MCID: HRD042
MIFTS: 32

Hereditary Cerebral Hemorrhage with Amyloidosis malady

Summaries for Hereditary Cerebral Hemorrhage with Amyloidosis

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42NIH Rare Diseases, 32MalaCards
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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: 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 A-beta Plaque Formation & APP Metabolism and Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways. The compounds cycloheximide and estrogen have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are behavior/neurological and muscle.

Aliases & Classifications for Hereditary Cerebral Hemorrhage with Amyloidosis

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42NIH Rare Diseases
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Aliases & Descriptions:

hereditary cerebral hemorrhage with amyloidosis 42
hereditary cerebral hemorrhage with amyloidosis, icelandic type 42
hereditary cerebral hemorrhage with amyloidosis, dutch type 42


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 103)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.7CTSD, PSEN1, APP, CST3, RPS27A
2cerebral amyloid angiopathy31.0HSPB6, PSEN1, APP, CST3
3alzheimer's disease30.9CST3, HSPB6, HSPB8, RPS27A, LOX, APP
4dementia30.6RPS27A, CST3, APP, PSEN1, SYP, GFAP
5cerebrovascular disease30.4APP, CST3
6pancreatitis30.4IL6
7vascular disease30.4PSEN1, CST3, LOX
8cerebritis11.2
9hemorrhagic disease10.8
10cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants10.7
11brain disease10.4
12cerebral degeneration10.3
13hypertension10.0CST3
14neuropathy10.0HSPB8
15scrapie10.0CST3
16neuroblastoma10.0SYP
17medulloepithelioma10.0SYP
18rhabdoid tumor10.0SYP
19melanotic neuroectodermal tumor10.0SYP
20brain ischemia10.0APP
21hyperhomocysteinemia10.0CST3
22pituitary adenoma10.0SYP
23parkinson's disease10.0RPS27A
24gingivitis10.0CST3
25charcot-marie-tooth neuropathy type 210.0HSPB8
26dilated cardiomyopathy10.0CTSD
27wilson disease10.0LOX
28cataract10.0RPS27A
29myocardial infarction10.0CST3, SERPINF2
30retinal detachment10.0GFAP
31lung cancer10.0APP, SYP
32dysembryoplastic neuroepithelial tumor10.0SYP
33giant cell glioblastoma10.0GFAP
34proliferative diabetic retinopathy10.0GFAP
35alexander disease10.0GFAP
36neuroaxonal dystrophy, infantile10.0RPS27A, APP
37melanoma10.0CST3, LOX
38herpes simplex10.0CTSD, RPS27A
39arthritis10.0IL6
40meningitis10.0IL6
41tetanus10.0CST3, APP
42down syndrome10.0PSEN1, APP
43motor neuron disease10.0HSPB8, RPS27A
44inclusion body myositis10.0APP, RPS27A
45alzheimer disease type 110.0APP, PSEN1
46skin disease10.0IL6
47schizophrenia10.0SYP, PSEN1
48hepatocellular carcinoma10.0IL6
49myoepithelioma10.0GFAP
50spinal muscular atrophy 110.0SYP, RPS27A

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



Diseases related to hereditary cerebral hemorrhage with amyloidosis

Clinical Features for Hereditary Cerebral Hemorrhage with Amyloidosis

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Drugs & Therapeutics for Hereditary Cerebral Hemorrhage with Amyloidosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Hereditary Cerebral Hemorrhage with Amyloidosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053866.9IL6, AGRN, CTSD, PSEN1, APP, LOX
2MP:00053696.7LOX, GFAP, IL6, AGRN, PSEN1, APP
3MP:00036316.5GFAP, IL6, AGRN, SYP, CTSD, PSEN1
4MP:00053766.3IL6, CTSD, PSEN1, APP, CST3, HSPB8

Publications for Hereditary Cerebral Hemorrhage with Amyloidosis

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Genetic 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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1BioGPS, 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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52R&D Systems, 53Reactome, 29KEGG, 4Cell Signaling Technology
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Compounds for genes affiliated with Hereditary Cerebral Hemorrhage with Amyloidosis

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44Novoseek, 2BitterDB, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience
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Compounds related to Hereditary Cerebral Hemorrhage with Amyloidosis according to GeneCards/GeneDecks:

(show top 50)    (show all 83)
idCompoundScoreTop Affiliating Genes
1cycloheximide4410.4PSEN1
2estrogen4410.0GFAP
3leupeptin449.7CTSD, CST3, APP
4thioflavine s449.6APP, RPS27A
5nh4cl449.5APP, GFAP, CTSD
6chloroquine44 2 49 28 1113.4RPS27A, SYP, CTSD, APP
7formate449.4GFAP, APP, RPS27A
8gold449.3SYP, CTSD, CST3, LOX
9matrigel449.2AGRN, LOX
10carbon449.1SYP, APP, LOX, RPS27A
11streptozotocin449.1SYP, GFAP, RPS27A
12choline44 11 2411.0PSEN1, GFAP, APP, SYP
136-hydroxydopamine448.8GFAP, CTSD, APP, CST3, RPS27A
14silver448.8GFAP, SYP, CTSD, CST3, RPS27A
15formaldehyde44 249.8APP, GFAP, SYP, CTSD, RPS27A
16serine448.7APP, GFAP, PSEN1, SYP, AGRN
17valine448.7RPS27A, LOX, PSEN1, APP, CTSD
18acetylcholine44 49 28 11 2412.7AGRN, RPS27A, APP, GFAP, SYP
19glycogen44 249.6HSPB8, RPS27A, GFAP, PSEN1, SYP
20epinephrine44 11 2410.6APP, SERPINF2, IL6, RPS27A
21curcumin448.6LOX, RPS27A, APP, IL6
22gaba448.6APP, LOX, RPS27A, GFAP, SYP
23dexamethasone44 49 28 1111.6IL6, APP, LOX, GFAP
24lysine448.6RPS27A, LOX, PSEN1, CTSD, SERPINF2
25nmda44 289.6GFAP, PSEN1, RPS27A, SYP, APP
26butyrate448.6GFAP, CTSD, APP, LOX, RPS27A
27cyclosporin a44 28 5910.5APP, CST3, RPS27A, CTSD, IL6
28paraffin448.5SYP, CTSD, RPS27A, LOX, GFAP
29leucine448.5CST3, GFAP, SYP, CTSD, PSEN1
30superoxide44 249.4LOX, CST3, PSEN1, SYP, GFAP
31arginine448.3GFAP, CST3, APP, RPS27A, PSEN1, SERPINF2
32h2o2448.3SYP, LOX, CTSD, APP, PSEN1, RPS27A
33aspartate448.3CST3, APP, CTSD, GFAP, RPS27A, PSEN1
34cisplatin44 49 59 1111.3GFAP, CTSD, RPS27A, LOX, CST3, SYP
35adenylate448.2RPS27A, LOX, GFAP, APP, CTSD
36glutamate448.1APP, GFAP, RPS27A, PSEN1, CTSD, SYP
37glucose448.1AGRN, LOX, CTSD, CST3, GFAP, PSEN1
38nitric oxide44 11 2410.1IL6, HSPB6, PSEN1, CTSD, SYP, AGRN
39oxygen44 249.1PSEN1, SERPINF2, HSPB6, CTSD, GFAP, LOX
40lactate447.8LOX, RPS27A, GFAP, IL6, CTSD, CST3
41glutamine447.7RPS27A, CST3, APP, PSEN1, CTSD, SYP
42testosterone44 59 11 2410.7IL6, RPS27A, APP, SERPINF2, GFAP, SYP
43creatinine447.7IL6, GFAP, SYP, CTSD, APP, CST3
44calcium44 49 11 2410.6SERPINF2, GFAP, AGRN, CTSD, CST3, HSPB6
45cysteine447.4CTSD, GFAP, SYP, PSEN1, APP, CST3
46cholesterol44 28 11 2410.3SYP, APP, CTSD, IL6, GFAP, PSEN1
47alanine447.2CST3, APP, PSEN1, SERPINF2, RPS27A, CTSD
48retinoic acid44 247.9GFAP, LOX, RPS27A, APP, PSEN1, CTSD
49vegf446.9SERPINF2, GFAP, IL6, SYP, APP, CST3
50lipid446.8LOX, GFAP, IL6, CST3, PSEN1, APP

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
2extracellular spaceGO:0056158.2SERPINF2, IL6, CTSD, CST3, LOX
3extracellular regionGO:0055767.4SERPINF2, IL6, AGRN, CTSD, APP, CST3

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1smooth endoplasmic reticulum calcium ion homeostasisGO:0515639.7PSEN1, APP
2autophagic vacuole assemblyGO:0000459.6CTSD, PSEN1
3regulation of protein bindingGO:0433939.5APP, PSEN1
4Notch receptor processingGO:0072209.2RPS27A, PSEN1
5Notch signaling pathwayGO:0072199.2PSEN1, APP, RPS27A
6extracellular matrix organizationGO:0301988.4GFAP, AGRN, CTSD, APP, LOX
7positive regulation of transcription from RNA polymerase II promoterGO:0459448.3RPS27A, APP, AGRN, IL6, SERPINF2

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

idNameGO IDScoreTop Affiliating Genes
1aspartic-type endopeptidase activityGO:0041909.6CTSD, PSEN1

Products for genes affiliated with Hereditary Cerebral Hemorrhage with Amyloidosis

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