MCID: CRB051
MIFTS: 20

Cerebral Cavernous Malformation, Familial

Categories: Neuronal diseases, Cancer diseases, Genetic diseases, Eye diseases, Rare 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 69
Familial Cerebral Cavernous Angioma 23
Familial Cavernous Hemangioma 23

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 cerebral cavernous malformations and cavernous malformation, and has symptoms including seizures, cerebral hemorrhage and headache. The drugs Hydroxymethylglutaryl-CoA Reductase Inhibitors and Anticholesteremic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin and spinal cord.

GeneReviews: NBK1293

Related Diseases for Cerebral Cavernous Malformation, Familial

Diseases in the Cerebral Cavernous Malformations family:

Cerebral Cavernous Malformations 2 Cerebral Cavernous Malformations 3
Cerebral Cavernous Malformation, Familial

Diseases related to Cerebral Cavernous Malformation, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cerebral cavernous malformations 11.5
2 cavernous malformation 10.1
3 cerebritis 9.8

Symptoms & Phenotypes for Cerebral Cavernous Malformation, Familial

Human phenotypes related to Cerebral Cavernous Malformation, Familial:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 seizures 31 hallmark (90%) HP:0001250
2 cerebral hemorrhage 31 hallmark (90%) HP:0001342
3 headache 31 hallmark (90%) HP:0002315
4 increased intracranial pressure 31 frequent (33%) HP:0002516
5 episodic vomiting 31 occasional (7.5%) HP:0002572
6 scoliosis 31 frequent (33%) HP:0002650
7 meningioma 31 frequent (33%) HP:0002858
8 choroidal hemangioma 31 occasional (7.5%) HP:0007872
9 vascular skin abnormality 31 occasional (7.5%) HP:0011276
10 retinal cavernous angioma 31 occasional (7.5%) HP:0011513
11 venous malformation 31 occasional (7.5%) HP:0012721
12 focal t2 hyperintense brainstem lesion 31 frequent (33%) HP:0012748
13 focal t2 hypointense brainstem lesion 31 frequent (33%) HP:0012749
14 neuroma 31 frequent (33%) HP:0030430
15 cognitive impairment 31 occasional (7.5%) HP:0100543
16 spinal cord lesion 31 occasional (7.5%) HP:0100561

Drugs & Therapeutics for Cerebral Cavernous Malformation, Familial

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2,Early Phase 1
2 Anticholesteremic Agents Phase 1, Phase 2,Early Phase 1
3 Hypolipidemic Agents Phase 1, Phase 2,Early Phase 1
4 Antimetabolites 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:


# Name Status NCT ID Phase Drugs
1 Effect of Oral Propranolol on mRNA Expresssion in Symptomatic Cavernous Malformation Recruiting NCT03474614 Phase 2 Propranolol
2 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
3 Genetic Disease Gene Identification Unknown status NCT00916903
4 Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of Statins Completed NCT01764451 Early Phase 1 Simvastatin
5 CoHOrt of Cerebral CavernOus maLformATion: multicEnter Prospective Observational Study Recruiting NCT02946866
6 Treatments and Outcomes of Untreated Cerebral Cavernous Malformations in CHina. Recruiting NCT03467295
7 Modifiers of Disease Severity in Cerebral Cavernous Malformations Recruiting NCT01764529

Search NIH Clinical Center for Cerebral Cavernous Malformation, Familial

Genetic Tests for Cerebral Cavernous Malformation, Familial

Anatomical Context for Cerebral Cavernous Malformation, Familial

MalaCards organs/tissues related to Cerebral Cavernous Malformation, Familial:

38
Skin, Spinal Cord

Publications for Cerebral Cavernous Malformation, Familial

Articles related to Cerebral Cavernous Malformation, Familial:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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