MCID: CRB096
MIFTS: 35

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

Neuronal diseases, Bone diseases categories

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

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46OMIM, 32MalaCards
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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 cerebritis and amyloidosis, 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:46 605714

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

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Sources:
46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 35MESH via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
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


Aliases & Descriptions:

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 60
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


External Ids:

OMIM46 605714
ICD10 via Orphanet26 E85.4+, I68.0*
MESH via Orphanet35 C537944, D028243
SNOMED-CT via Orphanet57 56453003
UMLS via Orphanet61 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
1cerebritis11.2
2amyloidosis11.2
3hemorrhagic disease10.8
4cerebral amyloid angiopathy10.7
5alzheimer's disease10.7
6hereditary cerebral amyloid angiopathy10.7
7dementia10.6
8brain disease10.4
9cerebral degeneration10.4
10hereditary cerebral hemorrhage with amyloidosis10.4

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,...

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46OMIM, 48Orphanet
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Clinical features from OMIM:

605714

Clinical synopsis from OMIM:

605714

Symptoms:

48 (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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5CenterWatch, 41NIH 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,...

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

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32MalaCards
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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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Genetic Variations for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish,...

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants:

62
id Symbol AA change Variation ID 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,...

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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,...

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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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet