MCID: CRB103
MIFTS: 42

Cerebral Cavernous Malformations-1 malady

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

Aliases & Classifications for Cerebral Cavernous Malformations-1

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Sources:
45OMIM, 22GTR, 43Novoseek, 10diseasecard, 41NIH Rare Diseases, 21Genetics Home Reference, 47Orphanet, 60UMLS, 42NINDS, 26ICD10 via Orphanet
See all sources

Cerebral Cavernous Malformations-1, Aliases & Descriptions:

Name: Cerebral Cavernous Malformations-1 45 22
Familial Cerebral Cavernous Malformation 41 21 47 60
Cerebral Cavernous Malformation 41 21 42 22
Hereditary Cerebral Cavernous Malformation 41 47
Cavernous Malformations of Cns and Retina 45 10
Hereditary Brain Cavernous Hemangioma 41 47
Familial Brain Cavernous Hemangioma 41 47
Hereditary Brain Cavernous Angioma 41 47
Cerebral Cavernous Malformations 45 43
Familial Brain Cavernous Angioma 41 47
Cerebral Cavernous Hemangioma 41 21
Hereditary Cerebral Cavernoma 41 47
 
Familial Cerebral Cavernoma 41 47
Cavernous Angioma 41 42
Ccm 41 21
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations 45
Central Nervous System Cavernous Hemangioma 21
Familial Cerebral Cavernous Angioma 21
Intracerebral Cavernous Hemangioma 21
Familial Cavernous Malformation 21
Familial Cavernous Hemangioma 21
Hemangioma, Cavernous 60
Angioma, Cavernous 60
Cavernoma 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
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:

OMIM45 116860
Orphanet47 221061
ICD10 via Orphanet26 Q28.3

Summaries for Cerebral Cavernous Malformations-1

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OMIM:45 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:41 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:42 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:21 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).

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 Suite gene sharing:

(show top 50)    (show all 94)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral cavernous malformation, familial30.3CCM2, PDCD10, KRIT1
2vascular disease29.5CCM2, PDCD10, KRIT1
3klippel-trenaunay-weber syndrome29.4CCM2, PDCD10, KRIT1
4cavernous malformation11.3
5cerebritis11.3
6cerebral cavernous malformations 310.8
7endotheliitis10.6
8cerebral cavernous malformations-210.4
9hemangioma10.4
10cavernous hemangioma10.4
11familial cerebral cavernous malformation 110.4
12familial cerebral cavernous malformation 210.4
13familial cerebral cavernous malformation 310.4
14familial cerebral cavernous malformation 410.4
15dermal unilateral segmental cavernous angioma10.4
16factor vii deficiency10.3
17siderosis10.3
18focal dystonia10.3
19superficial siderosis10.3
20cerebro-costo-mandibular syndrome10.2
21venous malformations, multiple cutaneous and mucosal10.1
22neuronitis10.1
23arteriovenous malformation10.1
24brain edema10.1
25angiokeratoma10.1
26astrocytoma10.1
27oligodendroglioma10.1
28retinitis10.1
29anaplastic oligodendroglioma10.1
30angiomatosis10.1
31congenital vascular cavernous malformations10.1
32familial hemangioma10.1
33nevus cavernosus10.1
34vascular erectile tumor10.1
35retinal cavernous hemangioma10.1
36medulloblastoma10.1
37roberts syndrome10.1
38hydrocephalus10.1
39temporal lobe epilepsy10.1
40neuroectodermal tumor10.1
41liver angiosarcoma10.1
42segmental dystonia10.1
43olfactory groove meningioma10.1
44nodular malignant melanoma10.1
45chiasmal syndrome10.1
46trigeminal neuralgia10.1
47cavernous hemangioma of orbit10.1
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 Malformation22
2 Cerebral Cavernous Malformations 122

Anatomical Context for Cerebral Cavernous Malformations-1

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

31
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:

35
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:

62
id Symbol AA change Variation ID SNP ID
1KRIT1p.Phe97SerVAR_023573
2KRIT1p.Lys569GluVAR_023574

Clinvar genetic disease variations for Cerebral Cavernous Malformations-1:

6 (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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1angiogenesisGO:00015259.0KRIT1, PDCD10

Products for genes affiliated with Cerebral Cavernous Malformations-1

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  • Antibodies
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  • Kits and Assays

Sources for Cerebral Cavernous Malformations-1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet