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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NIH Rare Diseases:42 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 based summary: 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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Hereditary Cerebral Hemorrhage with Amyloidosis, Aliases & Descriptions:

Name: Hereditary Cerebral Hemorrhage with Amyloidosis 42 62
Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Type 42
 
Hereditary Cerebral Hemorrhage with Amyloidosis, Dutch Type 42


Classifications:

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


Related Diseases for Hereditary Cerebral Hemorrhage with Amyloidosis

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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 81)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.2CTSD, CST3, RPS27A, PSEN1, APP
2cerebral amyloid angiopathy30.9HSPB6, APP, PSEN1, CST3
3dementia29.8GFAP, APP, PSEN1, SYP, RPS27A, CST3
4alzheimer's disease28.7AGRN, CTSD, CST3, RPS27A, SYP, IL6
5cerebral hemorrhage11.2
6cerebritis11.2
7cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants10.7
8charcot-marie-tooth neuropathy type 210.5HSPB8
9inclusion body myositis10.5APP
10oral submucous fibrosis10.5LOX
11melanotic neuroectodermal tumor10.5SYP
12dysembryoplastic neuroepithelial tumor10.5SYP
13semantic dementia10.4RPS27A
14poems syndrome10.4IL6
15giant cell glioblastoma10.4GFAP
16pancreatitis10.3
17hereditary cerebral amyloid angiopathy10.3
18cerebrovascular disease10.3APP, CST3
19neuroaxonal dystrophy, infantile10.3APP, RPS27A
20progressive supranuclear palsy10.3APP, RPS27A
21lewy body dementia10.3RPS27A, APP
22tubular adenocarcinoma10.3CTSD, SYP
23spinal muscular atrophy 110.3SYP, RPS27A
24binswanger's disease10.2GFAP, SYP
25hirschsprung's disease10.2CTSD, SYP
26papillary ependymoma10.2GFAP, SYP
27central neurocytoma10.2GFAP, SYP
28liver cirrhosis10.2AGRN, LOX, SERPINF2
29choroid plexus papilloma10.2GFAP, SYP
30pineocytoma10.2GFAP, SYP
31pineoblastoma10.2GFAP, SYP
32subependymal giant cell astrocytoma10.2GFAP, SYP
33hemangioblastoma10.2GFAP, SYP
34periodontal disease10.2SERPINF2, IL6
35creutzfeldt-jakob disease10.2APP, RPS27A, CST3
36aneurysm10.2LOX, CST3, CTSD
37alzheimer disease type 110.2APP, PSEN1
38ganglioglioma10.2GFAP, SYP
39alexander disease10.2GFAP, RPS27A
40brain cancer10.2SYP, GFAP
41ganglioneuroma10.2SYP, GFAP
42coronary artery anomaly10.2CST3, IL6, SERPINF2
43pilocytic astrocytoma10.2SYP, GFAP
44myopathy10.1HSPB8, APP, RPS27A
45pre-eclampsia10.1CST3, IL6, SERPINF2
46central nervous system disease10.1APP, GFAP
47sepsis10.1CST3, IL6, SERPINF2
48motor neuron disease10.1RPS27A, HSPB8
49thrombocytosis10.1SERPINF2, IL6
50ependymoma10.1SYP, GFAP

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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Drug clinical trials:

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

32
Brain

Animal Models for Hereditary Cerebral Hemorrhage with Amyloidosis or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Cerebral Hemorrhage with Amyloidosis:

36
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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Articles related to Hereditary Cerebral Hemorrhage with Amyloidosis:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
Amyloid I^ in hereditary cerebral hemorrhage with amyloidosis-Dutch type. (24870607)
2014
2
Extracellular matrix modulator lysyl oxidase colocalizes with amyloid-beta pathology in Alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis--Dutch type. (23267843)
2013
3
Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP. (20697050)
2010
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
Hereditary cerebral hemorrhage with amyloidosis Dutch type (AbetaPP 693): decreased plasma amyloid-beta 42 concentration. (14678776)
2003
10
Enhanced Abeta40 deposition was associated with increased Abeta42-43 in cerebral vasculature with Dutch-type hereditary cerebral hemorrhage with amyloidosis (HCHWA-D). (12480745)
2002
11
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
12
Heparan sulfate proteoglycan expression in cerebrovascular amyloid beta deposits in Alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis (Dutch) brains. (11761721)
2001
13
Distinct properties of wild-type and the amyloidogenic human cystatin C variant of hereditary cerebral hemorrhage with amyloidosis, Icelandic type. (11299325)
2001
14
Age-related plaque morphology and C-terminal heterogeneity of amyloid beta in Dutch-type hereditary cerebral hemorrhage with amyloidosis. (10787040)
2000
15
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
16
Cellular processing of the amyloidogenic cystatin C variant of hereditary cerebral hemorrhage with amyloidosis, Icelandic type. (10524281)
1999
17
Hereditary cerebral hemorrhage with amyloidosis--Dutch type (HCHWA-D): a review of the variety in phenotypic expression. (10524288)
1999
18
Ultrastructural evidence of early non-fibrillar Abeta42 in the capillary basement membrane of patients with hereditary cerebral hemorrhage with amyloidosis, Dutch type. (10603032)
1999
19
Microvasculopathy is associated with the number of cerebrovascular lesions in hereditary cerebral hemorrhage with amyloidosis, Dutch type. (9707198)
1998
20
Instability of the amyloidogenic cystatin C variant of hereditary cerebral hemorrhage with amyloidosis, Icelandic type. (9565605)
1998
21
Secondary microvascular degeneration in amyloid angiopathy of patients with hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D). (9542588)
1998
22
Association of vascular amyloid beta and cells of the mononuclear phagocyte system in hereditary cerebral hemorrhage with amyloidosis (Dutch) and Alzheimer disease. (9056541)
1997
23
Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D): II--A review of histopathological aspects. (8737927)
1996
24
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
25
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
26
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
27
Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D): I--A review of clinical, radiologic and genetic aspects. (8737926)
1996
28
Cortical tissue of patients with hereditary cerebral hemorrhage with amyloidosis (Dutch) contains various extracellular matrix deposits. (7637318)
1995
29
Hereditary cerebral hemorrhage with amyloidosis (Dutch): a model for congophilic plaque formation without neurofibrillary pathology. (7839831)
1994
30
Microglia in diffuse plaques in hereditary cerebral hemorrhage with amyloidosis (Dutch). An immunohistochemical study. (7521904)
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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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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Compounds for genes affiliated with Hereditary Cerebral Hemorrhage with Amyloidosis

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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
1leupeptin449.4CST3, CTSD, APP
2nh4cl449.4GFAP, APP, CTSD
3gold449.3CTSD, CST3, LOX, SYP
4formate449.2RPS27A, APP, GFAP
5chloroquine44 2 50 28 1113.1APP, SYP, CTSD, RPS27A
6carbon449.1LOX, RPS27A, APP, SYP
7curcumin449.0IL6, APP, RPS27A, LOX
8epinephrine44 24 1110.8APP, IL6, RPS27A, SERPINF2
9streptozotocin448.8SYP, GFAP, RPS27A
106-hydroxydopamine448.7APP, RPS27A, GFAP, CTSD, CST3
11cyclosporin a44 28 6110.7CST3, CTSD, IL6, APP, RPS27A
12gaba448.6SYP, GFAP, RPS27A, APP, LOX
13acetylcholine44 50 28 24 1112.6SYP, AGRN, RPS27A, APP, GFAP
14choline44 24 1110.6SYP, PSEN1, APP, GFAP
15silver448.6GFAP, RPS27A, CST3, CTSD, SYP
16butyrate448.6CTSD, RPS27A, LOX, APP, GFAP
17formaldehyde44 249.6CTSD, GFAP, APP, SYP, RPS27A
18matrigel448.5AGRN, GFAP, CST3, LOX
19paraffin448.4CTSD, RPS27A, GFAP, LOX, SYP
20valine448.4APP, LOX, PSEN1, RPS27A, CTSD
21lysine448.3LOX, RPS27A, CTSD, PSEN1, SERPINF2
22adenylate448.2GFAP, CTSD, RPS27A, LOX, APP
23superoxide44 249.2PSEN1, SYP, CST3, GFAP, LOX
24cisplatin44 50 61 1111.2CTSD, CST3, SYP, GFAP, RPS27A, LOX
25glycogen44 249.2GFAP, PSEN1, SYP, RPS27A, HSPB8
26nmda44 289.2PSEN1, SYP, GFAP, RPS27A, APP
27lactate448.1CTSD, CST3, LOX, RPS27A, GFAP, IL6
28leucine448.0GFAP, CTSD, SYP, PSEN1, CST3
29nitric oxide44 24 1110.0CTSD, AGRN, PSEN1, HSPB6, IL6, SYP
30arginine448.0SERPINF2, PSEN1, CST3, RPS27A, GFAP, APP
31h2o2448.0CTSD, RPS27A, SYP, PSEN1, LOX, APP
32oxygen44 248.9GFAP, CTSD, SERPINF2, HSPB6, LOX, PSEN1
33aspartate447.8CST3, RPS27A, PSEN1, APP, GFAP, CTSD
34dexamethasone44 50 28 1110.8SYP, IL6, GFAP, LOX, APP, RPS27A
35estrogen447.8SYP, RPS27A, IL6, GFAP, LOX, CTSD
36testosterone44 61 24 1110.8IL6, RPS27A, SYP, CTSD, GFAP, SERPINF2
37creatinine447.8RPS27A, IL6, APP, GFAP, CST3, SYP
38glutamate447.7GFAP, APP, PSEN1, CTSD, RPS27A, SYP
39cycloheximide447.6IL6, LOX, PSEN1, RPS27A, CTSD, GFAP
40glucose447.4GFAP, PSEN1, IL6, LOX, CST3, CTSD
41calcium44 50 24 1110.3PSEN1, SYP, CST3, SERPINF2, HSPB6, GFAP
42glutamine447.2APP, CTSD, CST3, RPS27A, GFAP, SERPINF2
43cholesterol44 28 24 1110.2APP, SERPINF2, PSEN1, IL6, SYP, CST3
44vegf447.1GFAP, IL6, APP, SERPINF2, LOX, SYP
45cysteine447.1LOX, PSEN1, SYP, RPS27A, CST3, CTSD
46alanine447.1CST3, GFAP, APP, SERPINF2, PSEN1, IL6
47tyrosine447.0AGRN, RPS27A, SYP, IL6, LOX, GFAP
48lipid446.9SERPINF2, APP, LOX, GFAP, AGRN, PSEN1
49retinoic acid44 247.9RPS27A, SYP, GFAP, APP, LOX, PSEN1
50serine446.6GFAP, HSPB6, CTSD, CST3, RPS27A, AGRN

GO Terms for genes affiliated with Hereditary Cerebral Hemorrhage with Amyloidosis

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet