CCM1
MCID: CRB048
MIFTS: 57

Cerebral Cavernous Malformations (CCM1)

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

Aliases & Classifications for Cerebral Cavernous Malformations

MalaCards integrated aliases for Cerebral Cavernous Malformations:

Name: Cerebral Cavernous Malformations 57 76 55 40
Cerebral Cavernous Malformation 12 76 53 25 54 37 29 6 15
Cerebral Cavernous Malformations 1 75 29 6 73
Ccm 57 12 53 25
Cavernous Malformations of Cns and Retina 57 13 6
Cavernous Angiomatous Malformations 57 12 75
Cerebral Capillary Malformations 57 12 75
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations 57 6
Familial Cerebral Cavernous Malformation 25 73
Cerebral Cavernous Hemangioma 53 25
Familial Cavernous Angioma 12 75
Cavernous Angioma 53 54
Hemangioma, Cavernous, Central Nervous System 44
Central Nervous System Cavernous Hemangioma 25
Cavernous Angiomatous Malformations; Cam 57
Cerebral Cavernous Malformations, Type 1 40
Familial Cerebral Cavernous Angioma 25
Cerebral Cavernous Malformations-1 57
Intracerebral Cavernous Hemangioma 25
Cavernous Hemangioma of the Brain 75
Familial Cavernous Malformation 25
Familial Cavernous Hemangioma 25
Cavernous Angioma, Familial 57
Hemangioma, Cavernous 73
Cerebral Cavernoma 75
Angioma, Cavernous 73
Cavernoma 53
Ccm1 75
Cam 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
most common age of clinical onset ranges from 16 to 33 years
multiple lesions in familial cases
single lesions in sporadic cases
genetic heterogeneity (ccm2 )


HPO:

32
cerebral cavernous malformations:
Onset and clinical course incomplete penetrance
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Cerebral Cavernous Malformations

NIH Rare Diseases : 53 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. Treatment depends upon the symptoms. Seizures are usually treated with antiepileptic medications or surgery.

MalaCards based summary : Cerebral Cavernous Malformations, also known as cerebral cavernous malformation, is related to cerebral cavernous malformations 2 and cerebral cavernous malformations 3. An important gene associated with Cerebral Cavernous Malformations is KRIT1 (KRIT1, Ankyrin Repeat Containing), and among its related pathways/superpathways are AKT Signaling Pathway and Cell adhesion_Plasmin signaling. The drugs Anticholesteremic Agents and Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and endothelial, and related phenotypes are abnormality of the skin and seizures

Disease Ontology : 12 A vascular anomaly of the central nervous system characterized by dilated blood-filled capillaries lacking structural support.

Genetics Home Reference : 25 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).

OMIM : 57 Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the central nervous system. Cerebral cavernous angiomas are to be distinguished from cerebral arteriovenous malformations (106070, 108010). CCMs are venous and not demonstrable by arteriography; hence they are referred to as angiographically silent. Capillary hemangiomas (602089) are classified as distinct from vascular malformations in that hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. Hemangiomas develop shortly after birth. In contrast, vascular malformations are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover (Mulliken and Young, 1988). (116860)

NINDS : 54 Cerebral cavernous malformations (CCMs) are vascular lesions comprised of clusters of tightly packed, abnormally thin-walled small blood vessels (capillaries) that displace normal neurological tissue in the brain or spinal cord. The vessels are filled with slow-moving or stagnant blood that is usually clotted or in a state of decomposition. Cavernous malformations can occur in the brain, spinal cord, and some other body regions. In the brain and spinal cord these cavernous lesions are quite fragile and are prone to bleeding, causing hemorrhagic strokes (bleeding into the brain), seizures, and neurological deficits. CCMs can range in size from a few fractions of an inch to several inches in diameter, depending on the number of blood vessels involved. Some people develop multiple lesions while others never experience related medical problems. Hereditary forms of CCM are caused by mutations in one of three CCM disease genes: CCM1, CCM2, and CCM3. A large population with hereditary CCM disease is found in New Mexico and the Southwestern United States, in which the disease is caused by mutations in the gene CCM1 (or KRIT1).

UniProtKB/Swiss-Prot : 75 Cerebral cavernous malformations 1: A congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters.

Wikipedia : 76 Cavernous hemangioma, also called cavernous angioma, cavernoma, or cerebral cavernous malformation (CCM)... more...

Related Diseases for Cerebral Cavernous Malformations

Diseases in the Cerebral Cavernous Malformations family:

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

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 cerebral cavernous malformations 2 33.0 CCM2 CCM2L KRIT1 MAP3K3 PDCD10
2 cerebral cavernous malformations 3 33.0 CCM2 ITGB1BP1 KRIT1 MAP3K3 PDCD10
3 cavernous hemangioma 31.7 CCM2 KDR KRIT1 PDCD10
4 venous malformations, multiple cutaneous and mucosal 31.1 CCM2 KRIT1 PDCD10 PTEN
5 hemangioma 29.7 CCM2 KDR KRIT1
6 cavernous malformation 29.5 CCM2 CCM2L ITGB1BP1 KRIT1 MAP3K3 PDCD10
7 cerebral cavernous malformation, familial 12.4
8 intracranial cavernous angioma 12.2
9 dermal unilateral segmental cavernous angioma 12.1
10 cerebrocostomandibular syndrome 11.8
11 cataract 5, multiple types 11.7
12 cobb syndrome 11.3
13 congenital vascular cavernous malformations 11.1
14 familial hemangioma 11.1
15 vascular erectile tumor 11.1
16 cerebritis 11.0
17 hepatosplenic t-cell lymphoma 10.6
18 endotheliitis 10.4
19 human venous malformation 10.2 CCM2 KRIT1 PDCD10
20 epilepsy 10.2
21 encephalopathy, familial, with neuroserpin inclusion bodies 10.2 PDCD10 SERPINI1
22 vascular hemostatic disease 10.2 CCM2 KRIT1 PDCD10
23 klippel-trenaunay-weber syndrome 10.1 CCM2 KRIT1 PDCD10
24 cell type benign neoplasm 10.1 CCM2 KRIT1 PDCD10
25 neuronitis 9.9
26 bannayan-riley-ruvalcaba syndrome 9.9 CDKN3 PTEN
27 renal cell carcinoma, nonpapillary 9.8
28 wilson disease 9.8
29 aging 9.8
30 temporal lobe epilepsy 9.8
31 arteriovenous malformation 9.8
32 vascular disease 9.8
33 status epilepticus 9.8
34 astrocytoma 9.8
35 lipomatosis 9.8
36 oligodendroglioma 9.8
37 retinitis 9.8
38 brain edema 9.8
39 angiokeratoma 9.8
40 kidney disease 9.8
41 anaplastic oligodendroglioma 9.8
42 glioma 9.8
43 phace syndrome 9.8
44 angiomatosis 9.8
45 proteus syndrome 9.7 CDKN3 PTEN
46 arteriovenous malformations of the brain 9.6 KDR PDCD10
47 central nervous system hemangioma 8.6 CCM2 FAM222B ITGB1BP1 KRIT1 MAP3K3 PDCD10

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



Diseases related to Cerebral Cavernous Malformations

Symptoms & Phenotypes for Cerebral Cavernous Malformations

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
intracranial hemorrhage
headache
intracranial thin-walled sinusoidal vessel (cavernous) malformations
focal neurologic deficits
more
Abdomen Liver:
hepatic vascular malformations

Muscle Soft Tissue:
soft tissue vascular malformations

Head And Neck Eyes:
retinal vascular malformations

Skin Nails Hair Skin:
hyperkeratotic cutaneous vascular lesions


Clinical features from OMIM:

116860

Human phenotypes related to Cerebral Cavernous Malformations:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 abnormality of the skin 32 HP:0000951
2 seizures 32 HP:0001250
3 intracranial hemorrhage 32 HP:0002170
4 headache 32 HP:0002315
5 cerebral calcification 32 HP:0002514
6 abnormality of the musculature 32 HP:0003011
7 hepatic vascular malformations 32 HP:0006576
8 retinal vascular malformation 32 HP:0007797

MGI Mouse Phenotypes related to Cerebral Cavernous Malformations:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.87 KRIT1 MAP3K3 PDCD10 PTEN CCM2 CCM2L
2 embryo MP:0005380 9.73 CCM2 KDR KRIT1 MAP3K3 PDCD10 PTEN
3 muscle MP:0005369 9.7 CCM2 CCM2L KDR KRIT1 MAP3K3 PDCD10
4 normal MP:0002873 9.43 CCM2 CCM2L ITGB1BP1 KDR PDCD10 PTEN
5 vision/eye MP:0005391 9.1 CCM2 ITGB1BP1 KDR KRIT1 PDCD10 PTEN

Drugs & Therapeutics for Cerebral Cavernous Malformations

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

(show all 10)
# 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:


# 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 Malformations

Cochrane evidence based reviews: hemangioma, cavernous, central nervous system

Genetic Tests for Cerebral Cavernous Malformations

Genetic tests related to Cerebral Cavernous Malformations:

# Genetic test Affiliating Genes
1 Cerebral Cavernous Malformation 29 KRIT1
2 Cerebral Cavernous Malformations 1 29 KRIT1

Anatomical Context for Cerebral Cavernous Malformations

MalaCards organs/tissues related to Cerebral Cavernous Malformations:

41
Brain, Spinal Cord, Endothelial, Retina, Smooth Muscle, Skin, Heart

Publications for Cerebral Cavernous Malformations

Articles related to Cerebral Cavernous Malformations:

(show top 50) (show all 264)
# Title Authors Year
1
Management of brothers with haemophilia A and familial cerebral cavernous malformations. ( 29418046 )
2018
2
Antithrombotic medication and bleeding risk in patients with cerebral cavernous malformations: a cohort study. ( 29882707 )
2018
3
A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation. ( 29887830 )
2018
4
Intensive, functional training leads to optimal outcomes in a young woman post brain stem hemorrhage due to cerebral cavernous malformation. ( 29979899 )
2018
5
Plasma Biomarkers of Inflammation and Angiogenesis Predict Cerebral Cavernous Malformation Symptomatic Hemorrhage or Lesional Growth. ( 29720384 )
2018
6
First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing. ( 29197946 )
2018
7
KRIT1 loss-of-function induces a chronic Nrf2-mediated adaptive homeostasis that sensitizes cells to oxidative stress: Implication for Cerebral Cavernous Malformation disease. ( 29170092 )
2018
8
Surgical Management and Long-Term Seizure Outcome After Surgery for Temporal Lobe Epilepsy Associated with Cerebral Cavernous Malformations. ( 29175574 )
2018
9
Phenotypic characterization of murine models of cerebral cavernous malformations. ( 29946133 )
2018
10
Surgical Treatment and Long-Term Outcome of Cerebral Cavernous Malformations-Related Epilepsy in Pediatric Patients. ( 29677701 )
2018
11
Letter to the Editor Regarding "Long-Term Outcomes of Surgical Treatment in 181 Patients with Supratentorial Cerebral Cavernous Malformation-Associated Epilepsy". ( 29499589 )
2018
12
Connexin 43 gap junctions contribute to brain endothelial barrier hyperpermeability in familial cerebral cavernous malformations type III by modulating tight junction structure. ( 29295866 )
2018
13
Mutational analysis of CCM1, CCM2 and CCM3 in a Han Chinese cohort with multiple cerebral cavernous malformations in Taiwan. ( 29787619 )
2018
14
Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling. ( 29593473 )
2018
15
Transient Focal Magnetic Resonance Imaging Abnormalities After Status Epilepticus Showed 11C-Methionine Uptake with Positron Emission Tomography in a Patient with Cerebral Cavernous Malformation. ( 29530707 )
2018
16
Bleeding risk of cerebral cavernous malformations in patients on I^-blocker medication: a cohort study. ( 29905510 )
2018
17
Plasma Biomarkers of Inflammation Reflect Seizures and Hemorrhagic Activity of Cerebral Cavernous Malformations. ( 28819935 )
2018
18
A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation. ( 29169046 )
2018
19
Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations. ( 28000143 )
2017
20
Pregnancy Combined with Epilepsy and Cerebral Cavernous Malformation. ( 28229997 )
2017
21
Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI. ( 27153162 )
2017
22
Quantitative susceptibility mapping as a monitoring biomarker in cerebral cavernous malformations with recent hemorrhage. ( 28791783 )
2017
23
Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations. ( 28870584 )
2017
24
Gut Microbiome and Endothelial TLR4 Activation Provoke Cerebral Cavernous Malformations. ( 29088464 )
2017
25
Genetically diagnosed Birt-Hogg-DubAc syndrome and familial cerebral cavernous malformations in the same individual: a case report. ( 27722904 )
2017
26
A case of a cerebral cavernous malformation of the third ventricle that caused the syndrome of inappropriate secretion of antidiuretic hormone. ( 28540119 )
2017
27
Reliable? The Value of Early Postoperative Magnetic Resonance Imaging after Cerebral Cavernous Malformation Surgery. ( 28391022 )
2017
28
Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model. ( 28892037 )
2017
29
Corrigendum: Cerebral Cavernous Malformations: Review of the Genetic and Protein-Protein Interactions Resulting in Disease Pathogenesis. ( 28721350 )
2017
30
Familial Cerebral Cavernous Malformations Are Associated with Adrenal Calcifications on CT Scans: An Imaging Biomarker for a Hereditary Cerebrovascular Condition. ( 28318403 )
2017
31
A Novel KRIT1/CCM1 Gene Insertion Mutation Associated with Cerebral Cavernous Malformations in a Chinese Family. ( 28160210 )
2017
32
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
33
Cerebral Cavernous Malformation: When the Key to Diagnosis Is on the Skin. ( 28388986 )
2017
34
Natural history of cerebral cavernous malformations. ( 28552144 )
2017
35
Cerebral Cavernous Malformations: Patient-Reported Outcome Validates Conservative Management. ( 28968597 )
2017
36
Cerebral Cavernous Malformations. ( 28679101 )
2017
37
Multiple sporadic cerebral cavernous malformations. ( 29236895 )
2017
38
Hereditary Multiple Cerebral Cavernous Malformations Associated with Wilson Disease and Multiple Lipomatosis. ( 28602929 )
2017
39
Prevalence of cerebral cavernous malformations associated with developmental venous anomalies increases with age. ( 28643038 )
2017
40
Automated algorithm for counting microbleeds in patients with familial cerebral cavernous malformations. ( 28534135 )
2017
41
High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations. ( 28645800 )
2017
42
Familial cerebral cavernous malformation: Report of a novel KRIT1 mutation in a Portuguese family. ( 29145060 )
2017
43
Long-term outcomes of surgical treatment in181 patients with supratentorial cerebral cavernous malformation-associated epilepsy. ( 28844916 )
2017
44
Cerebrovascular malformations: Microbiota promotes cerebral cavernous malformations. ( 28548106 )
2017
45
PHACE syndrome and cerebral cavernous malformations: association or simply microhemorrhages? ( 28623519 )
2017
46
Thrombospondin1 (TSP1) replacement prevents cerebral cavernous malformations. ( 28970240 )
2017
47
Erratum: Endothelial exocytosis of angiopoietin-2 resulting from CCM3 deficiency contributes to cerebral cavernous malformation. ( 27923033 )
2016
48
Exome capture sequencing identifies a novel CCM1 mutation in a Chinese family with multiple cerebral cavernous malformations. ( 26643368 )
2016
49
Dysregulated exocytosis of angiopoietin-2 drives cerebral cavernous malformation. ( 27603130 )
2016
50
Peripheral plasma vitamin D and non-HDL cholesterol reflect the severity of cerebral cavernous malformation disease. ( 26861901 )
2016

Variations for Cerebral Cavernous Malformations

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

75
# Symbol AA change Variation ID SNP ID
1 KRIT1 p.Phe97Ser VAR_023573
2 KRIT1 p.Lys569Glu VAR_023574

ClinVar genetic disease variations for Cerebral Cavernous Malformations:

6
(show top 50) (show all 220)
# Gene Variation Type Significance SNP ID Assembly Location
1 KRIT1 KRIT1, 1283C-T single nucleotide variant Pathogenic
2 KRIT1 KRIT1, 1-BP DEL, 1342A deletion Pathogenic
3 KRIT1 KRIT1, 1-BP INS, 1271C insertion Pathogenic
4 KRIT1 NM_194456.1(KRIT1): c.1363C> T (p.Gln455Ter) single nucleotide variant Pathogenic rs267607203 GRCh37 Chromosome 7, 91852184: 91852184
5 KRIT1 NM_194456.1(KRIT1): c.1363C> T (p.Gln455Ter) single nucleotide variant Pathogenic rs267607203 GRCh38 Chromosome 7, 92222870: 92222870
6 KRIT1 KRIT1, 1-BP DEL, 103G deletion Pathogenic
7 KRIT1 KRIT1, IVS2DS, T-C, +2 single nucleotide variant Pathogenic
8 KRIT1 KRIT1, 2-BP DEL, 741TC deletion Pathogenic
9 KRIT1 NM_194456.1(KRIT1): c.410A> G (p.Asp137Gly) single nucleotide variant Pathogenic rs137853139 GRCh37 Chromosome 7, 91865802: 91865802
10 KRIT1 NM_194456.1(KRIT1): c.410A> G (p.Asp137Gly) single nucleotide variant Pathogenic rs137853139 GRCh38 Chromosome 7, 92236488: 92236488
11 KRIT1 NM_194456.1(KRIT1): c.601C> G (p.Gln201Glu) single nucleotide variant Pathogenic rs137853140 GRCh37 Chromosome 7, 91864845: 91864845
12 KRIT1 NM_194456.1(KRIT1): c.601C> G (p.Gln201Glu) single nucleotide variant Pathogenic rs137853140 GRCh38 Chromosome 7, 92235531: 92235531
13 KRIT1 KRIT1, 1-BP INS, 1374C insertion Pathogenic
14 KRIT1 NM_194456.1(KRIT1): c.987C> A (p.Cys329Ter) single nucleotide variant Pathogenic rs267607204 GRCh37 Chromosome 7, 91863765: 91863765
15 KRIT1 NM_194456.1(KRIT1): c.987C> A (p.Cys329Ter) single nucleotide variant Pathogenic rs267607204 GRCh38 Chromosome 7, 92234451: 92234451
16 KRIT1 NM_194456.1(KRIT1): c.1980A> G (p.Val660=) single nucleotide variant Benign rs11542682 GRCh37 Chromosome 7, 91842554: 91842554
17 KRIT1 NM_194456.1(KRIT1): c.1980A> G (p.Val660=) single nucleotide variant Benign rs11542682 GRCh38 Chromosome 7, 92213240: 92213240
18 KRIT1 NM_194456.1(KRIT1): c.1326C> G (p.Thr442=) single nucleotide variant Likely benign rs150912644 GRCh37 Chromosome 7, 91852221: 91852221
19 KRIT1 NM_194456.1(KRIT1): c.1326C> G (p.Thr442=) single nucleotide variant Likely benign rs150912644 GRCh38 Chromosome 7, 92222907: 92222907
20 KRIT1 NM_194456.1(KRIT1): c.1140G> A (p.Thr380=) single nucleotide variant Likely benign rs140009885 GRCh37 Chromosome 7, 91855846: 91855846
21 KRIT1 NM_194456.1(KRIT1): c.1140G> A (p.Thr380=) single nucleotide variant Likely benign rs140009885 GRCh38 Chromosome 7, 92226532: 92226532
22 KRIT1 NM_194456.1(KRIT1): c.1095A> G (p.Gly365=) single nucleotide variant Benign/Likely benign rs143710815 GRCh37 Chromosome 7, 91855891: 91855891
23 KRIT1 NM_194456.1(KRIT1): c.1095A> G (p.Gly365=) single nucleotide variant Benign/Likely benign rs143710815 GRCh38 Chromosome 7, 92226577: 92226577
24 KRIT1 NM_194456.1(KRIT1): c.1267C> T (p.Arg423Ter) single nucleotide variant Pathogenic rs886039402 GRCh37 Chromosome 7, 91852280: 91852280
25 KRIT1 NM_194456.1(KRIT1): c.1267C> T (p.Arg423Ter) single nucleotide variant Pathogenic rs886039402 GRCh38 Chromosome 7, 92222966: 92222966
26 KRIT1 NM_194456.1(KRIT1): c.715C> T (p.Gln239Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886043300 GRCh37 Chromosome 7, 91864731: 91864731
27 KRIT1 NM_194456.1(KRIT1): c.715C> T (p.Gln239Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886043300 GRCh38 Chromosome 7, 92235417: 92235417
28 PDCD10 NM_145860.1(PDCD10): c.*339G> A single nucleotide variant Uncertain significance rs528574350 GRCh38 Chromosome 3, 167683969: 167683969
29 PDCD10 NM_145860.1(PDCD10): c.*339G> A single nucleotide variant Uncertain significance rs528574350 GRCh37 Chromosome 3, 167401757: 167401757
30 PDCD10 NM_145860.1(PDCD10): c.*174C> T single nucleotide variant Uncertain significance rs886058159 GRCh38 Chromosome 3, 167684134: 167684134
31 PDCD10 NM_145860.1(PDCD10): c.*174C> T single nucleotide variant Uncertain significance rs886058159 GRCh37 Chromosome 3, 167401922: 167401922
32 PDCD10 NM_145860.1(PDCD10): c.*141C> T single nucleotide variant Uncertain significance rs886058160 GRCh38 Chromosome 3, 167684167: 167684167
33 PDCD10 NM_145860.1(PDCD10): c.*141C> T single nucleotide variant Uncertain significance rs886058160 GRCh37 Chromosome 3, 167401955: 167401955
34 PDCD10 NM_145860.1(PDCD10): c.*87A> T single nucleotide variant Uncertain significance rs886058161 GRCh38 Chromosome 3, 167684221: 167684221
35 PDCD10 NM_145860.1(PDCD10): c.*87A> T single nucleotide variant Uncertain significance rs886058161 GRCh37 Chromosome 3, 167402009: 167402009
36 PDCD10 NM_145860.1(PDCD10): c.214G> C (p.Val72Leu) single nucleotide variant Likely benign rs562763010 GRCh37 Chromosome 3, 167414851: 167414851
37 PDCD10 NM_145860.1(PDCD10): c.214G> C (p.Val72Leu) single nucleotide variant Likely benign rs562763010 GRCh38 Chromosome 3, 167697063: 167697063
38 PDCD10; SERPINI1 NM_005025.4(SERPINI1): c.-239G> A single nucleotide variant Benign/Likely benign rs9835352 GRCh37 Chromosome 3, 167453703: 167453703
39 PDCD10; SERPINI1 NM_005025.4(SERPINI1): c.-239G> A single nucleotide variant Benign/Likely benign rs9835352 GRCh38 Chromosome 3, 167735915: 167735915
40 PDCD10 NM_145860.1(PDCD10): c.*63T> C single nucleotide variant Uncertain significance rs886058162 GRCh38 Chromosome 3, 167684245: 167684245
41 PDCD10 NM_145860.1(PDCD10): c.*63T> C single nucleotide variant Uncertain significance rs886058162 GRCh37 Chromosome 3, 167402033: 167402033
42 PDCD10 NM_145860.1(PDCD10): c.574G> A (p.Val192Ile) single nucleotide variant Uncertain significance rs151267430 GRCh38 Chromosome 3, 167684373: 167684373
43 PDCD10 NM_145860.1(PDCD10): c.574G> A (p.Val192Ile) single nucleotide variant Uncertain significance rs151267430 GRCh37 Chromosome 3, 167402161: 167402161
44 PDCD10 NM_145860.1(PDCD10): c.-151C> T single nucleotide variant Uncertain significance rs886058164 GRCh37 Chromosome 3, 167452628: 167452628
45 PDCD10 NM_145860.1(PDCD10): c.-151C> T single nucleotide variant Uncertain significance rs886058164 GRCh38 Chromosome 3, 167734840: 167734840
46 PDCD10 NM_145860.1(PDCD10): c.*221T> C single nucleotide variant Uncertain significance rs886058158 GRCh38 Chromosome 3, 167684087: 167684087
47 PDCD10 NM_145860.1(PDCD10): c.*221T> C single nucleotide variant Uncertain significance rs886058158 GRCh37 Chromosome 3, 167401875: 167401875
48 PDCD10 NM_145860.1(PDCD10): c.-116-9T> C single nucleotide variant Benign/Likely benign rs146858915 GRCh37 Chromosome 3, 167438070: 167438070
49 PDCD10 NM_145860.1(PDCD10): c.-116-9T> C single nucleotide variant Benign/Likely benign rs146858915 GRCh38 Chromosome 3, 167720282: 167720282
50 PDCD10; SERPINI1 NM_005025.4(SERPINI1): c.-214A> G single nucleotide variant Likely benign rs145045884 GRCh37 Chromosome 3, 167453728: 167453728

Cosmic variations for Cerebral Cavernous Malformations:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM52975 GNAQ soft tissue,blood vessel,other,vascular malformation c.548G>A p.R183Q 9:77797577-77797577 6
2 COSM5945938 GNAQ soft tissue,blood vessel,other,vascular malformation c.548G>T p.R183L 9:77797577-77797577 6

Expression for Cerebral Cavernous Malformations

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

Pathways for Cerebral Cavernous Malformations

Pathways related to Cerebral Cavernous Malformations according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.49 ITGB1BP1 KDR PTEN
2 10.95 KDR SERPINI1
3 10.42 CCM2 MAP3K3
4 10.05 CCM2 MAP3K3

GO Terms for Cerebral Cavernous Malformations

Biological processes related to Cerebral Cavernous Malformations according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.62 ITGB1BP1 KDR PDCD10 PTEN
2 positive regulation of Notch signaling pathway GO:0045747 9.51 ITGB1BP1 PDCD10
3 positive regulation of endothelial cell migration GO:0010595 9.49 ITGB1BP1 KDR
4 protein kinase B signaling GO:0043491 9.48 KDR PTEN
5 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.46 ITGB1BP1 PDCD10
6 negative regulation of endothelial cell apoptotic process GO:2000352 9.43 KDR KRIT1
7 positive regulation of cell migration involved in sprouting angiogenesis GO:0090050 9.4 KDR MAP3K3
8 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.37 CDKN3 PTEN
9 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.26 ITGB1BP1 KDR
10 positive regulation of focal adhesion assembly GO:0051894 9.16 ITGB1BP1 KDR
11 negative regulation of focal adhesion assembly GO:0051895 8.96 ITGB1BP1 PTEN
12 angiogenesis GO:0001525 8.92 KDR KRIT1 PDCD10 PTEN

Molecular functions related to Cerebral Cavernous Malformations according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine/serine/threonine phosphatase activity GO:0008138 8.62 CDKN3 PTEN

Sources for Cerebral Cavernous Malformations

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
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64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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