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,...

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

Name: Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants 54 24 13
Cerebral Amyloid Angiopathy, App-Related 54 24 66 29
Hchwa-D 56 66
Familial Occipital Calcifications with Hemorrhagic Strokes Leukoencephalopathy Arterial Dysplasia Dementia 66
Hereditary Cerebral Hemorrhage with Amyloidosis, Piedmont Type 56
Hereditary Cerebral Hemorrhage with Amyloidosis, Flemish Type 56
Hereditary Cerebral Hemorrhage with Amyloidosis, Italian Type 56
Amyloidosis Hereditary with Cerebral Hemorrhage Dutch Variant 66
Hereditary Cerebral Hemorrhage with Amyloidosis, Arctic Type 56
Hereditary Cerebral Hemorrhage with Amyloidosis Italian Type 66
Cerebral Hemorrhage with Amyloidosis, Hereditary, Dutch Type 69
Hereditary Cerebral Hemorrhage with Amyloidosis, Dutch Type 56
Hereditary Cerebral Hemorrhage with Amyloidosis, Iowa Type 56
Hereditary Cerebral Hemorrhage with Amyloidosis Dutch Type 66
Cerebral Amyloid Angiopathy App-Related Flemish Variant 66
Cerebral Amyloid Angiopathy App-Related Italian Variant 66
Cerebral Amyloid Angiopathy App-Related Arctic Variant 66
Cerebral Amyloid Angiopathy App-Related Dutch Variant 66
Cerebral Amyloid Angiopathy App-Related Iowa Variant 66
Hereditary Cerebral Amyloid Angiopathy Dutch Type 66
Amyloidosis, Cerbroarterial, App-Related 24
Amyloidosis Cerebroarterial App-Related 66
Abeta Amyloidosis, Piedmont Type 56
Abeta Amyloidosis, Flemish Type 56
Abeta Amyloidosis, Italian Type 56
Abeta Amyloidosis, Arctic Type 56
Abetaa21g-Related Amyloidosis 56
Abetal34v-Related Amyloidosis 56
Abeta Amyloidosis, Dutch Type 56
Abeta Amyloidosis, Iowa Type 56
Abetaa21g Amyloidosis 56
Abetae22k Amyloidosis 56
Abetae22g Amyloidosis 56
Abetad23n Amyloidosis 56
Abetal34v Amyloidosis 56
Abetae22q Amyloidosis 56
Hchwa, Piedmont Type 56
Hchwa, Flemish Type 56
Hchwa, Italian Type 56
Hchwa, Arctic Type 56
Hchwa, Dutch Type 56
Hchwa, Iowa Type 56
Fochs-Ladd 66
Caa-App 66
Hchwad 66

Characteristics:

Orphanet epidemiological data:

56
abetaa21g amyloidosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult;
abeta amyloidosis, italian type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Elderly; Age of death: adult,elderly;
abeta amyloidosis, arctic type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Elderly;
abeta amyloidosis, iowa type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Elderly; Age of death: elderly;
abetal34v amyloidosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Elderly; Age of death: elderly;
abeta amyloidosis, dutch type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult;

HPO:

32
cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants:
Mortality/Aging death in early adulthood
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 605714
ICD10 via Orphanet 34 E85.4+ I68.0*
MESH via Orphanet 43 C537944 D028243
UMLS via Orphanet 70 C0268394 C2931672
MeSH 42 D028243

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

UniProtKB/Swiss-Prot : 66 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 headache, seizures and myoclonus. 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 : 54 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,...

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

id Related Disease Score Top Affiliating Genes
1 cerebral hemorrhage 10.3
2 cerebritis 10.3
3 amyloidosis 10.3

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

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:

56 32 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 headache 56 32 Very frequent (99-80%) HP:0002315
2 seizures 56 32 Frequent (79-30%),Frequent (79-30%) HP:0001250
3 myoclonus 56 32 Very frequent (99-80%) HP:0001336
4 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
5 gait disturbance 56 32 Very frequent (99-80%) HP:0001288
6 dysphagia 56 32 Very frequent (99-80%) HP:0002015
7 cerebral calcification 56 32 Frequent (79-30%) HP:0002514
8 behavioral abnormality 56 32 Very frequent (99-80%),Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%) HP:0000708
9 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
10 migraine 56 32 Very frequent (99-80%),Frequent (79-30%) HP:0002076
11 memory impairment 56 32 Very frequent (99-80%) HP:0002354
12 paresthesia 56 32 Very frequent (99-80%) HP:0003401
13 febrile seizures 56 32 Very frequent (99-80%) HP:0002373
14 dementia 56 32 Frequent (79-30%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0000726
15 coma 56 32 Frequent (79-30%),Very frequent (99-80%) HP:0001259
16 stroke 56 32 Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001297
17 cerebral hemorrhage 56 32 Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001342
18 sensory impairment 56 32 Very frequent (99-80%) HP:0003474
19 cerebral amyloid angiopathy 56 32 Frequent (79-30%) HP:0011970
20 cerebral ischemia 32 HP:0002637
21 death in early adulthood 56 Occasional (29-5%)
22 abnormality of the cerebral vasculature 56 Very frequent (99-80%),Frequent (79-30%)
23 mental deterioration 56 Frequent (79-30%),Very frequent (99-80%)
24 recurrent cerebral hemorrhage 32 HP:0004968
25 cerebellar hemorrhage 32 HP:0011695
26 tortuous cerebral arteries 32 HP:0004938

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

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

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

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

id Genetic test Affiliating Genes
1 Cerebral Amyloid Angiopathy, App-Related 29 24 APP

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

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

39
Bone

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

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

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

66
id Symbol AA change Variation ID SNP ID
1 APP p.Glu693Gln VAR_000017 rs63750579
2 APP p.Glu693Lys VAR_014216 rs63750579
3 APP p.Asp694Asn VAR_014217 rs63749810
4 APP p.Leu705Val VAR_032276 rs63750921

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 APP NM_000484.3(APP): c.2077G> C (p.Glu693Gln) single nucleotide variant Pathogenic rs63750579 GRCh37 Chromosome 21, 27264168: 27264168
2 APP NM_000484.3(APP): c.2075C> G (p.Ala692Gly) single nucleotide variant Pathogenic rs63750671 GRCh37 Chromosome 21, 27264170: 27264170
3 APP NM_000484.3(APP): c.2078A> G (p.Glu693Gly) single nucleotide variant Pathogenic rs63751039 GRCh37 Chromosome 21, 27264167: 27264167
4 APP NM_000484.3(APP): c.2077G> A (p.Glu693Lys) single nucleotide variant Pathogenic rs63750579 GRCh37 Chromosome 21, 27264168: 27264168
5 APP NM_000484.3(APP): c.2080G> A (p.Asp694Asn) single nucleotide variant Pathogenic rs63749810 GRCh37 Chromosome 21, 27264165: 27264165
6 subset of 26 genes:APP NC_000021.8: g.14714507_29216662dup14502156 duplication Pathogenic NCBI36 Chromosome 21, 13636378: 28138533

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

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

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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