis 54
Abeta Amyloidosis, Iowa Type 54
Abetal34v Amyloidosis 54
Abetae22q Amyloidosis 54
Abetaa21g Amyloidosis 54
Abetae22g Amyloidosis 54
Abetad23n Amyloidosis 54
Abetae22k Amyloidosis 54
Hchwa, Piedmont Type 54
Hchwa, Flemish Type 54
Hchwa, Italian Type 54
Hchwa, Arctic Type 54
Hchwa, Dutch Type 54
Hchwa, Iowa Type 54
Fochs-Ladd 70
Caa-App 70
Hchwad 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants:
Inheritance: autosomal dominant inheritance
Mortality/Aging: death in early adulthood

Classifications:



External Ids:

OMIM52 605714
ICD10 via Orphanet31 E85.4+, I68.0*
MESH via Orphanet40 C537944, D028243
UMLS via Orphanet69 C0268394, C2931672
MeSH39 D028243

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

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UniProtKB/Swiss-Prot:70 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 Array, Array and Array. 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:52 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 hemorrhage10.3
2cerebritis10.3
3amyloidosis10.3

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

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Symptoms by clinical synopsis from OMIM:

605714

Clinical features from OMIM:

605714

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

 54 64 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dementia64 54 Frequent (79-30%) HP:0000726
2 seizures64 54 Frequent (79-30%) HP:0001250
3 coma64 54 Frequent (79-30%) HP:0001259
4 mental deterioration54 Frequent (79-30%)
5 stroke64 54 Very frequent (99-80%) HP:0001297
6 cerebral hemorrhage64 54 Very frequent (99-80%) HP:0001342
7 migraine64 54 Very frequent (99-80%) HP:0002076
8 behavioral abnormality64 54 Very frequent (99-80%) HP:0000708
9 febrile seizures64 54 Very frequent (99-80%) HP:0002373
10 gait disturbance64 54 Very frequent (99-80%) HP:0001288
11 myoclonus64 54 Very frequent (99-80%) HP:0001336
12 dysphagia64 54 Very frequent (99-80%) HP:0002015
13 memory impairment64 54 Very frequent (99-80%) HP:0002354
14 abnormality of the cerebral vasculature54 Very frequent (99-80%)
15 intellectual disability64 54 Very frequent (99-80%) HP:0001249
16 global developmental delay64 54 Very frequent (99-80%) HP:0001263
17 paresthesia64 54 Very frequent (99-80%) HP:0003401
18 sensory impairment64 54 Very frequent (99-80%) HP:0003474
19 headache64 54 Very frequent (99-80%) HP:0002315
20 cerebral calcification64 54 Frequent (79-30%) HP:0002514
21 cerebral amyloid angiopathy64 54 Frequent (79-30%) HP:0011970
22 death in early adulthood54 Occasional (29-5%)
23 cerebral ischemia64 HP:0002637
24 tortuous cerebral arteries64 HP:0004938
25 recurrent cerebral hemorrhage64 HP:0004968
26 cerebellar hemorrhage64 HP:0011695

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-Related27 24 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:

36
Bone

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:

70
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
1subset of 26 genes:APPNC_ 000021.8: g.14714507_ 29216662dup14502156duplicationPathogenicNCBI36Chr 21, 13636378: 28138533
2APPNM_ 000484.3(APP): c.2077G> C (p.Glu693Gln)SNVPathogenicrs63750579GRCh37Chr 21, 27264168: 27264168
3APPNM_ 000484.3(APP): c.2075C> G (p.Ala692Gly)SNVPathogenicrs63750671GRCh37Chr 21, 27264170: 27264170
4APPNM_ 000484.3(APP): c.2078A> G (p.Glu693Gly)SNVPathogenicrs63751039GRCh37Chr 21, 27264167: 27264167
5APPNM_ 000484.3(APP): c.2077G> A (p.Glu693Lys)SNVPathogenicrs63750579GRCh37Chr 21, 27264168: 27264168
6APPNM_ 000484.3(APP): c.2080G> A (p.Asp694Asn)SNVPathogenicrs63749810GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet