MCID: CRB096
MIFTS: 25

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

Neuronal, Bone categories

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 amyloidosis and amyloidosis cerebral, 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).

Description from OMIM:47 605714

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

Sources:
47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 36MESH via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Bone


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 61
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 Orphanet58 56453003
UMLS via Orphanet62 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
1amyloidosis11.2
2amyloidosis cerebral11.2
3hereditary amyloidosis11.2
4al amyloidosis10.9
5cerebral amyloid angiopathy10.8
6hereditary cerebral amyloid angiopathy10.8
7alzheimer's disease10.6
8brain disease10.4
9hereditary cerebral hemorrhage with amyloidosis10.4
10amyloidosis, secondary10.4

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

Clinical Features for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish,...

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

605714

Clinical synopsis from OMIM:

605714

Symptoms:

49 (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

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

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

Animal Models for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish,... or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish,...

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

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants:

63
id Symbol AA change Variation SNP ID
1APPp.Glu693GlnVAR_000017
2APPp.Glu693LysVAR_014216
3APPp.Asp694AsnVAR_014217
4APPp.Leu705ValVAR_032276

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

Sources:
1BioGPS, 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,...

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

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

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

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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet