MCID: CRB103
MIFTS: 48

Cerebral Cavernous Malformations-1 malady

Genetic diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Fetal diseases, Eye diseases categories

Summaries for Cerebral Cavernous Malformations-1

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OMIM:47 Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the central nervous... (116860) more...

MalaCards based summary: Cerebral Cavernous Malformations-1, also known as familial cerebral cavernous malformation, is related to cerebral cavernous malformation, familial and vascular disease, and has symptoms including autosomal dominant inheritance, abnormality of the skin and seizures. An important gene associated with Cerebral Cavernous Malformations-1 is KRIT1 (KRIT1, ankyrin repeat containing). Affiliated tissues include brain, spinal cord and retina, and related mouse phenotypes are craniofacial and vision/eye.

NIH Rare Diseases:43 Cerebral cavernous malformations (ccms) are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure which lead to altered blood flow. cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the central nervous system (the brain and spinal cord). cavernous malformations in the brain and/or spinal cord are called cerebral cavernous malformations.  approximately 25 percent of individuals with cerebral cavernous malformations never experience any related medical problems. other people with cerebral cavernous malformations may experience serious symptoms such as headaches, seizures, paralysis, hearing or vision deficiencies, and bleeding in the brain (cerebral hemorrhage). these malformations can change in size and number over time, but they do not become cancerous.  this condition can be sporadic or it can be inherited in an autosomal dominant pattern. mutations in the krit1(ccm1), ccm2, and pdcd10 (ccm3) genes cause cerebral cavernous malformation. last updated: 6/10/2011

NINDS:44 A cerebral cavernous malformation (CCM) is a collection of small blood vessels (capillaries) in the central nervous system (CNS) that is enlarged and irregular in structure.

Genetics Home Reference:23 Cerebral cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls, and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a result, the blood vessels are prone to leakage, which can cause the health problems related to this condition. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the brain and spinal cord (which are described as cerebral).

Aliases & Classifications for Cerebral Cavernous Malformations-1

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Sources:
47OMIM, 24GTR, 45Novoseek, 11diseasecard, 43NIH Rare Diseases, 23Genetics Home Reference, 49Orphanet, 62UMLS, 44NINDS, 28ICD10 via Orphanet
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Cerebral Cavernous Malformations-1, Aliases & Descriptions:

Name: Cerebral Cavernous Malformations-1 47 24
Familial Cerebral Cavernous Malformation 43 23 49 62
Cerebral Cavernous Malformation 43 23 44 24
Hereditary Cerebral Cavernous Malformation 43 49
Cavernous Malformations of Cns and Retina 47 11
Hereditary Brain Cavernous Hemangioma 43 49
Familial Brain Cavernous Hemangioma 43 49
Hereditary Brain Cavernous Angioma 43 49
Familial Brain Cavernous Angioma 43 49
Cerebral Cavernous Malformations 47 45
Hereditary Cerebral Cavernoma 43 49
 
Cerebral Cavernous Hemangioma 43 23
Familial Cerebral Cavernoma 43 49
Cavernous Angioma 43 44
Ccm 43 23
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations 47
Central Nervous System Cavernous Hemangioma 23
Familial Cerebral Cavernous Angioma 23
Intracerebral Cavernous Hemangioma 23
Familial Cavernous Malformation 23
Familial Cavernous Hemangioma 23
Cavernoma 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
familial cerebral cavernous malformation:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy


External Ids:

OMIM47 116860
Orphanet49 221061
ICD10 via Orphanet28 Q28.3

Related Diseases for Cerebral Cavernous Malformations-1

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Diseases in the Cerebral Cavernous Malformations-2 family:

Cerebral Cavernous Malformations 3 cerebral cavernous malformations-1
Cerebral Cavernous Malformation, Familial Familial Cerebral Cavernous Malformation 1
Familial Cerebral Cavernous Malformation 2 Familial Cerebral Cavernous Malformation 3
Familial Cerebral Cavernous Malformation 4

Diseases related to Cerebral Cavernous Malformations-1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 94)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral cavernous malformation, familial30.7KRIT1, PDCD10, CCM2
2vascular disease30.1KRIT1, PDCD10, CCM2
3klippel-trenaunay-weber syndrome30.1KRIT1, PDCD10, CCM2
4cavernous malformation11.3
5cerebritis11.3
6cerebral cavernous malformations 310.8
7endotheliitis10.6
8cerebral cavernous malformations-210.4
9hemangioma10.4
10cavernous hemangioma10.4
11cerebro-costo-mandibular syndrome10.3
12familial cerebral cavernous malformation 110.3
13familial cerebral cavernous malformation 210.3
14familial cerebral cavernous malformation 310.3
15familial cerebral cavernous malformation 410.3
16factor vii deficiency10.3
17siderosis10.3
18dermal unilateral segmental cavernous angioma10.3
19cavernous hemangioma of orbit10.3
20focal dystonia10.3
21superficial siderosis10.3
22venous malformations, multiple cutaneous and mucosal10.1
23neuronitis10.1
24arteriovenous malformation10.1
25brain edema10.1
26angiokeratoma10.1
27astrocytoma10.1
28oligodendroglioma10.1
29retinitis10.1
30anaplastic oligodendroglioma10.1
31angiomatosis10.1
32congenital vascular cavernous malformations10.1
33familial hemangioma10.1
34nevus cavernosus10.1
35vascular erectile tumor10.1
36retinal cavernous hemangioma10.1
37medulloblastoma10.1
38roberts syndrome10.1
39hydrocephalus10.1
40temporal lobe epilepsy10.1
41neuroectodermal tumor10.1
42liver angiosarcoma10.1
43segmental dystonia10.1
44olfactory groove meningioma10.1
45nodular malignant melanoma10.1
46chiasmal syndrome10.1
47trigeminal neuralgia10.1
48angiosarcoma10.1
49melanoma10.1
50pineoblastoma10.1

Graphical network of the top 20 diseases related to Cerebral Cavernous Malformations-1:



Diseases related to cerebral cavernous malformations-1

Symptoms for Cerebral Cavernous Malformations-1

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Symptoms by clinical synopsis from OMIM:

116860

Clinical features from OMIM:

116860

HPO human phenotypes related to Cerebral Cavernous Malformations-1:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 abnormality of the skin HP:0000951
3 seizures HP:0001250
4 heterogeneous HP:0001425
5 intracranial hemorrhage HP:0002170
6 headache HP:0002315
7 cerebral calcification HP:0002514
8 abnormality of the musculature HP:0003011
9 incomplete penetrance HP:0003829
10 hepatic vascular malformations HP:0006576
11 retinal vascular malformation HP:0007797

Drugs & Therapeutics for Cerebral Cavernous Malformations-1

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Drug clinical trials:

Search ClinicalTrials for Cerebral Cavernous Malformations-1

Search NIH Clinical Center for Cerebral Cavernous Malformations-1

Genetic Tests for Cerebral Cavernous Malformations-1

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Genetic tests related to Cerebral Cavernous Malformations-1:

id Genetic test Affiliating Genes
1 Cerebral Cavernous Malformation24
2 Cerebral Cavernous Malformations 124

Anatomical Context for Cerebral Cavernous Malformations-1

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MalaCards organs/tissues related to Cerebral Cavernous Malformations-1:

33
Brain, Spinal cord, Retina, Endothelial, Skin

Animal Models for Cerebral Cavernous Malformations-1 or affiliated genes

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MGI Mouse Phenotypes related to Cerebral Cavernous Malformations-1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.6KRIT1, PDCD10, CCM2
2MP:00053918.6CCM2, PDCD10, KRIT1
3MP:00053808.5KRIT1, PDCD10, CCM2
4MP:00107688.5KRIT1, PDCD10, CCM2
5MP:00053858.4CCM2, PDCD10, KRIT1
6MP:00036318.2KRIT1, PDCD10, CCM2

Publications for Cerebral Cavernous Malformations-1

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Variations for Cerebral Cavernous Malformations-1

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UniProtKB/Swiss-Prot genetic disease variations for Cerebral Cavernous Malformations-1:

64
id Symbol AA change Variation ID SNP ID
1KRIT1p.Phe97SerVAR_023573
2KRIT1p.Lys569GluVAR_023574

Clinvar genetic disease variations for Cerebral Cavernous Malformations-1:

7 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1PDCD10PDCD10, 586C-Tsingle nucleotide variantPathogenic
2PDCD10PDCD10, 385C-Tsingle nucleotide variantPathogenic
3PDCD10PDCD10, 103C-Tsingle nucleotide variantPathogenic
4PDCD10PDCD10, 54-BP DELdeletionPathogenic
5PDCD10PDCD10, 4-BP DELdeletionPathogenic
6PDCD10PDCD10, IVS8AS, G-A, -1single nucleotide variantPathogenic
7PDCD10PDCD10, DELdeletionPathogenic
8CCM2CCM2, 1-BP DEL, 23GdeletionPathogenic
9CCM2NM_001029835.2(CCM2): c.382C> T (p.Gln128Ter)single nucleotide variantPathogenicrs137852841GRCh37Chr 7, 45104092: 45104092
10CCM2CCM2, IVS5, G-A, -1single nucleotide variantPathogenic
11CCM2CCM2, 4-BP DEL, NT169deletionPathogenic
12CCM2NM_031443.3(CCM2): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs137852842GRCh37Chr 7, 45039933: 45039933
13CCM2CCM2, IVS3, G-A, +1single nucleotide variantPathogenic
14CCM2NM_001029835.2(CCM2): c.656T> G (p.Leu219Arg)single nucleotide variantPathogenicrs137852843GRCh37Chr 7, 45108162: 45108162
15CCM2CCM2, 2-BP DEL, 1248AGdeletionPathogenic
16CCM2nsv513784deletionPathogenic
17CCM2CCM2, IVS1, GC-TT, +5undetermined variantPathogenic
18KRIT1NM_194456.1(KRIT1): c.1363C> T (p.Gln455Ter)single nucleotide variantPathogenicrs267607203GRCh37Chr 7, 91852184: 91852184
19KRIT1NM_194456.1(KRIT1): c.410A> G (p.Asp137Gly)single nucleotide variantPathogenicrs137853139GRCh37Chr 7, 91865802: 91865802
20KRIT1NM_194456.1(KRIT1): c.601C> G (p.Gln201Glu)single nucleotide variantPathogenicrs137853140GRCh37Chr 7, 91864845: 91864845
21KRIT1NM_194456.1(KRIT1): c.987C> A (p.Cys329Ter)single nucleotide variantPathogenicrs267607204GRCh37Chr 7, 91863765: 91863765

Expression for genes affiliated with Cerebral Cavernous Malformations-1

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Search GEO for disease gene expression data for Cerebral Cavernous Malformations-1.

Pathways for genes affiliated with Cerebral Cavernous Malformations-1

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Compounds for genes affiliated with Cerebral Cavernous Malformations-1

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GO Terms for genes affiliated with Cerebral Cavernous Malformations-1

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Biological processes related to Cerebral Cavernous Malformations-1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1angiogenesisGO:00015259.0KRIT1, PDCD10

Products for genes affiliated with Cerebral Cavernous Malformations-1

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Sources for Cerebral Cavernous Malformations-1

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet