MCID: CRB051
MIFTS: 16

Cerebral Cavernous Malformation, Familial

Categories: Genetic diseases, Cancer diseases, Neuronal diseases, Rare diseases, Eye diseases

Aliases & Classifications for Cerebral Cavernous Malformation, Familial

MalaCards integrated aliases for Cerebral Cavernous Malformation, Familial:

Name: Cerebral Cavernous Malformation, Familial 23
Familial Cerebral Cavernous Malformation 23 24 69
Familial Cerebral Cavernous Angioma 23 24
Familial Cavernous Hemangioma 23 24

Characteristics:

GeneReviews:

23
Penetrance Krit1. among 64 families with 202 individuals who were heterozygous for a krit1 pathogenic variant [denier et al 2004b]:...

Classifications:



Summaries for Cerebral Cavernous Malformation, Familial

MalaCards based summary : Cerebral Cavernous Malformation, Familial, also known as familial cerebral cavernous malformation, is related to familial cerebral cavernous malformation 1 and familial cerebral cavernous malformation 2. An important gene associated with Cerebral Cavernous Malformation, Familial is PDCD10 (Programmed Cell Death 10). The drugs Anticholesteremic Agents and Antimetabolites have been mentioned in the context of this disorder.

GeneReviews: NBK1293

Related Diseases for Cerebral Cavernous Malformation, Familial

Graphical network of the top 20 diseases related to Cerebral Cavernous Malformation, Familial:



Diseases related to Cerebral Cavernous Malformation, Familial

Symptoms & Phenotypes for Cerebral Cavernous Malformation, Familial

Drugs & Therapeutics for Cerebral Cavernous Malformation, Familial

Drugs for Cerebral Cavernous Malformation, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anticholesteremic Agents Phase 1, Phase 2,Early Phase 1
2 Antimetabolites Phase 1, Phase 2,Early Phase 1
3 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2,Early Phase 1
4 Hypolipidemic Agents Phase 1, Phase 2,Early Phase 1
5 Lipid Regulating Agents Phase 1, Phase 2,Early Phase 1
6 Atorvastatin Calcium Phase 1, Phase 2 134523-03-8
7 Calcium, Dietary Phase 1, Phase 2
8
Simvastatin Approved Early Phase 1 79902-63-9 54454
9 Neuroserpin
10 Astragalus Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Atorvastatin Treatment of Cavernous Angiomas With Symptomatic Hemorrhage Exploratory Proof of Concept (AT CASH EPOC) Trial Not yet recruiting NCT02603328 Phase 1, Phase 2 Atorvastatin
2 Genetic Disease Gene Identification Unknown status NCT00916903
3 Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of Statins Completed NCT01764451 Early Phase 1 Simvastatin
4 Modifiers of Disease Severity in Cerebral Cavernous Malformations Recruiting NCT01764529
5 CoHOrt of Cerebral CavernOus maLformATion: multicEnter Prospective Observational Study Recruiting NCT02946866

Search NIH Clinical Center for Cerebral Cavernous Malformation, Familial

Genetic Tests for Cerebral Cavernous Malformation, Familial

Genetic tests related to Cerebral Cavernous Malformation, Familial:

id Genetic test Affiliating Genes
1 Familial Cerebral Cavernous Malformation 24 PDCD10

Anatomical Context for Cerebral Cavernous Malformation, Familial

Publications for Cerebral Cavernous Malformation, Familial

Articles related to Cerebral Cavernous Malformation, Familial:

id Title Authors Year
1
Cerebral Cavernous Malformation, Familial ( 20301470 )
1993

Variations for Cerebral Cavernous Malformation, Familial

Expression for Cerebral Cavernous Malformation, Familial

Search GEO for disease gene expression data for Cerebral Cavernous Malformation, Familial.

Pathways for Cerebral Cavernous Malformation, Familial

GO Terms for Cerebral Cavernous Malformation, Familial

Sources for Cerebral Cavernous Malformation, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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