MCID: CRB096
MIFTS: 31

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

Genetic diseases, Neuronal diseases, Bone diseases, Rare diseases categories

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

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OMIM:46 Cerebral amyloid angiopathy, or cerebroarterial amyloidosis, refers to a pathologic process in which amyloid protein... (605714) more...

MalaCards based summary: Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants, also known as hereditary cerebral hemorrhage with amyloidosis, piedmont type, is related to hereditary cerebral hemorrhage with amyloidosis and cerebral hemorrhage, and has symptoms including behavioral abnormality, migraine and intracranial hemorrhage. An important gene associated with Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants is APP (amyloid beta (A4) precursor protein). Affiliated tissues include bone.

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

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Sources:
46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet, 62UMLS via Orphanet, 35MESH via Orphanet
See all sources

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

Name: Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants 46
Hereditary Cerebral Hemorrhage with Amyloidosis, Piedmont Type 48
Hereditary Cerebral Hemorrhage with Amyloidosis, Flemish Type 48
Hereditary Cerebral Hemorrhage with Amyloidosis, Italian Type 48
Hereditary Cerebral Hemorrhage with Amyloidosis, Arctic Type 48
Hereditary Cerebral Hemorrhage with Amyloidosis, Dutch Type 48
Hereditary Cerebral Hemorrhage with Amyloidosis, Iowa Type 48
Cerebral Amyloid Angiopathy, Hereditary 61
 
Hchwa, Piedmont Type 48
Hchwa, Flemish Type 48
Hchwa, Italian Type 48
Hchwa, Arctic Type 48
Hchwa, Dutch Type 48
Hchwa, Iowa Type 48
Hchwa-D 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
hereditary cerebral hemorrhage with amyloidosis, dutch type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Adult


External Ids:

OMIM46 605714
ICD10 via Orphanet27 E85.4+, I68.0*
UMLS via Orphanet62 C0268394, C2931672
MESH via Orphanet35 C537944, D028243

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hereditary cerebral hemorrhage with amyloidosis11.2
2cerebral hemorrhage11.2
3cerebritis11.2
4amyloidosis11.2
5alzheimer's disease10.8
6cerebral amyloid angiopathy10.6
7dementia10.6
8hereditary cerebral amyloid angiopathy10.5

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:

 48 (show all 19)
  • facial pain/cephalalgia/migraine
  • transient cerebral ischemia/stroke
  • intracranial/cerebral/meningeal hemorrhage
  • autosomal dominant inheritance
  • psychic/psychomotor regression/dementia/intellectual decline
  • psychic/behavioural troubles
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • cerebral vascular anomalies
  • abnormal gait
  • myoclonus/fasciculations
  • troubles of memory/amnesia/hypermnesia
  • motor deficit/trouble
  • sensitive trouble/deficit
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • obnubilation/coma/lethargia/desorientation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intracranial/cerebral calcifications
  • early death/lethality

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

(show all 27)
id Description Frequency HPO Source Accession
1 behavioral abnormality hallmark (90%) HP:0000708
2 migraine hallmark (90%) HP:0002076
3 intracranial hemorrhage hallmark (90%) HP:0002170
4 developmental regression hallmark (90%) HP:0002376
5 cerebral ischemia hallmark (90%) HP:0002637
6 paresthesia hallmark (90%) HP:0003401
7 reduced consciousness/confusion hallmark (90%) HP:0004372
8 cognitive impairment hallmark (90%) HP:0100543
9 gait disturbance hallmark (90%) HP:0001288
10 memory impairment hallmark (90%) HP:0002354
11 involuntary movements hallmark (90%) HP:0004305
12 feeding difficulties in infancy hallmark (90%) HP:0008872
13 seizures typical (50%) HP:0001250
14 cerebral calcification typical (50%) HP:0002514
15 cerebral ischemia typical (50%) HP:0002637
16 behavioral abnormality typical (50%) HP:0000708
17 migraine typical (50%) HP:0002076
18 developmental regression typical (50%) HP:0002376
19 reduced consciousness/confusion typical (50%) HP:0004372
20 autosomal dominant inheritance HP:0000006
21 dementia HP:0000726
22 stroke HP:0001297
23 cerebral ischemia HP:0002637
24 tortuous cerebral arteries HP:0004938
25 recurrent cerebral hemorrhage HP:0004968
26 cerebellar hemorrhage HP:0011695
27 cerebral amyloid angiopathy HP:0011970

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

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Drug clinical trials:

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

Search 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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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:

32
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:

63
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:

7
id Gene Name Type Significance SNP ID Assembly Location
1APPNM_000484.3(APP): c.2077G> C (p.Glu693Gln)single nucleotide variantPathogenicrs63750579GRCh37Chr 21, 27264168: 27264168
2APPNM_000484.3(APP): c.2075C> G (p.Ala692Gly)single nucleotide variantPathogenicrs63750671GRCh37Chr 21, 27264170: 27264170
3APPNM_000484.3(APP): c.2078A> G (p.Glu693Gly)single nucleotide variantPathogenicrs63751039GRCh37Chr 21, 27264167: 27264167
4APPNM_000484.3(APP): c.2077G> A (p.Glu693Lys)single nucleotide variantPathogenicrs63750579GRCh37Chr 21, 27264168: 27264168
5APPNM_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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Expression patterns in normal tissues for genes affiliated with Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

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

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet