MCID: CRB096
MIFTS: 30

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

Genetic diseases, Neuronal diseases, Bone diseases, Rare diseases categories
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Summaries for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish,...

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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 facial pain/cephalalgia/migraine, transient cerebral ischemia/stroke and intracranial/cerebral/meningeal 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.

Description from OMIM:46 605714

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

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Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS 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 62
 
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 Orphanet26 E85.4+, I68.0*
UMLS via Orphanet63 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
  • seizures/epilepsy/absences/spasms/status epilepticus
  • obnubilation/coma/lethargia/desorientation
  • 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
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • early death/lethality
  • intracranial/cerebral calcifications

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

(show all 39)
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 intracranial hemorrhage hallmark (90%) HP:0002170
6 developmental regression hallmark (90%) HP:0002376
7 cerebral ischemia hallmark (90%) HP:0002637
8 paresthesia hallmark (90%) HP:0003401
9 reduced consciousness/confusion hallmark (90%) HP:0004372
10 cognitive impairment hallmark (90%) HP:0100543
11 behavioral abnormality hallmark (90%) HP:0000708
12 gait disturbance hallmark (90%) HP:0001288
13 intracranial hemorrhage hallmark (90%) HP:0002170
14 memory impairment hallmark (90%) HP:0002354
15 developmental regression hallmark (90%) HP:0002376
16 cerebral ischemia hallmark (90%) HP:0002637
17 involuntary movements hallmark (90%) HP:0004305
18 feeding difficulties in infancy hallmark (90%) HP:0008872
19 migraine hallmark (90%) HP:0002076
20 intracranial hemorrhage hallmark (90%) HP:0002170
21 cerebral ischemia hallmark (90%) HP:0002637
22 behavioral abnormality hallmark (90%) HP:0000708
23 developmental regression hallmark (90%) HP:0002376
24 seizures typical (50%) HP:0001250
25 cerebral calcification typical (50%) HP:0002514
26 cerebral ischemia typical (50%) HP:0002637
27 behavioral abnormality typical (50%) HP:0000708
28 migraine typical (50%) HP:0002076
29 seizures typical (50%) HP:0001250
30 developmental regression typical (50%) HP:0002376
31 reduced consciousness/confusion typical (50%) HP:0004372
32 autosomal dominant inheritance HP:0000006
33 dementia HP:0000726
34 stroke HP:0001297
35 cerebral ischemia HP:0002637
36 tortuous cerebral arteries HP:0004938
37 recurrent cerebral hemorrhage HP:0004968
38 cerebellar hemorrhage HP:0011695
39 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:

64
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:

6
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

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet