CCM1
MCID: CRB048
MIFTS: 63

Cerebral Cavernous Malformations (CCM1)

Categories: Cardiovascular diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebral Cavernous Malformations

MalaCards integrated aliases for Cerebral Cavernous Malformations:

Name: Cerebral Cavernous Malformations 58 77 56 41
Cerebral Cavernous Malformation 12 77 54 26 55 38 30 6 15
Cerebral Cavernous Malformations 1 76 30 6 74
Cavernous Malformations of Cns and Retina 58 13 6
Cavernous Angiomatous Malformations 58 12 76
Cerebral Capillary Malformations 58 12 76
Ccm 58 54 26
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations 58 6
Hemangioma, Cavernous, Central Nervous System 45 17
Familial Cerebral Cavernous Malformation 26 74
Cerebral Cavernous Malformation 1 12 15
Cerebral Cavernous Hemangioma 54 26
Familial Cavernous Angioma 12 76
Cavernous Angioma 54 55
Central Nervous System Cavernous Hemangioma 26
Cavernous Angiomatous Malformations; Cam 58
Cerebral Cavernous Malformations, Type 1 41
Familial Cerebral Cavernous Angioma 26
Cerebral Cavernous Malformations-1 58
Intracerebral Cavernous Hemangioma 26
Cavernous Hemangioma of the Brain 76
Familial Cavernous Malformation 26
Familial Cavernous Hemangioma 26
Cavernous Angioma, Familial 58
Hemangioma, Cavernous 74
Cerebral Cavernoma 76
Angioma, Cavernous 74
Cavernoma 54
Ccm1 76
Cam 58

Characteristics:

OMIM:

58
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:

33
cerebral cavernous malformations:
Onset and clinical course incomplete penetrance
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Cerebral Cavernous Malformations

NIH Rare Diseases : 54 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 3 and cerebral cavernous malformations 2. An important gene associated with Cerebral Cavernous Malformations is KRIT1 (KRIT1 Ankyrin Repeat Containing), and among its related pathways/superpathways are Focal Adhesion and B Cell Receptor Signaling Pathway (sino). The drugs Propranolol and Atorvastatin have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and endothelial, and related phenotypes are seizures and headache

Disease Ontology : 12 A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support.

Genetics Home Reference : 26 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 : 58 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 : 55 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 : 76 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 : 77 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 334)
# Related Disease Score Top Affiliating Genes
1 cerebral cavernous malformations 3 33.8 CCM2 ITGB1BP1 KRIT1 MAP3K3 PDCD10
2 cerebral cavernous malformations 2 33.3 CCM2 CCM2L KRIT1 MAP3K3 PDCD10 RAP1A
3 cavernous hemangioma 32.2 CCM2 KDR KRIT1 PDCD10
4 cavernous malformation 31.8 CCM2 CCM2L ITGB1BP1 KRIT1 MAP3K3 PDCD10
5 venous malformations, multiple cutaneous and mucosal 31.6 CCM2 KRIT1 PDCD10 PTEN
6 klippel-trenaunay-weber syndrome 30.2 CCM2 KRIT1 PDCD10
7 human venous malformation 29.9 CCM2 KRIT1 PDCD10
8 arteriovenous malformations of the brain 29.8 KDR PDCD10
9 hemangioma 29.5 CCM2 KDR KRIT1 PTEN
10 cerebral cavernous malformation, familial 12.8
11 dermal unilateral segmental cavernous angioma 12.3
12 cataract 5, multiple types 12.1
13 cerebrocostomandibular syndrome 12.0
14 sengers syndrome 11.4
15 cavernous hemangioma of orbit 11.3
16 vascular erectile tumor 11.3
17 congenital vascular cavernous malformations 11.3
18 familial hemangioma 11.3
19 cobb syndrome 11.1
20 intracranial cavernous angioma 11.1
21 hemangioma, capillary infantile 11.0
22 hepatosplenic t-cell lymphoma 10.8
23 epilepsy 10.5
24 subacute delirium 10.3
25 breast cancer 10.3
26 trigeminal neuralgia 10.3
27 hemangioma of orbit 10.2
28 vascular hemostatic disease 10.2 CCM2 KRIT1
29 heparin-induced thrombocytopenia 10.2
30 amblyopia 10.2
31 scoliosis 10.2
32 suppression amblyopia 10.2
33 arteriovenous malformation 10.1
34 portal hypertension 10.1
35 obstructive jaundice 10.1
36 hypertrophic olivary degeneration 10.1
37 ovarian cancer 10.1
38 leukemia 10.1
39 adenocarcinoma 10.1
40 small cell carcinoma 10.1
41 osteoarthritis 10.1
42 slipped capital femoral epiphysis 10.1
43 epiphysiolysis of the hip 10.1
44 factor vii deficiency 10.1
45 angiosarcoma 10.1
46 focal dystonia 10.1
47 intracranial aneurysm 10.1
48 tremor 10.1
49 scoliosis, isolated 1 10.1
50 pancreatic cancer 10.1

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



Diseases related to Cerebral Cavernous Malformations

Symptoms & Phenotypes for Cerebral Cavernous Malformations

Human phenotypes related to Cerebral Cavernous Malformations:

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

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
headache
intracranial hemorrhage
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

MGI Mouse Phenotypes related to Cerebral Cavernous Malformations:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 CCM2 CCM2L DLL4 KDR KRIT1 MAP3K3
2 growth/size/body region MP:0005378 10.01 CCM2 DLL4 ITGB1BP1 KDR KRIT1 MAP3K3
3 embryo MP:0005380 9.98 CCM2 DLL4 KDR KRIT1 MAP3K3 PDCD10
4 mortality/aging MP:0010768 9.96 CCM2 CCM2L DLL4 ITGB1BP1 KDR KRIT1
5 hematopoietic system MP:0005397 9.91 CCM2 DLL4 KDR MAP3K3 PDCD10 PTEN
6 immune system MP:0005387 9.87 CCM2 DLL4 KDR MAP3K3 PDCD10 PTEN
7 muscle MP:0005369 9.76 CCM2 CCM2L DLL4 KDR KRIT1 MAP3K3
8 normal MP:0002873 9.5 CCM2 CCM2L DLL4 ITGB1BP1 KDR PDCD10
9 vision/eye MP:0005391 9.17 CCM2 DLL4 ITGB1BP1 KDR KRIT1 PDCD10

Drugs & Therapeutics for Cerebral Cavernous Malformations

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Phase 2 525-66-6 4946
2
Atorvastatin Approved Phase 1, Phase 2 134523-00-5 60823
3 Neurotransmitter Agents Phase 2
4 Adrenergic Agents Phase 2
5 Anti-Arrhythmia Agents Phase 2
6 Adrenergic beta-Antagonists Phase 2
7 Antihypertensive Agents Phase 2
8 Adrenergic Antagonists Phase 2
9 Vasodilator Agents Phase 2
10 Anticholesteremic Agents Phase 1, Phase 2,Early Phase 1
11 Antimetabolites Phase 1, Phase 2,Early Phase 1
12 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2,Early Phase 1
13 Hypolipidemic Agents Phase 1, Phase 2,Early Phase 1
14 Lipid Regulating Agents Phase 1, Phase 2,Early Phase 1
15
Simvastatin Approved Early Phase 1 79902-63-9 54454
16 Astragalus
17 Neuroserpin
18 Anticonvulsants
19 Analgesics

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 30 KRIT1
2 Cerebral Cavernous Malformations 1 30 KRIT1

Anatomical Context for Cerebral Cavernous Malformations

MalaCards organs/tissues related to Cerebral Cavernous Malformations:

42
Brain, Spinal Cord, Endothelial, Smooth Muscle, Retina, Skin, Prostate

Publications for Cerebral Cavernous Malformations

Articles related to Cerebral Cavernous Malformations:

(show top 50) (show all 472)
# Title Authors Year
1
Familial Cerebral Cavernous Malformations. ( 30909834 )
2019
2
Commentary: Minimally Invasive Parafascicular Surgery for Resection of Cerebral Cavernous Malformations Utilizing Image-Guided BrainPath System. ( 30873563 )
2019
3
Safety and effectiveness of stereotactic laser ablation for epileptogenic cerebral cavernous malformations. ( 30653657 )
2019
4
Could propranolol be beneficial in adult cerebral cavernous malformations? ( 30610500 )
2019
5
Cerebral cavernous malformations form an anticoagulant vascular domain in humans and mice. ( 30442679 )
2019
6
Phenotypic characterization of murine models of cerebral cavernous malformations. ( 29946133 )
2019
7
YKL-40 can promote angiogenesis in sporadic cerebral cavernous malformation (CCM). ( 30948312 )
2019
8
Coexistent Cerebral Cavernous Malformation and Developmental Venous Anomaly: Does an Aggressive Natural History Always Call for Surgical Intervention? ( 30937065 )
2019
9
First case of neutropenia and thrombocytopenia in the setting of cerebral cavernous malformation 3. ( 30904992 )
2019
10
Letter to the Editor. The treatment of cerebral cavernous malformation-related hemorrhage using β-blocker medication. ( 30771775 )
2019
11
Comprehensive transcriptome analysis of cerebral cavernous malformation across multiple species and genotypes. ( 30728328 )
2019
12
Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family. ( 30701383 )
2019
13
KRIT1 Loss-Of-Function Associated with Cerebral Cavernous Malformation Disease Leads to Enhanced S-Glutathionylation of Distinct Structural and Regulatory Proteins. ( 30658464 )
2019
14
Suboccipital Craniotomy for Resection of a Dorsal Medullary Cerebral Cavernous Malformation: 2-Dimensional Operative Video. ( 30649553 )
2019
15
Mutational analysis of CCM1, CCM2 and CCM3 in a Han Chinese cohort with multiple cerebral cavernous malformations in Taiwan. ( 29787619 )
2018
16
Surgical Treatment and Long-Term Outcome of Cerebral Cavernous Malformations-Related Epilepsy in Pediatric Patients. ( 29677701 )
2018
17
Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling. ( 29593473 )
2018
18
Novel KRIT1/CCM1 and MGC4607/CCM2 Gene Variants in Chinese Families With Cerebral Cavernous Malformations. ( 30622508 )
2018
19
Minimally Invasive Parafascicular Surgery for Resection of Cerebral Cavernous Malformations Utilizing Image-Guided BrainPath System. ( 30566686 )
2018
20
Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis. ( 30523548 )
2018
21
Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance. ( 30487773 )
2018
22
Letter to the Editor. Radiosurgery for cerebral cavernous malformations: a word of caution. ( 30485201 )
2018
23
Ponatinib (AP24534) inhibits MEKK3-KLF signaling and prevents formation and progression of cerebral cavernous malformations. ( 30417093 )
2018
24
Routinely Performed Serial Follow-Up Imaging in Asymptomatic Patients With Multiple Cerebral Cavernous Malformations Has No Influence on Surgical Decision Making. ( 30364312 )
2018
25
Cerebral Cavernous Malformations Develop Through Clonal Expansion of Mutant Endothelial Cells. ( 30359189 )
2018
26
Is Extended Lesionectomy Needed for Patients with Cerebral Cavernous Malformations Presenting with Epilepsy? A Meta-Analysis. ( 30196170 )
2018
27
Systematic pharmacological screens uncover novel pathways involved in cerebral cavernous malformations. ( 30181117 )
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
Hippocampal Transection Plus Tumor Resection as a Novel Surgical Treatment for Temporal Lobe Epilepsy Associated with Cerebral Cavernous Malformations. ( 30064030 )
2018
30
Contemporary radiosurgery of cerebral cavernous malformations: Part 2. Treatment outcome for hemispheric lesions. ( 30052157 )
2018
31
Contemporary radiosurgery of cerebral cavernous malformations: Part 1. Treatment outcome for critically located hemorrhagic lesions. ( 30052154 )
2018
32
Genome-Wide Sequencing Reveals Small Nucleolar RNAs Downregulated in Cerebral Cavernous Malformations. ( 29992390 )
2018
33
Bleeding risk of cerebral cavernous malformations in patients on β-blocker medication: a cohort study. ( 29905510 )
2018
34
Antithrombotic medication and bleeding risk in patients with cerebral cavernous malformations: a cohort study. ( 29882707 )
2018
35
The Differentially Expressed Genes of Human Sporadic Cerebral Cavernous Malformations. ( 29454117 )
2018
36
Management of brothers with haemophilia A and familial cerebral cavernous malformations. ( 29418046 )
2018
37
Connexin 43 gap junctions contribute to brain endothelial barrier hyperpermeability in familial cerebral cavernous malformations type III by modulating tight junction structure. ( 29295866 )
2018
38
Surgical Management and Long-Term Seizure Outcome After Surgery for Temporal Lobe Epilepsy Associated with Cerebral Cavernous Malformations. ( 29175574 )
2018
39
Plasma Biomarkers of Inflammation Reflect Seizures and Hemorrhagic Activity of Cerebral Cavernous Malformations. ( 28819935 )
2018
40
Quantitative susceptibility mapping as a monitoring biomarker in cerebral cavernous malformations with recent hemorrhage. ( 28791783 )
2018
41
Multifunctional Platinum@BSA-Rapamycin Nanocarriers for the Combinatorial Therapy of Cerebral Cavernous Malformation. ( 30556006 )
2018
42
Keyhole, Trans-Sylvian, Trans-Sulcal Resection of an Insular Cerebral Cavernous Malformation: 2-Dimensional Operative Video. ( 30496497 )
2018
43
Emerging Pharmacologic Targets in Cerebral Cavernous Malformation and Potential Strategies to Alter the Natural History of a Difficult Disease: A Review. ( 30476961 )
2018
44
Biomechanics of Endothelial Tubule Formation Differentially Modulated by Cerebral Cavernous Malformation Proteins. ( 30453164 )
2018
45
The cerebral cavernous malformation disease causing gene KRIT1 participates in intestinal epithelial barrier maintenance and regulation. ( 30252535 )
2018
46
Intensive, functional training leads to optimal outcomes in a young woman post brain stem hemorrhage due to cerebral cavernous malformation. ( 29979899 )
2018
47
A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation. ( 29887830 )
2018
48
Plasma Biomarkers of Inflammation and Angiogenesis Predict Cerebral Cavernous Malformation Symptomatic Hemorrhage or Lesional Growth. ( 29720384 )
2018
49
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
50
Letter to the Editor Regarding "Long-Term Outcomes of Surgical Treatment in 181 Patients with Supratentorial Cerebral Cavernous Malformation-Associated Epilepsy". ( 29499589 )
2018

Variations for Cerebral Cavernous Malformations

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

76
# 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 NM_194456.1(KRIT1): c.1730+3A> C single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 7, 92214608: 92214608
2 KRIT1 NM_194456.1(KRIT1): c.1730+3A> C single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 7, 91843922: 91843922
3 KRIT1 NM_194456.1(KRIT1): c.2152G> A (p.Val718Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 92200795: 92200795
4 KRIT1 NM_194456.1(KRIT1): c.2152G> A (p.Val718Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 91830109: 91830109
5 KRIT1 NM_194456.1(KRIT1): c.482A> G (p.Asp161Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 92236416: 92236416
6 KRIT1 NM_194456.1(KRIT1): c.482A> G (p.Asp161Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 91865730: 91865730
7 KRIT1 NM_194456.1(KRIT1): c.1204_1208delAACAA (p.Asn402Leufs) deletion Pathogenic GRCh37 Chromosome 7, 91855080: 91855084
8 KRIT1 NM_194456.1(KRIT1): c.1204_1208delAACAA (p.Asn402Leufs) deletion Pathogenic GRCh38 Chromosome 7, 92225766: 92225770
9 KRIT1 NM_194456.1(KRIT1): c.729+5G> C single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 91864712: 91864712
10 KRIT1 NM_194456.1(KRIT1): c.729+5G> C single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 92235398: 92235398
11 KRIT1 NM_194456.1(KRIT1): c.1373delA (p.Gln458Argfs) deletion Pathogenic GRCh37 Chromosome 7, 91852174: 91852174
12 KRIT1 NM_194456.1(KRIT1): c.1373delA (p.Gln458Argfs) deletion Pathogenic GRCh38 Chromosome 7, 92222860: 92222860
13 KRIT1 NM_194456.1(KRIT1): c.1437_1438delAC (p.Lys479Asnfs) deletion Pathogenic GRCh38 Chromosome 7, 92222027: 92222028
14 KRIT1 NM_194456.1(KRIT1): c.1437_1438delAC (p.Lys479Asnfs) deletion Pathogenic GRCh37 Chromosome 7, 91851341: 91851342
15 KRIT1 NC_000007.14: g.(?_92200604)_(92242155_?)del deletion Pathogenic GRCh37 Chromosome 7, 91829918: 91871469
16 KRIT1 NC_000007.14: g.(?_92200604)_(92242155_?)del deletion Pathogenic GRCh38 Chromosome 7, 92200604: 92242155
17 KRIT1 NM_194456.1(KRIT1): c.896delG (p.Gly299Glufs) deletion Likely pathogenic GRCh37 Chromosome 7, 91863856: 91863856
18 KRIT1 NM_194456.1(KRIT1): c.896delG (p.Gly299Glufs) deletion Likely pathogenic GRCh38 Chromosome 7, 92234542: 92234542
19 KRIT1 NM_194456.1(KRIT1): c.730-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs1554527922 GRCh38 Chromosome 7, 92234924: 92234924
20 KRIT1 NM_194456.1(KRIT1): c.730-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs1554527922 GRCh37 Chromosome 7, 91864238: 91864238
21 KRIT1 NM_194456.1(KRIT1): c.976_979dup (p.Tyr327Serfs) duplication Pathogenic rs1326827713 GRCh38 Chromosome 7, 92234459: 92234462
22 KRIT1 NM_194456.1(KRIT1): c.976_979dup (p.Tyr327Serfs) duplication Pathogenic rs1326827713 GRCh37 Chromosome 7, 91863773: 91863776
23 KRIT1 NC_000007.14: g.(?_92225700)_(92226702_?)del deletion Pathogenic GRCh37 Chromosome 7, 91855014: 91856016
24 KRIT1 NC_000007.14: g.(?_92225700)_(92226702_?)del deletion Pathogenic GRCh38 Chromosome 7, 92225700: 92226702
25 KRIT1 NM_194456.1(KRIT1): c.196C> T (p.Gln66Ter) single nucleotide variant Pathogenic rs771656368 GRCh37 Chromosome 7, 91870373: 91870373
26 KRIT1 NM_194456.1(KRIT1): c.196C> T (p.Gln66Ter) single nucleotide variant Pathogenic rs771656368 GRCh38 Chromosome 7, 92241059: 92241059
27 KRIT1 NM_194456.1(KRIT1): c.2119_2120delAG (p.Ser707Leufs) deletion Pathogenic rs1554490317 GRCh37 Chromosome 7, 91830643: 91830644
28 KRIT1 NM_194456.1(KRIT1): c.2119_2120delAG (p.Ser707Leufs) deletion Pathogenic rs1554490317 GRCh38 Chromosome 7, 92201329: 92201330
29 KRIT1 NM_194456.1(KRIT1): c.451A> G (p.Thr151Ala) single nucleotide variant Uncertain significance rs774330517 GRCh38 Chromosome 7, 92236447: 92236447
30 KRIT1 NM_194456.1(KRIT1): c.451A> G (p.Thr151Ala) single nucleotide variant Uncertain significance rs774330517 GRCh37 Chromosome 7, 91865761: 91865761
31 KRIT1 NM_194456.1(KRIT1): c.1134A> T (p.Pro378=) single nucleotide variant Likely benign rs752464613 GRCh37 Chromosome 7, 91855852: 91855852
32 KRIT1 NM_194456.1(KRIT1): c.1255-1_1256delGTA deletion Pathogenic rs1554514380 GRCh38 Chromosome 7, 92222977: 92222979
33 KRIT1 NM_194456.1(KRIT1): c.1255-1_1256delGTA deletion Pathogenic rs1554514380 GRCh37 Chromosome 7, 91852291: 91852293
34 KRIT1 NM_194456.1(KRIT1): c.1412-1G> T single nucleotide variant Pathogenic rs1554513070 GRCh38 Chromosome 7, 92222054: 92222054
35 KRIT1 NM_194456.1(KRIT1): c.1412-1G> T single nucleotide variant Pathogenic rs1554513070 GRCh37 Chromosome 7, 91851368: 91851368
36 KRIT1 NM_194456.1(KRIT1): c.1545delC (p.Leu516Trpfs) deletion Pathogenic rs1554512658 GRCh38 Chromosome 7, 92221920: 92221920
37 KRIT1 NM_194456.1(KRIT1): c.1545delC (p.Leu516Trpfs) deletion Pathogenic rs1554512658 GRCh37 Chromosome 7, 91851234: 91851234
38 KRIT1 NM_194456.1(KRIT1): c.1683_1695delAGTCTATGGAAAT (p.Val562Metfs) deletion Pathogenic rs1554504519 GRCh38 Chromosome 7, 92214646: 92214658
39 KRIT1 NM_194456.1(KRIT1): c.1683_1695delAGTCTATGGAAAT (p.Val562Metfs) deletion Pathogenic rs1554504519 GRCh37 Chromosome 7, 91843960: 91843972
40 KRIT1 NM_194456.1(KRIT1): c.1134A> T (p.Pro378=) single nucleotide variant Likely benign rs752464613 GRCh38 Chromosome 7, 92226538: 92226538
41 KRIT1 NM_194456.1(KRIT1): c.730-2A> G single nucleotide variant Pathogenic rs1554527925 GRCh37 Chromosome 7, 91864239: 91864239
42 KRIT1 NM_194456.1(KRIT1): c.730-2A> G single nucleotide variant Pathogenic rs1554527925 GRCh38 Chromosome 7, 92234925: 92234925
43 KRIT1 NM_194456.1(KRIT1): c.782C> G (p.Ser261Ter) single nucleotide variant Pathogenic rs1554527817 GRCh37 Chromosome 7, 91864185: 91864185
44 KRIT1 NM_194456.1(KRIT1): c.782C> G (p.Ser261Ter) single nucleotide variant Pathogenic rs1554527817 GRCh38 Chromosome 7, 92234871: 92234871
45 KRIT1 NM_194456.1(KRIT1): c.1201C> T (p.Gln401Ter) single nucleotide variant Pathogenic rs1331502949 GRCh38 Chromosome 7, 92225773: 92225773
46 KRIT1 NM_194456.1(KRIT1): c.1201C> T (p.Gln401Ter) single nucleotide variant Pathogenic rs1331502949 GRCh37 Chromosome 7, 91855087: 91855087
47 KRIT1 NM_194456.1(KRIT1): c.1362_1363delTC (p.Gln455Argfs) deletion Pathogenic rs1180476377 GRCh38 Chromosome 7, 92222870: 92222871
48 KRIT1 NM_194456.1(KRIT1): c.1362_1363delTC (p.Gln455Argfs) deletion Pathogenic rs1180476377 GRCh37 Chromosome 7, 91852184: 91852185
49 KRIT1 NM_194456.1(KRIT1): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs1554539120 GRCh37 Chromosome 7, 91871449: 91871449
50 KRIT1 NM_194456.1(KRIT1): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs1554539120 GRCh38 Chromosome 7, 92242135: 92242135

Expression for Cerebral Cavernous Malformations

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

Pathways for Cerebral Cavernous Malformations

GO Terms for Cerebral Cavernous Malformations

Cellular components related to Cerebral Cavernous Malformations according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.28 CCM2 CDKN3 ITGB1BP1 KDR KRIT1 MAP3K3

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.83 ITGB1BP1 KDR PDCD10 PTEN
2 negative regulation of gene expression GO:0010629 9.77 DLL4 KDR PDCD10
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.76 KDR PTEN RAP1A
4 negative regulation of cell proliferation GO:0008285 9.76 CDKN3 DLL4 ITGB1BP1 PTEN
5 positive regulation of endothelial cell migration GO:0010595 9.61 ITGB1BP1 KDR
6 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.6 CDKN3 PTEN
7 positive regulation of cell migration involved in sprouting angiogenesis GO:0090050 9.58 KDR MAP3K3
8 protein kinase B signaling GO:0043491 9.57 KDR PTEN
9 cellular response to nerve growth factor stimulus GO:1990090 9.56 PTEN RAP1A
10 negative regulation of endothelial cell apoptotic process GO:2000352 9.55 KDR KRIT1
11 cellular response to fibroblast growth factor stimulus GO:0044344 9.54 DLL4 ITGB1BP1
12 negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903588 9.51 DLL4 PDCD10
13 positive regulation of focal adhesion assembly GO:0051894 9.49 ITGB1BP1 KDR
14 negative regulation of endothelial cell migration GO:0010596 9.48 DLL4 KRIT1
15 negative regulation of focal adhesion assembly GO:0051895 9.43 ITGB1BP1 PTEN
16 positive regulation of Notch signaling pathway GO:0045747 9.43 DLL4 ITGB1BP1 PDCD10
17 ventricular trabecula myocardium morphogenesis GO:0003222 9.4 CCM2L DLL4
18 positive regulation of vasculogenesis GO:2001214 9.37 KDR RAP1A
19 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.33 DLL4 ITGB1BP1 PDCD10
20 cardiac atrium morphogenesis GO:0003209 9.32 CCM2L DLL4
21 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.13 DLL4 ITGB1BP1 KDR
22 angiogenesis GO:0001525 9.02 DLL4 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
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