MCID: CRB096
MIFTS: 30

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,...

About this section
Sources:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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 51 24 12
Cerebral Amyloid Angiopathy, App-Related 51 24 69 26
Hchwa-D 53 69
Familial Occipital Calcifications with Hemorrhagic Strokes Leukoencephalopathy Arterial Dysplasia Dementia 69
Hereditary Cerebral Hemorrhage with Amyloidosis, Piedmont Type 53
Amyloidosis Hereditary with Cerebral Hemorrhage Dutch Variant 69
Hereditary Cerebral Hemorrhage with Amyloidosis, Italian Type 53
Hereditary Cerebral Hemorrhage with Amyloidosis, Flemish Type 53
Hereditary Cerebral Hemorrhage with Amyloidosis Italian Type 69
Hereditary Cerebral Hemorrhage with Amyloidosis, Arctic Type 53
Cerebral Hemorrhage with Amyloidosis, Hereditary, Dutch Type 67
Hereditary Cerebral Hemorrhage with Amyloidosis, Dutch Type 53
Hereditary Cerebral Hemorrhage with Amyloidosis, Iowa Type 53
Hereditary Cerebral Hemorrhage with Amyloidosis Dutch Type 69
Cerebral Amyloid Angiopathy App-Related Italian Variant 69
Cerebral Amyloid Angiopathy App-Related Flemish Variant 69
Cerebral Amyloid Angiopathy App-Related Arctic Variant 69
Cerebral Amyloid Angiopathy App-Related Dutch Variant 69
Cerebral Amyloid Angiopathy App-Related Iowa Variant 69
Hereditary Cerebral Amyloid Angiopathy Dutch Type 69
Amyloidosis, Cerbroarterial, App-Related 24
Amyloidosis Cerebroarterial App-Related 69
Abeta Amyloidosis, Piedmont Type 53
 
Abeta Amyloidosis, Flemish Type 53
Abeta Amyloidosis, Italian Type 53
Abeta Amyloidosis, Arctic Type 53
Abeta Amyloidosis, Dutch Type 53
Abetaa21g-Related Amyloidosis 53
Abetal34v-Related Amyloidosis 53
Abeta Amyloidosis, Iowa Type 53
Abetal34v Amyloidosis 53
Abetae22q Amyloidosis 53
Abetaa21g Amyloidosis 53
Abetae22g Amyloidosis 53
Abetad23n Amyloidosis 53
Abetae22k Amyloidosis 53
Hchwa, Piedmont Type 53
Hchwa, Flemish Type 53
Hchwa, Italian Type 53
Hchwa, Arctic Type 53
Hchwa, Dutch Type 53
Hchwa, Iowa Type 53
Fochs-Ladd 69
Caa-App 69
Hchwad 69

Characteristics:

Orphanet epidemiological data:

53
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:

63
cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 605714
ICD10 via Orphanet30 E85.4+, I68.0*
MESH via Orphanet39 C537944, D028243
UMLS via Orphanet68 C0268394, C2931672
MeSH38 D028243

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

About this section
UniProtKB/Swiss-Prot:69 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:51 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,...

About this section

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

About this section

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:

 63 53 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 behavioral abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0000708
2 gait disturbance63 53 hallmark (90%) Very frequent (99-80%) HP:0001288
3 migraine63 53 hallmark (90%) Very frequent (99-80%) HP:0002076
4 intracranial hemorrhage63 hallmark (90%) HP:0002170
5 memory impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0002354
6 developmental regression63 hallmark (90%) HP:0002376
7 cerebral ischemia63 hallmark (90%) HP:0002637
8 paresthesia63 53 hallmark (90%) Very frequent (99-80%) HP:0003401
9 involuntary movements63 hallmark (90%) HP:0004305
10 reduced consciousness/confusion63 hallmark (90%) HP:0004372
11 feeding difficulties in infancy63 hallmark (90%) HP:0008872
12 seizures63 53 typical (50%) Frequent (79-30%) HP:0001250
13 cerebral calcification63 53 typical (50%) Frequent (79-30%) HP:0002514
14 dementia63 53 Frequent (79-30%) HP:0000726
15 stroke63 53 Very frequent (99-80%) HP:0001297
16 tortuous cerebral arteries63 HP:0004938
17 recurrent cerebral hemorrhage63 HP:0004968
18 cerebellar hemorrhage63 HP:0011695
19 cerebral amyloid angiopathy63 53 Frequent (79-30%) HP:0011970
20 coma53 Frequent (79-30%)
21 mental deterioration53 Frequent (79-30%)
22 cerebral hemorrhage53 Very frequent (99-80%)
23 febrile seizures53 Very frequent (99-80%)
24 myoclonus53 Very frequent (99-80%)
25 dysphagia53 Very frequent (99-80%)
26 abnormality of the cerebral vasculature53 Very frequent (99-80%)
27 intellectual disability53 Very frequent (99-80%)
28 global developmental delay53 Very frequent (99-80%)
29 sensory impairment53 Very frequent (99-80%)
30 headache53 Very frequent (99-80%)
31 death in early adulthood53 Occasional (29-5%)

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

About this section

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,...

About this section

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

id Genetic test Affiliating Genes
1 Cerebral Amyloid Angiopathy, App-Related26 24 APP

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

About this section

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

35
Bone

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

About this section

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

About this section

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

About this section

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

69
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,...

About this section
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,...

About this section

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

About this section

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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet