CCM1
MCID: CRB048
MIFTS: 63

Cerebral Cavernous Malformations (CCM1)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare 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 MAPK Signaling: Mitogen Stimulation Pathway and AKT Signaling Pathway. The drugs CEA-Scan and Cervarix have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and endothelial, and related phenotypes are seizures and cerebral calcification

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 top 50) (show all 266)
# Related Disease Score Top Affiliating Genes
1 cerebral cavernous malformations 2 33.9 PDCD10 MAP3K3 KRIT1 CCM2L CCM2
2 cerebral cavernous malformations 3 33.9 PDCD10 MAP3K3 KRIT1 ITGB1BP1 CCM2
3 cavernous hemangioma 32.4 PDCD10 KRIT1 KDR CCM2
4 cavernous malformation 31.9 SERPINI1 PDCD10 MAP3K3 KRIT1 ITGB1BP1 CCM2L
5 venous malformations, multiple cutaneous and mucosal 31.7 PTEN PDCD10 KRIT1 CCM2
6 klippel-trenaunay-weber syndrome 30.1 PDCD10 KRIT1 CCM2
7 hemangioma 29.8 PTEN KRIT1 KDR CCM2
8 arteriovenous malformations of the brain 29.6 PDCD10 KDR
9 cerebral cavernous malformation, familial 12.7
10 dermal unilateral segmental cavernous angioma 12.2
11 cerebrocostomandibular syndrome 11.9
12 cataract 5, multiple types 11.8
13 sengers syndrome 11.3
14 cavernous hemangioma of orbit 11.2
15 vascular erectile tumor 11.2
16 congenital vascular cavernous malformations 11.2
17 familial hemangioma 11.2
18 cobb syndrome 11.1
19 intracranial cavernous angioma 11.0
20 hemangioma, capillary infantile 11.0
21 hepatosplenic t-cell lymphoma 10.7
22 epilepsy 10.5
23 hemangioma of orbit 10.2
24 breast cancer 10.2
25 vascular hemostatic disease 10.1 KRIT1 CCM2
26 hypertrophic olivary degeneration 10.1
27 encephalopathy, familial, with neuroserpin inclusion bodies 10.1 SERPINI1 PDCD10
28 ovarian cancer 10.1
29 adenocarcinoma 10.1
30 portal hypertension 10.1
31 trigeminal neuralgia 10.1
32 factor vii deficiency 10.1
33 focal dystonia 10.1
34 human venous malformation 10.1 PDCD10 KRIT1 CCM2
35 cell type benign neoplasm 10.0 PDCD10 KRIT1 CCM2
36 temporal lobe epilepsy 10.0
37 lung cancer 10.0
38 pancreatic cancer 10.0
39 leukemia 10.0
40 osteoarthritis 10.0
41 squamous cell carcinoma 10.0
42 melanoma 10.0
43 slipped capital femoral epiphysis 10.0
44 portal vein thrombosis 10.0
45 severe cutaneous adverse reaction 10.0
46 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.0
47 colorectal cancer 10.0
48 developmental dysplasia of the hip 1 10.0
49 small cell cancer of the lung 10.0
50 lymphoma 10.0

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 22)
# Description HPO Frequency HPO Source Accession
1 seizures 32 hallmark (90%) HP:0001250
2 cerebral calcification 32 HP:0002514
3 scoliosis 32 frequent (33%) HP:0002650
4 increased intracranial pressure 32 frequent (33%) HP:0002516
5 vascular skin abnormality 32 occasional (7.5%) HP:0011276
6 cognitive impairment 32 occasional (7.5%) HP:0100543
7 abnormality of the musculature 32 HP:0003011
8 intracranial hemorrhage 32 HP:0002170
9 headache 32 hallmark (90%) HP:0002315
10 meningioma 32 frequent (33%) HP:0002858
11 cerebral hemorrhage 32 hallmark (90%) HP:0001342
12 spinal cord lesion 32 occasional (7.5%) HP:0100561
13 abnormality of the skin 32 HP:0000951
14 episodic vomiting 32 occasional (7.5%) HP:0002572
15 retinal vascular malformation 32 HP:0007797
16 hepatic vascular malformations 32 HP:0006576
17 venous malformation 32 occasional (7.5%) HP:0012721
18 choroidal hemangioma 32 occasional (7.5%) HP:0007872
19 retinal cavernous angioma 32 occasional (7.5%) HP:0011513
20 focal t2 hyperintense brainstem lesion 32 frequent (33%) HP:0012748
21 focal t2 hypointense brainstem lesion 32 frequent (33%) HP:0012749
22 neuroma 32 frequent (33%) HP:0030430

MGI Mouse Phenotypes related to Cerebral Cavernous Malformations:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.87 CCM2 CCM2L KDR KRIT1 MAP3K3 PDCD10
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

FDA approved drugs:

(show all 6)
# Drug Name Active Ingredient(s) 18 Company Approval Date
1
CEA-Scan 18 Immunomedics April 1996
2
Cervarix 18 49 Human Papillomavirus Bivalent (Types 16 and 18) Vaccine, Recombinant GlaxoSmithKline October 2009
3
Hycamtin 18 49 TOPOTECAN HYDROCHLORIDE GlaxoSmithKline/ SmithKline Beecham October 2007/May 1996
4
Miraluma Test 18 TECHNETIUM TC-99M SESTAMIBI KIT DuPont Merck Pharmaceutical Company May 1997
5
Photodynamic Therapy (& Photofrin) 18 PORFIMER SODIUM Sanofi-aventis January, 1996
6
Daliresp 18 ROFLUMILAST Forest Pharmaceuticals February 2011

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Phase 2 525-66-6 4946
2 Vasodilator Agents Phase 2
3 Antihypertensive Agents Phase 2
4 Adrenergic beta-Antagonists Phase 2
5 Adrenergic Antagonists Phase 2
6 Neurotransmitter Agents Phase 2
7 Adrenergic Agents Phase 2
8 Anti-Arrhythmia Agents Phase 2
9 Anticholesteremic Agents Phase 1, Phase 2,Early Phase 1
10 Atorvastatin Calcium Phase 1, Phase 2 134523-03-8
11 Calcium, Dietary Phase 1, Phase 2
12 Antimetabolites Phase 1, Phase 2,Early Phase 1
13 Lipid Regulating Agents Phase 1, Phase 2,Early Phase 1
14 Hypolipidemic Agents Phase 1, Phase 2,Early Phase 1
15 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2,Early Phase 1
16
Simvastatin Approved Early Phase 1 79902-63-9 54454
17 Neuroserpin
18 Astragalus
19 Analgesics
20 Anticonvulsants

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treat_CCM: Propranolol in Cerebral Cavernous Malformation Recruiting NCT03589014 Phase 2 Propranolol
2 Effect of Oral Propranolol on mRNA Expresssion in Symptomatic Cavernous Malformation Recruiting NCT03474614 Phase 2 Propranolol
3 Atorvastatin Treatment of Cavernous Angiomas With Symptomatic Hemorrhage Exploratory Proof of Concept (AT CASH EPOC) Trial Recruiting NCT02603328 Phase 1, Phase 2 Atorvastatin
4 Genetic Disease Gene Identification Unknown status NCT00916903
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
8 Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of Statins Completed NCT01764451 Early Phase 1 Simvastatin
9 CASH (Cavernous Angiomas With Symptomatic Hemorrhage) Trial Readiness Recruiting NCT03652181

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, Skin, Smooth Muscle, B Cells

Publications for Cerebral Cavernous Malformations

Articles related to Cerebral Cavernous Malformations:

(show top 50) (show all 445)
# 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
The cerebral cavernous malformation disease causing gene KRIT1 participates in intestinal epithelial barrier maintenance and regulation. ( 30252535 )
2018
20
Biomechanics of Endothelial Tubule Formation Differentially Modulated by Cerebral Cavernous Malformation Proteins. ( 30453164 )
2018
21
Emerging Pharmacologic Targets in Cerebral Cavernous Malformation and Potential Strategies to Alter the Natural History of a Difficult Disease: A Review. ( 30476961 )
2018
22
Keyhole, Trans-Sylvian, Trans-Sulcal Resection of an Insular Cerebral Cavernous Malformation: 2-Dimensional Operative Video. ( 30496497 )
2018
23
Multifunctional Platinum@BSA-Rapamycin Nanocarriers for the Combinatorial Therapy of Cerebral Cavernous Malformation. ( 30556006 )
2018
24
Genome-Wide Sequencing Reveals Small Nucleolar RNAs Downregulated in Cerebral Cavernous Malformations. ( 29992390 )
2018
25
Contemporary radiosurgery of cerebral cavernous malformations: Part 1. Treatment outcome for critically located hemorrhagic lesions. ( 30052154 )
2018
26
Contemporary radiosurgery of cerebral cavernous malformations: Part 2. Treatment outcome for hemispheric lesions. ( 30052157 )
2018
27
Hippocampal Transection Plus Tumor Resection as a Novel Surgical Treatment for Temporal Lobe Epilepsy Associated with Cerebral Cavernous Malformations. ( 30064030 )
2018
28
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion. ( 30161288 )
2018
29
Systematic pharmacological screens uncover novel pathways involved in cerebral cavernous malformations. ( 30181117 )
2018
30
Is Extended Lesionectomy Needed for Patients with Cerebral Cavernous Malformations Presenting with Epilepsy? A Meta-Analysis. ( 30196170 )
2018
31
Cerebral Cavernous Malformations Develop Through Clonal Expansion of Mutant Endothelial Cells. ( 30359189 )
2018
32
Routinely Performed Serial Follow-Up Imaging in Asymptomatic Patients With Multiple Cerebral Cavernous Malformations Has No Influence on Surgical Decision Making. ( 30364312 )
2018
33
Ponatinib (AP24534) inhibits MEKK3-KLF signaling and prevents formation and progression of cerebral cavernous malformations. ( 30417093 )
2018
34
Cerebral cavernous malformations form an anticoagulant vascular domain. ( 30442679 )
2018
35
Letter to the Editor. Radiosurgery for cerebral cavernous malformations: a word of caution. ( 30485201 )
2018
36
Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance. ( 30487773 )
2018
37
Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis. ( 30523548 )
2018
38
Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations. ( 28000143 )
2017
39
Pregnancy Combined with Epilepsy and Cerebral Cavernous Malformation. ( 28229997 )
2017
40
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
41
Quantitative susceptibility mapping as a monitoring biomarker in cerebral cavernous malformations with recent hemorrhage. ( 28791783 )
2017
42
Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations. ( 28870584 )
2017
43
Gut Microbiome and Endothelial TLR4 Activation Provoke Cerebral Cavernous Malformations. ( 29088464 )
2017
44
Genetically diagnosed Birt-Hogg-DubAc syndrome and familial cerebral cavernous malformations in the same individual: a case report. ( 27722904 )
2017
45
A case of a cerebral cavernous malformation of the third ventricle that caused the syndrome of inappropriate secretion of antidiuretic hormone. ( 28540119 )
2017
46
Reliable? The Value of Early Postoperative Magnetic Resonance Imaging after Cerebral Cavernous Malformation Surgery. ( 28391022 )
2017
47
Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model. ( 28892037 )
2017
48
Corrigendum: Cerebral Cavernous Malformations: Review of the Genetic and Protein-Protein Interactions Resulting in Disease Pathogenesis. ( 28721350 )
2017
49
Familial Cerebral Cavernous Malformations Are Associated with Adrenal Calcifications on CT Scans: An Imaging Biomarker for a Hereditary Cerebrovascular Condition. ( 28318403 )
2017
50
A Novel KRIT1/CCM1 Gene Insertion Mutation Associated with Cerebral Cavernous Malformations in a Chinese Family. ( 28160210 )
2017

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 238)
# Gene Variation Type Significance SNP ID Assembly Location
1 KRIT1 KRIT1, 1-BP DEL, 1342A deletion Pathogenic
2 KRIT1 KRIT1, 1-BP INS, 1271C insertion Pathogenic
3 KRIT1 KRIT1, 1283C-T single nucleotide variant 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.1267C> T (p.Arg423Ter) single nucleotide variant Pathogenic rs886039402 GRCh37 Chromosome 7, 91852280: 91852280
17 KRIT1 NM_194456.1(KRIT1): c.1267C> T (p.Arg423Ter) single nucleotide variant Pathogenic rs886039402 GRCh38 Chromosome 7, 92222966: 92222966
18 KRIT1 NM_194456.1(KRIT1): c.146_147delGA (p.Arg49Lysfs) deletion Likely pathogenic rs1057518665 GRCh37 Chromosome 7, 91870422: 91870423
19 PDCD10; SERPINI1 NM_005025.4(SERPINI1): c.-1308C> G single nucleotide variant Conflicting interpretations of pathogenicity rs546722173 GRCh37 Chromosome 3, 167452634: 167452634
20 PDCD10; SERPINI1 NM_005025.4(SERPINI1): c.-1308C> G single nucleotide variant Conflicting interpretations of pathogenicity rs546722173 GRCh38 Chromosome 3, 167734846: 167734846
21 KRIT1 NM_194456.1(KRIT1): c.146_147delGA (p.Arg49Lysfs) deletion Likely pathogenic rs1057518665 GRCh38 Chromosome 7, 92241108: 92241109
22 KRIT1 NM_194456.1(KRIT1): c.729+2T> C single nucleotide variant Pathogenic GRCh38 Chromosome 7, 92235401: 92235401
23 KRIT1 NM_194456.1(KRIT1): c.729+2T> C single nucleotide variant Pathogenic GRCh37 Chromosome 7, 91864715: 91864715
24 KRIT1 NM_194456.1(KRIT1): c.1144dup (p.Arg382Lysfs) duplication Pathogenic GRCh37 Chromosome 7, 91855842: 91855842
25 KRIT1 NM_194456.1(KRIT1): c.1144dup (p.Arg382Lysfs) duplication Pathogenic GRCh38 Chromosome 7, 92226528: 92226528
26 KRIT1 NM_194456.1(KRIT1): c.-2-308C> T single nucleotide variant not provided rs567181702 GRCh37 Chromosome 7, 91871759: 91871759
27 KRIT1 NM_194456.1(KRIT1): c.-2-308C> T single nucleotide variant not provided rs567181702 GRCh38 Chromosome 7, 92242445: 92242445
28 KRIT1 NM_194456.1(KRIT1): c.262+1138G> A single nucleotide variant not provided rs560870062 GRCh37 Chromosome 7, 91869169: 91869169
29 KRIT1 NM_194456.1(KRIT1): c.262+1138G> A single nucleotide variant not provided rs560870062 GRCh38 Chromosome 7, 92239855: 92239855
30 KRIT1 NM_194456.1(KRIT1): c.729+211T> A single nucleotide variant not provided GRCh37 Chromosome 7, 91864506: 91864506
31 KRIT1 NM_194456.1(KRIT1): c.729+211T> A single nucleotide variant not provided GRCh38 Chromosome 7, 92235192: 92235192
32 KRIT1 NM_194456.1(KRIT1): c.2143-1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 92200805: 92200805
33 KRIT1 NM_194456.1(KRIT1): c.2143-1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 7, 91830119: 91830119
34 KRIT1 NM_194456.1(KRIT1): c.990G> A (p.Trp330Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 92226682: 92226682
35 KRIT1 NM_194456.1(KRIT1): c.990G> A (p.Trp330Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 91855996: 91855996
36 KRIT1 NM_194456.1(KRIT1): c.812G> A (p.Trp271Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 92234841: 92234841
37 KRIT1 NM_194456.1(KRIT1): c.812G> A (p.Trp271Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 91864155: 91864155
38 KRIT1 NM_194456.1(KRIT1): c.500G> A (p.Arg167His) single nucleotide variant Uncertain significance rs374246090 GRCh38 Chromosome 7, 92235632: 92235632
39 KRIT1 NM_194456.1(KRIT1): c.500G> A (p.Arg167His) single nucleotide variant Uncertain significance rs374246090 GRCh37 Chromosome 7, 91864946: 91864946
40 KRIT1 NM_194456.1(KRIT1): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 7, 92242135: 92242135
41 KRIT1 NM_194456.1(KRIT1): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 7, 91871449: 91871449
42 KRIT1 NM_194456.1(KRIT1): c.2119_2120delAG (p.Ser707Leufs) deletion Pathogenic GRCh38 Chromosome 7, 92201329: 92201330
43 KRIT1 NM_194456.1(KRIT1): c.2119_2120delAG (p.Ser707Leufs) deletion Pathogenic GRCh37 Chromosome 7, 91830643: 91830644
44 KRIT1 NM_194456.1(KRIT1): c.196C> T (p.Gln66Ter) single nucleotide variant Pathogenic rs771656368 GRCh38 Chromosome 7, 92241059: 92241059
45 KRIT1 NM_194456.1(KRIT1): c.196C> T (p.Gln66Ter) single nucleotide variant Pathogenic rs771656368 GRCh37 Chromosome 7, 91870373: 91870373
46 KRIT1 NM_194456.1(KRIT1): c.896delG (p.Gly299Glufs) deletion Likely pathogenic GRCh38 Chromosome 7, 92234542: 92234542
47 KRIT1 NM_194456.1(KRIT1): c.896delG (p.Gly299Glufs) deletion Likely pathogenic GRCh37 Chromosome 7, 91863856: 91863856
48 KRIT1 NM_194456.1(KRIT1): c.1437_1438delAC (p.Lys479Asnfs) deletion Pathogenic GRCh37 Chromosome 7, 91851341: 91851342
49 KRIT1 NM_194456.1(KRIT1): c.1437_1438delAC (p.Lys479Asnfs) deletion Pathogenic GRCh38 Chromosome 7, 92222027: 92222028
50 KRIT1 NM_194456.1(KRIT1): c.1204_1208delAACAA (p.Asn402Leufs) deletion Pathogenic GRCh38 Chromosome 7, 92225766: 92225770

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
Show member pathways
11.62 ITGB1BP1 KDR PTEN
2 11.29 ITGB1BP1 KDR PTEN
3 11.01 KDR SERPINI1
4 10.62 CCM2 MAP3K3
5 10.05 CCM2 MAP3K3

GO Terms for Cerebral Cavernous Malformations

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.56 ITGB1BP1 KDR PDCD10 PTEN
2 positive regulation of Notch signaling pathway GO:0045747 9.48 ITGB1BP1 PDCD10
3 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.46 ITGB1BP1 PDCD10
4 positive regulation of cell migration involved in sprouting angiogenesis GO:0090050 9.43 KDR MAP3K3
5 protein kinase B signaling GO:0043491 9.4 KDR PTEN
6 negative regulation of endothelial cell apoptotic process GO:2000352 9.37 KDR KRIT1
7 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.32 ITGB1BP1 KDR
8 positive regulation of focal adhesion assembly GO:0051894 9.16 ITGB1BP1 KDR
9 negative regulation of focal adhesion assembly GO:0051895 8.96 ITGB1BP1 PTEN
10 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
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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