MCID: CRB051
MIFTS: 29

Cerebral Cavernous Malformation, Familial

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

Aliases & Classifications for Cerebral Cavernous Malformation, Familial

MalaCards integrated aliases for Cerebral Cavernous Malformation, Familial:

Name: Cerebral Cavernous Malformation, Familial 24
Familial Cerebral Cavernous Malformation 24 73
Familial Cerebral Cavernous Angioma 24
Familial Cavernous Hemangioma 24

Characteristics:

GeneReviews:

24
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. The drugs Hydroxymethylglutaryl-CoA Reductase Inhibitors and Hypolipidemic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, spinal cord and endothelial, and related phenotypes are seizures and cerebral hemorrhage

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 11.7
2 cavernous malformation 10.1
3 cerebritis 9.8

Symptoms & Phenotypes for Cerebral Cavernous Malformation, Familial

Human phenotypes related to Cerebral Cavernous Malformation, Familial:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 seizures 32 hallmark (90%) HP:0001250
2 cerebral hemorrhage 32 hallmark (90%) HP:0001342
3 headache 32 hallmark (90%) HP:0002315
4 increased intracranial pressure 32 frequent (33%) HP:0002516
5 episodic vomiting 32 occasional (7.5%) HP:0002572
6 scoliosis 32 frequent (33%) HP:0002650
7 meningioma 32 frequent (33%) HP:0002858
8 choroidal hemangioma 32 occasional (7.5%) HP:0007872
9 vascular skin abnormality 32 occasional (7.5%) HP:0011276
10 retinal cavernous angioma 32 occasional (7.5%) HP:0011513
11 venous malformation 32 occasional (7.5%) HP:0012721
12 focal t2 hyperintense brainstem lesion 32 frequent (33%) HP:0012748
13 focal t2 hypointense brainstem lesion 32 frequent (33%) HP:0012749
14 neuroma 32 frequent (33%) HP:0030430
15 cognitive impairment 32 occasional (7.5%) HP:0100543
16 spinal cord lesion 32 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 Hypolipidemic Agents Phase 1, Phase 2,Early Phase 1
3 Anticholesteremic Agents Phase 1, Phase 2,Early Phase 1
4 Lipid Regulating Agents Phase 1, Phase 2,Early Phase 1
5 Antimetabolites 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:

41
Skin, Spinal Cord, Endothelial, Brain

Publications for Cerebral Cavernous Malformation, Familial

Articles related to Cerebral Cavernous Malformation, Familial:

(show all 32)
# Title Authors Year
1
Management of brothers with haemophilia A and familial cerebral cavernous malformations. ( 29418046 )
2018
2
First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing. ( 29197946 )
2018
3
Connexin 43 gap junctions contribute to brain endothelial barrier hyperpermeability in familial cerebral cavernous malformations type III by modulating tight junction structure. ( 29295866 )
2018
4
A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation. ( 29169046 )
2018
5
Genetically diagnosed Birt-Hogg-DubAc syndrome and familial cerebral cavernous malformations in the same individual: a case report. ( 27722904 )
2017
6
Familial Cerebral Cavernous Malformations Are Associated with Adrenal Calcifications on CT Scans: An Imaging Biomarker for a Hereditary Cerebrovascular Condition. ( 28318403 )
2017
7
A Novel CCM1/KRIT1 Heterozygous Nonsense Mutation (c.1864C>T) Associated with Familial Cerebral Cavernous Malformation: a Genetic Insight from an 8-Year Continuous Observational Study. ( 28255959 )
2017
8
Automated algorithm for counting microbleeds in patients with familial cerebral cavernous malformations. ( 28534135 )
2017
9
Familial cerebral cavernous malformation: Report of a novel KRIT1 mutation in a Portuguese family. ( 29145060 )
2017
10
Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population. ( 27649701 )
2016
11
Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene. ( 27462358 )
2016
12
Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations. ( 26115622 )
2015
13
Sensitivity of patients with familial cerebral cavernous malformations to therapeutic radiation. ( 25565562 )
2015
14
A Japanese pedigree of familial cerebral cavernous malformations--a case report. ( 25707093 )
2014
15
Discovery of familial cerebral cavernous malformation in a Saudi population. ( 24265337 )
2013
16
The value of T(2) (*)-weighted gradient echo imaging for detection of familial cerebral cavernous malformation: A study of two families. ( 23408355 )
2013
17
The importance of susceptibility-weighted imaging in familial cerebral cavernous malformation. ( 22825481 )
2012
18
Familial cerebral cavernous malformation. ( 22773461 )
2012
19
Familial cerebral cavernous malformation: report of a further Italian family. ( 19184323 )
2009
20
Frequency and phenotypes of cutaneous vascular malformations in a consecutive series of 417 patients with familial cerebral cavernous malformations. ( 19453802 )
2009
21
Vertebral and spinal cavernous angiomas associated with familial cerebral cavernous malformation. ( 18207546 )
2009
22
Familial cerebral cavernous malformation: features of clinical manifestation, pathology and imaging in a Chinese family. ( 18628620 )
2008
23
Susceptibility-weighted imaging for the evaluation of patients with familial cerebral cavernous malformations: a comparison with t2-weighted fast spin-echo and gradient-echo sequences. ( 17947370 )
2008
24
Spinal root arteriovenous malformations and same-segment cord cavernous malformation in familial cerebral cavernous malformation. Case report. ( 18928219 )
2008
25
Familial cerebral cavernous malformations: Rio de Janeiro study and review of the recommendations for management. ( 19099113 )
2008
26
T2*-weighted MR images of a patient with familial cerebral cavernous malformation. ( 17443056 )
2007
27
Bleeding of a familial cerebral cavernous malformation after prophylactic anticoagulation therapy. Case report. ( 16859253 )
2006
28
Value of gradient-echo magnetic resonance imaging in the diagnosis of familial cerebral cavernous malformation. ( 15824268 )
2005
29
Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation. ( 12774951 )
2003
30
Vertebral hemangiomas associated with familial cerebral cavernous malformation: segmental disease expression. Case report. ( 12296684 )
2002
31
Mutations in KRIT1 in familial cerebral cavernous malformations. ( 10807272 )
2000
32
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
17 ExPASy
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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