MCID: CRB096
MIFTS: 30

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,...

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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:48 605714

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

About this section
Sources:
48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 37MESH via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
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 48
hereditary cerebral hemorrhage with amyloidosis, piedmont type 50
hereditary cerebral hemorrhage with amyloidosis, flemish type 50
hereditary cerebral hemorrhage with amyloidosis, italian type 50
hereditary cerebral hemorrhage with amyloidosis, arctic type 50
hereditary cerebral hemorrhage with amyloidosis, dutch type 50
hereditary cerebral hemorrhage with amyloidosis, iowa type 50
cerebral amyloid angiopathy, hereditary 63
hchwa, piedmont type 50
hchwa, flemish type 50
hchwa, italian type 50
hchwa, arctic type 50
hchwa, dutch type 50
hchwa, iowa type 50
hchwa-d 50


External Ids:

OMIM48 605714
ICD10 via Orphanet27 E85.4+, I68.0*
MESH via Orphanet37 C537944, D028243
SNOMED-CT via Orphanet60 56453003
UMLS via Orphanet64 C0268394, C2931672

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

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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,...

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

605714

Clinical features from OMIM:

605714

Symptoms:

50 (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,...

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

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

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

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

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

About this section

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

About this section
Sources:
34MalaCards
See all sources

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

34
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
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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

65
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,...

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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,...

About this section

Compounds 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

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet