MCID: HRD042
MIFTS: 43

Hereditary Cerebral Hemorrhage with Amyloidosis malady

Rare diseases category

Summaries for Hereditary Cerebral Hemorrhage with Amyloidosis

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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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44NIH 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 44
hereditary cerebral hemorrhage with amyloidosis, icelandic type 44
hereditary cerebral hemorrhage with amyloidosis, dutch type 44


Related Diseases for Hereditary Cerebral Hemorrhage with Amyloidosis

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18GeneCards, 19GeneDecks
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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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Hereditary Cerebral Hemorrhage with Amyloidosis

Drug clinical trials:

Search ClinicalTrials for Hereditary Cerebral Hemorrhage with Amyloidosis

Search NIH Clinical Center for Hereditary Cerebral Hemorrhage with Amyloidosis

Search CenterWatch 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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34MalaCards
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MalaCards organs/tissues related to Hereditary Cerebral Hemorrhage with Amyloidosis:

34
Brain

Animal Models for Hereditary Cerebral Hemorrhage with Amyloidosis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Hereditary Cerebral Hemorrhage with Amyloidosis:

38
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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53PubMed
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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, 16Gene 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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51PathCards, 54QIAGEN, 56Reactome, 31KEGG, 55R&D Systems, 5Cell Signaling Technology
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Compounds for genes affiliated with Hereditary Cerebral Hemorrhage with Amyloidosis

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46Novoseek, 3BitterDB, 52PharmGKB, 30IUPHAR, 12DrugBank, 25HMDB, 62Tocris 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
1leupeptin469.4CTSD, CST3, APP
2nh4cl469.4CTSD, APP, GFAP
3gold469.3LOX, SYP, CST3, CTSD
4formate469.2GFAP, APP, RPS27A
5chloroquine46 3 52 30 1213.1CTSD, RPS27A, SYP, APP
6carbon469.1APP, LOX, SYP, RPS27A
7curcumin469.0RPS27A, IL6, LOX, APP
8epinephrine46 25 1210.8RPS27A, IL6, SERPINF2, APP
9streptozotocin468.8GFAP, SYP, RPS27A
106-hydroxydopamine468.7GFAP, APP, RPS27A, CST3, CTSD
11cyclosporin a46 30 6210.7APP, IL6, RPS27A, CST3, CTSD
12gaba468.6GFAP, APP, LOX, SYP, RPS27A
13acetylcholine46 52 30 25 1212.6AGRN, RPS27A, SYP, APP, GFAP
14choline46 25 1210.6SYP, PSEN1, APP, GFAP
15silver468.6GFAP, SYP, RPS27A, CST3, CTSD
16butyrate468.6GFAP, APP, LOX, RPS27A, CTSD
17formaldehyde46 259.6GFAP, APP, SYP, RPS27A, CTSD
18matrigel468.5GFAP, LOX, CST3, AGRN
19paraffin468.4GFAP, LOX, SYP, RPS27A, CTSD
20valine468.4APP, LOX, PSEN1, RPS27A, CTSD
21lysine468.3SERPINF2, LOX, PSEN1, RPS27A, CTSD
22adenylate468.2GFAP, APP, LOX, RPS27A, CTSD
23superoxide46 259.2GFAP, LOX, PSEN1, SYP, CST3
24cisplatin46 52 62 1211.2GFAP, LOX, SYP, RPS27A, CST3, CTSD
25glycogen46 259.2GFAP, HSPB8, PSEN1, SYP, RPS27A
26nmda46 309.2GFAP, APP, PSEN1, SYP, RPS27A
27lactate468.1GFAP, LOX, IL6, RPS27A, CST3, CTSD
28leucine468.0CTSD, CST3, SYP, PSEN1, GFAP
29nitric oxide46 25 1210.0HSPB6, PSEN1, IL6, SYP, CTSD, AGRN
30arginine468.0GFAP, APP, SERPINF2, PSEN1, RPS27A, CST3
31h2o2468.0APP, LOX, PSEN1, SYP, RPS27A, CTSD
32oxygen46 258.9GFAP, HSPB6, SERPINF2, LOX, PSEN1, CTSD
33aspartate467.8GFAP, APP, PSEN1, RPS27A, CST3, CTSD
34dexamethasone46 52 30 1210.8GFAP, APP, LOX, IL6, SYP, RPS27A
35estrogen467.8GFAP, LOX, IL6, SYP, RPS27A, CTSD
36testosterone46 62 25 1210.8GFAP, APP, SERPINF2, IL6, SYP, RPS27A
37creatinine467.8GFAP, APP, IL6, SYP, RPS27A, CST3
38glutamate467.7GFAP, APP, PSEN1, SYP, RPS27A, CTSD
39cycloheximide467.6GFAP, LOX, PSEN1, IL6, RPS27A, CTSD
40glucose467.4GFAP, LOX, PSEN1, IL6, CST3, CTSD
41calcium46 52 25 1210.3GFAP, HSPB6, SERPINF2, PSEN1, SYP, CST3
42glutamine467.2CTSD, GFAP, APP, SERPINF2, PSEN1, SYP
43cholesterol46 30 25 1210.2GFAP, APP, SERPINF2, PSEN1, IL6, SYP
44vegf467.1GFAP, APP, SERPINF2, LOX, IL6, SYP
45cysteine467.1GFAP, APP, LOX, PSEN1, SYP, RPS27A
46alanine467.1GFAP, APP, SERPINF2, PSEN1, IL6, RPS27A
47tyrosine467.0GFAP, LOX, PSEN1, IL6, SYP, RPS27A
48lipid466.9GFAP, APP, SERPINF2, LOX, PSEN1, IL6
49retinoic acid46 257.9GFAP, APP, LOX, PSEN1, IL6, SYP
50serine466.6GFAP, HSPB6, APP, SERPINF2, PSEN1, SYP

GO Terms for genes affiliated with Hereditary Cerebral Hemorrhage with Amyloidosis

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17Gene 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
  • Lysates
  • Antibodies

Sources for Hereditary Cerebral Hemorrhage with Amyloidosis

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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