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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47OMIM, 33MalaCards
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MalaCards: 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 cerebritis, and has symptoms including cerebral vascular anomalies, autosomal dominant inheritance 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:47 605714

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

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47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 36MESH via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
hereditary cerebral hemorrhage with amyloidosis, dutch type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants 47
hereditary cerebral hemorrhage with amyloidosis, piedmont type 49
hereditary cerebral hemorrhage with amyloidosis, flemish type 49
hereditary cerebral hemorrhage with amyloidosis, italian type 49
hereditary cerebral hemorrhage with amyloidosis, arctic type 49
hereditary cerebral hemorrhage with amyloidosis, dutch type 49
hereditary cerebral hemorrhage with amyloidosis, iowa type 49
cerebral amyloid angiopathy, hereditary 62
hchwa, piedmont type 49
hchwa, flemish type 49
hchwa, italian type 49
hchwa, arctic type 49
hchwa, dutch type 49
hchwa, iowa type 49
hchwa-d 49


External Ids:

OMIM47 605714
ICD10 via Orphanet26 E85.4+, I68.0*
MESH via Orphanet36 C537944, D028243
SNOMED-CT via Orphanet59 56453003
UMLS via Orphanet63 C0268394, C2931672

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

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17GeneCards, 18GeneDecks
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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
2cerebritis11.2
3amyloidosis11.2
4cerebral amyloid angiopathy10.7
5alzheimer's disease10.7
6dementia10.6
7hereditary 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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

605714

Clinical features from OMIM:

605714

Symptoms:

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

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

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42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants:

33
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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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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:

1
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet