MCID: HRD042
MIFTS: 43

Hereditary Cerebral Hemorrhage with Amyloidosis malady

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Summaries for Hereditary Cerebral Hemorrhage with Amyloidosis

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 Cerebral amyloid angiopathy (caa) is a neurological condition in which amyloid protein is deposited onto the walls of the arteries of the brain (and less frequently, veins).  although caa often does not cause symptoms, it may cause bleeding into the brain (hemorrhagic stroke), dementia, or neurologic episodes in some patients.  the majority of caa cases occur in individuals who do not have a family history. however, two familial forms of caa have been identified. last updated: 2/5/2009

MalaCards: Hereditary Cerebral Hemorrhage with Amyloidosis, also known as hereditary cerebral hemorrhage with amyloidosis, icelandic type, is related to amyloidosis and cerebral amyloid angiopathy. An important gene associated with Hereditary Cerebral Hemorrhage with Amyloidosis is HSPB6 (heat shock protein, alpha-crystallin-related, B6), and among its related pathways are Alzheimers Disease Pathway and Cytosolic sensors of pathogen-associated DNA. The compounds leupeptin and nh4cl have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are respiratory system and immune system.

Aliases & Classifications for Hereditary Cerebral Hemorrhage with Amyloidosis

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43NIH Rare Diseases
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

hereditary cerebral hemorrhage with amyloidosis 43
hereditary cerebral hemorrhage with amyloidosis, icelandic type 43
hereditary cerebral hemorrhage with amyloidosis, dutch type 43


Related Diseases for Hereditary Cerebral Hemorrhage with Amyloidosis

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17GeneCards, 18GeneDecks
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Diseases related to Hereditary Cerebral Hemorrhage with Amyloidosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.6CTSD, CST3, RPS27A, PSEN1, APP
2cerebral amyloid angiopathy31.0HSPB6, APP, PSEN1, CST3
3dementia30.5GFAP, APP, PSEN1, SYP, RPS27A, CST3
4alzheimer's disease30.4AGRN, CTSD, CST3, RPS27A, SYP, IL6
5cerebritis11.2
6cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants10.7
7pancreatitis10.3
8hereditary cerebral amyloid angiopathy10.3
9charcot-marie-tooth neuropathy type 210.1HSPB8
10inclusion body myositis10.1APP
11oral submucous fibrosis10.1LOX
12melanotic neuroectodermal tumor10.1SYP
13dysembryoplastic neuroepithelial tumor10.1SYP
14semantic dementia10.1RPS27A
15poems syndrome10.1IL6
16giant cell glioblastoma10.1GFAP
17cerebrovascular disease10.1APP, CST3
18neuroaxonal dystrophy, infantile10.1APP, RPS27A
19progressive supranuclear palsy10.1APP, RPS27A
20lewy body dementia10.1RPS27A, APP
21tubular adenocarcinoma10.1CTSD, SYP
22spinal muscular atrophy 110.1SYP, RPS27A
23binswanger's disease10.1GFAP, SYP
24hirschsprung's disease10.0CTSD, SYP
25papillary ependymoma10.0GFAP, SYP
26central neurocytoma10.0GFAP, SYP
27liver cirrhosis10.0AGRN, LOX, SERPINF2
28choroid plexus papilloma10.0GFAP, SYP
29pineocytoma10.0GFAP, SYP
30pineoblastoma10.0GFAP, SYP
31subependymal giant cell astrocytoma10.0GFAP, SYP
32hemangioblastoma10.0GFAP, SYP
33periodontal disease10.0SERPINF2, IL6
34creutzfeldt-jakob disease10.0APP, RPS27A, CST3
35aneurysm10.0LOX, CST3, CTSD
36alzheimer disease type 110.0APP, PSEN1
37ganglioglioma10.0GFAP, SYP
38alexander disease10.0GFAP, RPS27A
39brain cancer10.0SYP, GFAP
40ganglioneuroma10.0SYP, GFAP
41coronary artery disease10.0CST3, IL6, SERPINF2
42pilocytic astrocytoma10.0SYP, GFAP
43myopathy10.0HSPB8, APP, RPS27A
44pre-eclampsia10.0CST3, IL6, SERPINF2
45central nervous system disease10.0APP, GFAP
46sepsis10.0CST3, IL6, SERPINF2
47motor neuron disease10.0RPS27A, HSPB8
48thrombocytosis10.0SERPINF2, IL6
49ependymoma10.0SYP, GFAP
50type 2 diabetes mellitus10.0SERPINF2, IL6, CST3

Graphical network of the top 20 diseases related to Hereditary Cerebral Hemorrhage with Amyloidosis:



Diseases related to hereditary cerebral hemorrhage with amyloidosis

Symptoms for Hereditary Cerebral Hemorrhage with Amyloidosis

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Drugs & Therapeutics for Hereditary Cerebral Hemorrhage with Amyloidosis

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Hereditary Cerebral Hemorrhage with Amyloidosis

Search NIH Clinical Center for Hereditary Cerebral Hemorrhage with Amyloidosis

Genetic Tests for Hereditary Cerebral Hemorrhage with Amyloidosis

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Anatomical Context for Hereditary Cerebral Hemorrhage with Amyloidosis

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33MalaCards
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MalaCards organs/tissues related to Hereditary Cerebral Hemorrhage with Amyloidosis:

33
Brain

Animal Models for Hereditary Cerebral Hemorrhage with Amyloidosis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hereditary Cerebral Hemorrhage with Amyloidosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.0HSPB8, LOX, PSEN1, IL6, AGRN
2MP:00053877.5HSPB8, APP, PSEN1, IL6, CTSD, GFAP
3MP:00053857.3GFAP, HSPB8, LOX, PSEN1, IL6, CST3
4MP:00053867.1GFAP, APP, LOX, PSEN1, IL6, CTSD
5MP:00053697.1AGRN, GFAP, HSPB8, APP, LOX, PSEN1
6MP:00036316.8GFAP, APP, PSEN1, IL6, SYP, CST3
7MP:00107686.7GFAP, HSPB8, APP, LOX, PSEN1, IL6
8MP:00053766.7GFAP, HSPB8, APP, SERPINF2, LOX, PSEN1

Publications for Hereditary Cerebral Hemorrhage with Amyloidosis

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52PubMed
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Articles related to Hereditary Cerebral Hemorrhage with Amyloidosis:

(show top 50)    (show all 54)
idTitleAuthorsYear
1
Extracellular matrix modulator lysyl oxidase colocalizes with amyloid-beta pathology in Alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis--Dutch type. (23267843)
2013
2
Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP. (20697050)
2010
3
Small heat shock proteins associated with cerebral amyloid angiopathy of hereditary cerebral hemorrhage with amyloidosis (Dutch type) induce interleukin-6 secretion. (17629591)
2009
4
Cerebral vascular accumulation of Dutch-type Abeta42, but not wild-type Abeta42, in hereditary cerebral hemorrhage with amyloidosis, Dutch type. (17628026)
2007
5
Hereditary cerebral hemorrhage with amyloidosis-Dutch type. (16382777)
2005
6
Microbleeds in hereditary cerebral hemorrhage with amyloidosis-Dutch type. (15824369)
2005
7
Glial reactions and the clearance of amyloid beta protein in the brains of patients with hereditary cerebral hemorrhage with amyloidosis-Dutch type. (15014955)
2004
8
Abeta is targeted to the vasculature in a mouse model of hereditary cerebral hemorrhage with amyloidosis. (15311281)
2004
9
Enhanced Abeta40 deposition was associated with increased Abeta42-43 in cerebral vasculature with Dutch-type hereditary cerebral hemorrhage with amyloidosis (HCHWA-D). (12480745)
2002
10
Dementia in hereditary cerebral hemorrhage with amyloidosis-Dutch type is associated with cerebral amyloid angiopathy but is independent of plaques and neurofibrillary tangles. (11761474)
2001
11
Heparan sulfate proteoglycan expression in cerebrovascular amyloid beta deposits in Alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis (Dutch) brains. (11761721)
2001
12
Distinct properties of wild-type and the amyloidogenic human cystatin C variant of hereditary cerebral hemorrhage with amyloidosis, Icelandic type. (11299325)
2001
13
Age-related plaque morphology and C-terminal heterogeneity of amyloid beta in Dutch-type hereditary cerebral hemorrhage with amyloidosis. (10787040)
2000
14
Amyloid beta protein (Abeta) starts to deposit as plasma membrane-bound form in diffuse plaques of brains from hereditary cerebral hemorrhage with amyloidosis-Dutch type, Alzheimer disease and nondemented aged subjects. (10952062)
2000
15
Cellular processing of the amyloidogenic cystatin C variant of hereditary cerebral hemorrhage with amyloidosis, Icelandic type. (10524281)
1999
16
Hereditary cerebral hemorrhage with amyloidosis--Dutch type (HCHWA-D): a review of the variety in phenotypic expression. (10524288)
1999
17
Ultrastructural evidence of early non-fibrillar Abeta42 in the capillary basement membrane of patients with hereditary cerebral hemorrhage with amyloidosis, Dutch type. (10603032)
1999
18
Microvasculopathy is associated with the number of cerebrovascular lesions in hereditary cerebral hemorrhage with amyloidosis, Dutch type. (9707198)
1998
19
Instability of the amyloidogenic cystatin C variant of hereditary cerebral hemorrhage with amyloidosis, Icelandic type. (9565605)
1998
20
Secondary microvascular degeneration in amyloid angiopathy of patients with hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D). (9542588)
1998
21
Association of vascular amyloid beta and cells of the mononuclear phagocyte system in hereditary cerebral hemorrhage with amyloidosis (Dutch) and Alzheimer disease. (9056541)
1997
22
Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D): II--A review of histopathological aspects. (8737927)
1996
23
Hereditary cerebral hemorrhage with amyloidosis-Dutch type: better correlation of cognitive deterioration with advancing age than with number of focal lesions or white matter hyperintensities. (8939282)
1996
24
A beta-amyloid peptide variant related with familial Alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis is poorly eliminated by cathepsin D. (8955370)
1996
25
The length of amyloid-beta in hereditary cerebral hemorrhage with amyloidosis, Dutch type. Implications for the role of amyloid-beta 1-42 in Alzheimer's disease. (8943274)
1996
26
Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D): I--A review of clinical, radiologic and genetic aspects. (8737926)
1996
27
Cortical tissue of patients with hereditary cerebral hemorrhage with amyloidosis (Dutch) contains various extracellular matrix deposits. (7637318)
1995
28
Hereditary cerebral hemorrhage with amyloidosis (Dutch): a model for congophilic plaque formation without neurofibrillary pathology. (7839831)
1994
29
Microglia in diffuse plaques in hereditary cerebral hemorrhage with amyloidosis (Dutch). An immunohistochemical study. (7521904)
1994
30
Co-localization of beta/A4 and cystatin C in cortical blood vessels in Dutch, but not in Icelandic hereditary cerebral hemorrhage with amyloidosis. (8085435)
1994
31
Ubiquitinated neurites are associated with preamyloid and cerebral amyloid beta deposits in patients with hereditary cerebral hemorrhage with amyloidosis Dutch type. (8384771)
1993
32
Hereditary cerebral hemorrhage with amyloidosis-Dutch type. (8240526)
1993
33
Morphology of cerebral plaque-like lesions in hereditary cerebral hemorrhage with amyloidosis (Dutch). (1471474)
1992
34
Hereditary cerebral hemorrhage with amyloidosis-Dutch type: a study of fibrinolysis. (1615471)
1992
35
Acute phase proteins but not activated microglial cells are present in parenchymal beta/A4 deposits in the brains of patients with hereditary cerebral hemorrhage with amyloidosis-Dutch type. (1380141)
1992
36
Alzheimer A4 peptide, gamma-trace, leukoencephalopathy, and hereditary cerebral hemorrhage with amyloidosis-Dutch type. (2042952)
1991
37
DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type) (1679289)
1991
38
Hereditary cerebral hemorrhage with amyloidosis--Dutch type: its importance for Alzheimer research. (1716015)
1991
39
Hereditary cerebral hemorrhage with amyloidosis--Dutch type: a congophilic angiopathy. An overview. (1776734)
1991
40
Hereditary cerebral hemorrhage with amyloidosis--Dutch type. Tc-99m HM-PAO single photon emission computed tomography. (2398939)
1990
41
Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch). (1971458)
1990
42
Dementia in hereditary cerebral hemorrhage with amyloidosis-Dutch type. (2396937)
1990
43
Parenchymal preamyloid and amyloid deposits in the brains of patients with hereditary cerebral hemorrhage with amyloidosis--Dutch type. (2274275)
1990
44
Hereditary cerebral hemorrhage with amyloidosis--Dutch type. Research-Group Hereditary Cerebral Amyloid-Angiopathy. (2555088)
1989
45
Different processing of Alzheimer's beta-protein precursor in the vessel wall of patients with hereditary cerebral hemorrhage with amyloidosis-Dutch type. (3281669)
1988
46
Immunohistochemical characterization of the amyloid deposits and quantitation of pertinent cerebrospinal fluid proteins in hereditary cerebral hemorrhage with amyloidosis. (2436360)
1987
47
Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of gamma-trace basic protein (cystatin C). (3517880)
1986
48
Abnormal metabolism or reduced transport of CSF gamma-trace microprotein in hereditary cerebral hemorrhage with amyloidosis. (3982473)
1985
49
Abnormal metabolism of gamma-trace alkaline microprotein. The basic defect in hereditary cerebral hemorrhage with amyloidosis. (6390199)
1984
50
Amyloid fibril in hereditary cerebral hemorrhage with amyloidosis (HCHWA) is related to the gastroentero-pancreatic neuroendocrine protein, gamma trace. (6886625)
1983

Variations for Hereditary Cerebral Hemorrhage with Amyloidosis

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Expression for genes affiliated with Hereditary Cerebral Hemorrhage with Amyloidosis

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Cerebral Hemorrhage with Amyloidosis

Search GEO for disease gene expression data for Hereditary Cerebral Hemorrhage with Amyloidosis.

Pathways for genes affiliated with Hereditary Cerebral Hemorrhage with Amyloidosis

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50PathCards, 53QIAGEN, 55Reactome, 30KEGG, 54R&D Systems, 5Cell Signaling Technology
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Compounds for genes affiliated with Hereditary Cerebral Hemorrhage with Amyloidosis

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45Novoseek, 3BitterDB, 51PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB, 61Tocris Bioscience
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Compounds related to Hereditary Cerebral Hemorrhage with Amyloidosis according to GeneCards/GeneDecks:

(show top 50)    (show all 100)
idCompoundScoreTop Affiliating Genes
1leupeptin459.4CTSD, CST3, APP
2nh4cl459.4CTSD, APP, GFAP
3gold459.3LOX, SYP, CST3, CTSD
4formate459.2GFAP, APP, RPS27A
5chloroquine45 3 51 29 1113.1CTSD, RPS27A, SYP, APP
6carbon459.1APP, LOX, SYP, RPS27A
7curcumin459.0RPS27A, IL6, LOX, APP
8epinephrine45 24 1110.8RPS27A, IL6, SERPINF2, APP
9streptozotocin458.8GFAP, SYP, RPS27A
106-hydroxydopamine458.7GFAP, APP, RPS27A, CST3, CTSD
11cyclosporin a45 29 6110.7APP, IL6, RPS27A, CST3, CTSD
12gaba458.6GFAP, APP, LOX, SYP, RPS27A
13acetylcholine45 51 29 24 1112.6AGRN, RPS27A, SYP, APP, GFAP
14choline45 24 1110.6SYP, PSEN1, APP, GFAP
15silver458.6GFAP, SYP, RPS27A, CST3, CTSD
16butyrate458.6GFAP, APP, LOX, RPS27A, CTSD
17formaldehyde45 249.6GFAP, APP, SYP, RPS27A, CTSD
18matrigel458.5GFAP, LOX, CST3, AGRN
19paraffin458.4GFAP, LOX, SYP, RPS27A, CTSD
20valine458.4APP, LOX, PSEN1, RPS27A, CTSD
21lysine458.3SERPINF2, LOX, PSEN1, RPS27A, CTSD
22adenylate458.2GFAP, APP, LOX, RPS27A, CTSD
23superoxide45 249.2GFAP, LOX, PSEN1, SYP, CST3
24cisplatin45 51 61 1111.2GFAP, LOX, SYP, RPS27A, CST3, CTSD
25glycogen45 249.2GFAP, HSPB8, PSEN1, SYP, RPS27A
26nmda45 299.2GFAP, APP, PSEN1, SYP, RPS27A
27lactate458.1GFAP, LOX, IL6, RPS27A, CST3, CTSD
28leucine458.0CTSD, CST3, SYP, PSEN1, GFAP
29nitric oxide45 24 1110.0HSPB6, PSEN1, IL6, SYP, CTSD, AGRN
30arginine458.0GFAP, APP, SERPINF2, PSEN1, RPS27A, CST3
31h2o2458.0APP, LOX, PSEN1, SYP, RPS27A, CTSD
32oxygen45 248.9GFAP, HSPB6, SERPINF2, LOX, PSEN1, CTSD
33aspartate457.8GFAP, APP, PSEN1, RPS27A, CST3, CTSD
34dexamethasone45 51 29 1110.8GFAP, APP, LOX, IL6, SYP, RPS27A
35estrogen457.8GFAP, LOX, IL6, SYP, RPS27A, CTSD
36testosterone45 61 24 1110.8GFAP, APP, SERPINF2, IL6, SYP, RPS27A
37creatinine457.8GFAP, APP, IL6, SYP, RPS27A, CST3
38glutamate457.7GFAP, APP, PSEN1, SYP, RPS27A, CTSD
39cycloheximide457.6GFAP, LOX, PSEN1, IL6, RPS27A, CTSD
40glucose457.4GFAP, LOX, PSEN1, IL6, CST3, CTSD
41calcium45 51 24 1110.3GFAP, HSPB6, SERPINF2, PSEN1, SYP, CST3
42glutamine457.2CTSD, GFAP, APP, SERPINF2, PSEN1, SYP
43cholesterol45 29 24 1110.2GFAP, APP, SERPINF2, PSEN1, IL6, SYP
44vegf457.1GFAP, APP, SERPINF2, LOX, IL6, SYP
45cysteine457.1GFAP, APP, LOX, PSEN1, SYP, RPS27A
46alanine457.1GFAP, APP, SERPINF2, PSEN1, IL6, RPS27A
47tyrosine457.0GFAP, LOX, PSEN1, IL6, SYP, RPS27A
48lipid456.9GFAP, APP, SERPINF2, LOX, PSEN1, IL6
49retinoic acid45 247.9GFAP, APP, LOX, PSEN1, IL6, SYP
50serine456.6GFAP, HSPB6, APP, SERPINF2, PSEN1, SYP

GO Terms for genes affiliated with Hereditary Cerebral Hemorrhage with Amyloidosis

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16Gene Ontology
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Cellular components related to Hereditary Cerebral Hemorrhage with Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ciliary rootletGO:0352539.3APP, PSEN1
2dendritic shaftGO:0431989.0APP, PSEN1
3cell surfaceGO:0099868.6AGRN, PSEN1, SERPINF2, APP
4extracellular vesicular exosomeGO:0700628.5AGRN, CTSD, CST3, RPS27A, APP
5extracellular spaceGO:0056158.3SERPINF2, LOX, IL6, CST3, CTSD, AGRN
6extracellular regionGO:0055768.0AGRN, APP, SERPINF2, LOX, IL6, CST3

Biological processes related to Hereditary Cerebral Hemorrhage with Amyloidosis according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1collagen fibril organizationGO:0301999.9SERPINF2, LOX
2negative regulation of endopeptidase activityGO:0109519.8CST3, SERPINF2, APP
3acute-phase responseGO:0069539.8IL6, SERPINF2
4smooth endoplasmic reticulum calcium ion homeostasisGO:0515639.6PSEN1, APP
5regulation of protein bindingGO:0433939.6PSEN1, APP
6nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358729.5RPS27A, APP
7platelet activationGO:0301689.5IL6, SERPINF2, APP
8neuron apoptotic processGO:0514029.5APP, PSEN1
9autophagic vacuole assemblyGO:0000459.4CTSD, PSEN1
10positive regulation of smooth muscle cell proliferationGO:0486619.4IL6, SERPINF2
11Notch receptor processingGO:0072209.4PSEN1, RPS27A
12blood vessel developmentGO:0015689.3LOX, PSEN1
13Notch signaling pathwayGO:0072199.1APP, PSEN1, RPS27A
14positive regulation of transcription from RNA polymerase II promoterGO:0459448.8APP, SERPINF2, IL6, RPS27A, AGRN
15positive regulation of apoptotic processGO:0430658.6RPS27A, IL6, PSEN1
16extracellular matrix organizationGO:0301987.8AGRN, GFAP, APP, LOX, PSEN1, CTSD

Molecular functions related to Hereditary Cerebral Hemorrhage with Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endopeptidase inhibitor activityGO:0048669.9CST3, SERPINF2
2aspartic-type endopeptidase activityGO:0041908.9CTSD, PSEN1
3protein bindingGO:0055156.4AGRN, HSPB8, HSPB6, APP, SERPINF2, LOX

Products for genes affiliated with Hereditary Cerebral Hemorrhage with Amyloidosis

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  • Antibodies
  • Proteins
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Sources for Hereditary Cerebral Hemorrhage with Amyloidosis

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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