MCID: HRD042
MIFTS: 29

Hereditary Cerebral Hemorrhage with Amyloidosis malady

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 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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43NIH Rare Diseases
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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 105)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.7CTSD, PSEN1, APP, CST3, RPS27A
2cerebral amyloid angiopathy31.0HSPB6, CST3, APP, PSEN1
3alzheimer's disease30.8RPS27A, HSPB8, HSPB6, PSEN1, CTSD, CST3
4vascular disease30.4PSEN1, CST3, LOX
5amyloidosis cerebral11.2
6hereditary amyloidosis11.2
7al amyloidosis10.9
8cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants10.7
9hereditary cerebral amyloid angiopathy10.6
10brain disease10.4
11amyloidosis, secondary10.3
12hypertension10.0CST3
13neuropathy10.0HSPB8
14scrapie10.0CST3
15neuroblastoma10.0SYP
16medulloepithelioma10.0SYP
17rhabdoid tumor10.0SYP
18melanotic neuroectodermal tumor10.0SYP
19brain ischemia10.0APP
20hyperhomocysteinemia10.0CST3
21pituitary adenoma10.0SYP
22parkinson's disease10.0RPS27A
23gingivitis10.0CST3
24charcot-marie-tooth neuropathy type 210.0HSPB8
25dilated cardiomyopathy10.0CTSD
26wilson disease10.0LOX
27cataract10.0RPS27A
28myocardial infarction10.0SERPINF2, CST3
29dysembryoplastic neuroepithelial tumor10.0SYP
30retinal detachment10.0GFAP
31lung cancer10.0SYP, APP
32giant cell glioblastoma10.0GFAP
33proliferative diabetic retinopathy10.0GFAP
34alexander disease10.0GFAP
35cerebrovascular disease10.0CST3, APP
36neuroaxonal dystrophy, infantile10.0APP, RPS27A
37melanoma10.0LOX, CST3
38herpes simplex10.0CTSD, RPS27A
39arthritis10.0IL6
40meningitis10.0IL6
41tetanus10.0CST3, APP
42down syndrome10.0PSEN1, APP
43motor neuron disease10.0HSPB8, RPS27A
44inclusion body myositis10.0RPS27A, APP
45alzheimer disease type 110.0APP, PSEN1
46skin disease10.0IL6
47pancreatitis10.0IL6
48schizophrenia10.0PSEN1, SYP
49hepatocellular carcinoma10.0IL6
50spinal muscular atrophy 110.0RPS27A, SYP

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

Drugs & Therapeutics for Hereditary Cerebral Hemorrhage with Amyloidosis

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hereditary Cerebral Hemorrhage with Amyloidosis

Drug clinical trials:

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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

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

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Hereditary Cerebral Hemorrhage with Amyloidosis:

37
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

Genetic Variations for Hereditary Cerebral Hemorrhage with Amyloidosis

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

Sources:
53R&D Systems, 54Reactome, 30KEGG, 4Cell Signaling Technology
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Compounds for genes affiliated with Hereditary Cerebral Hemorrhage with Amyloidosis

Sources:
45Novoseek, 2BitterDB, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris 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
1cycloheximide4510.4PSEN1
2estrogen4510.0GFAP
3leupeptin459.7CTSD, CST3, APP
4thioflavine s459.6APP, RPS27A
5nh4cl459.5APP, GFAP, CTSD
6chloroquine45 2 50 29 1113.4RPS27A, SYP, CTSD, APP
7formate459.4GFAP, APP, RPS27A
8gold459.3SYP, CTSD, CST3, LOX
9matrigel459.2AGRN, LOX
10carbon459.1SYP, APP, LOX, RPS27A
11streptozotocin459.1SYP, GFAP, RPS27A
12choline45 11 2411.0PSEN1, GFAP, APP, SYP
136-hydroxydopamine458.8GFAP, CTSD, APP, CST3, RPS27A
14silver458.8GFAP, SYP, CTSD, CST3, RPS27A
15formaldehyde45 249.8APP, GFAP, SYP, CTSD, RPS27A
16serine458.7APP, GFAP, PSEN1, SYP, AGRN
17valine458.7RPS27A, LOX, PSEN1, APP, CTSD
18acetylcholine45 50 29 11 2412.7AGRN, RPS27A, APP, GFAP, SYP
19glycogen45 249.6HSPB8, RPS27A, GFAP, PSEN1, SYP
20epinephrine45 11 2410.6APP, SERPINF2, IL6, RPS27A
21curcumin458.6LOX, RPS27A, APP, IL6
22gaba458.6APP, LOX, RPS27A, GFAP, SYP
23dexamethasone45 50 29 1111.6IL6, APP, LOX, GFAP
24lysine458.6RPS27A, LOX, PSEN1, CTSD, SERPINF2
25nmda45 299.6GFAP, PSEN1, RPS27A, SYP, APP
26butyrate458.6GFAP, CTSD, APP, LOX, RPS27A
27cyclosporin a45 29 6010.5APP, CST3, RPS27A, CTSD, IL6
28paraffin458.5SYP, CTSD, RPS27A, LOX, GFAP
29leucine458.5CST3, GFAP, SYP, CTSD, PSEN1
30superoxide45 249.4LOX, CST3, PSEN1, SYP, GFAP
31arginine458.3GFAP, CST3, APP, RPS27A, PSEN1, SERPINF2
32h2o2458.3SYP, LOX, CTSD, APP, PSEN1, RPS27A
33aspartate458.3CST3, APP, CTSD, GFAP, RPS27A, PSEN1
34cisplatin45 50 60 1111.3GFAP, CTSD, RPS27A, LOX, CST3, SYP
35adenylate458.2RPS27A, LOX, GFAP, APP, CTSD
36glutamate458.1APP, GFAP, RPS27A, PSEN1, CTSD, SYP
37glucose458.1AGRN, LOX, CTSD, CST3, GFAP, PSEN1
38nitric oxide45 11 2410.1IL6, HSPB6, PSEN1, CTSD, SYP, AGRN
39oxygen45 249.1PSEN1, SERPINF2, HSPB6, CTSD, GFAP, LOX
40lactate457.8LOX, RPS27A, GFAP, IL6, CTSD, CST3
41glutamine457.7RPS27A, CST3, APP, PSEN1, CTSD, SYP
42testosterone45 60 11 2410.7IL6, RPS27A, APP, SERPINF2, GFAP, SYP
43creatinine457.7IL6, GFAP, SYP, CTSD, APP, CST3
44calcium45 50 11 2410.6SERPINF2, GFAP, AGRN, CTSD, CST3, HSPB6
45cysteine457.4CTSD, GFAP, SYP, PSEN1, APP, CST3
46cholesterol45 29 11 2410.3SYP, APP, CTSD, IL6, GFAP, PSEN1
47alanine457.2CST3, APP, PSEN1, SERPINF2, RPS27A, CTSD
48retinoic acid45 247.9GFAP, LOX, RPS27A, APP, PSEN1, CTSD
49vegf456.9SERPINF2, GFAP, IL6, SYP, APP, CST3
50lipid456.8LOX, GFAP, IL6, CST3, PSEN1, APP

GO Terms for genes affiliated with Hereditary Cerebral Hemorrhage with Amyloidosis

Sources:
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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  • Proteins
  • Lysates
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Sources for Hereditary Cerebral Hemorrhage with Amyloidosis

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet