CCM
MCID: CRB048
MIFTS: 63

Cerebral Cavernous Malformations (CCM)

Categories: Cardiovascular diseases, Fetal 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 74 54 39
Cerebral Cavernous Malformation 12 74 20 43 53 36 29 6 15
Cerebral Cavernous Malformations 1 73 29 6 71
Cavernous Angioma 20 43 53 6
Cavernous Malformations of Cns and Retina 57 13 6
Cavernous Angiomatous Malformations 57 12 73
Cerebral Capillary Malformations 57 12 73
Ccm 57 20 43
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations 57 6
Hemangioma, Cavernous, Central Nervous System 44 17
Familial Cerebral Cavernous Malformation 43 71
Cerebral Cavernous Malformation 1 12 15
Cerebral Cavernous Hemangioma 20 43
Familial Cavernous Angioma 12 73
Cavernoma 20 43
Central Nervous System Cavernous Hemangioma 43
Cavernous Angiomatous Malformations; Cam 57
Cerebral Cavernous Malformations, Type 1 39
Familial Cerebral Cavernous Angioma 43
Cerebral Cavernous Malformations-1 57
Intracerebral Cavernous Hemangioma 43
Cavernous Hemangioma of the Brain 73
Familial Cavernous Malformation 43
Familial Cavernous Hemangioma 43
Cavernous Angioma, Familial 57
Hemangioma, Cavernous 71
Cerebral Cavernoma 73
Angioma, Cavernous 71
Ccm1 73
Cam 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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 )

Inheritance:
autosomal dominant


HPO:

31
cerebral cavernous malformations:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060669 DOID:0080491
OMIM® 57 116860
KEGG 36 H00534
MeSH 44 D020786
UMLS 71 C0018920 C1366911 C1959589 more

Summaries for Cerebral Cavernous Malformations

MedlinePlus Genetics : 43 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).Approximately 25 percent of individuals with cerebral cavernous malformations never experience any related health problems. Other people with this condition may experience serious signs and symptoms such as headaches, seizures, paralysis, hearing or vision loss, and bleeding in the brain (cerebral hemorrhage). Severe brain hemorrhages can result in death. The location and number of cerebral cavernous malformations determine the severity of this disorder. These malformations can change in size and number over time.There are two forms of the condition: familial and sporadic. The familial form is passed from parent to child, and affected individuals typically have multiple cerebral cavernous malformations. The sporadic form occurs in people with no family history of the disorder. These individuals typically have only one malformation.

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 Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Angiogenesis (CST). The drugs Atorvastatin and Propranolol have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and endothelial, and related phenotypes are cerebral calcification and intracranial hemorrhage

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

GARD : 20 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.

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) (Updated 05-Mar-2021)

NINDS : 53 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).

KEGG : 36 Cerebral cavernous malformations (CCM) are vascular malformations of the central nervous system comprising enlarged caverns with a single layer of endothelium, which easily lead to cerebral hemorrhages. The disease present as either sporadic or autosomal dominant conditions and is linked to three genes KRIT1, MGC4607, and PDCD10. Mutations in KRIT1 impair its interaction with ICAP-1 alpha, and influence beta 1 integrin-dependent angiogenesis.

UniProtKB/Swiss-Prot : 73 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 : 74 Cavernous hemangioma, also called cavernous angioma, cavernoma, or cerebral cavernoma (CCM) (when... 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 787)
# Related Disease Score Top Affiliating Genes
1 cerebral cavernous malformations 3 33.1 STK25 STK24 SERPINI1 PDCD10 KRIT1 CCM2
2 cerebral cavernous malformations 2 32.7 STK25 RAP2A RAP1B PDCD10 MAP3K3 KRIT1
3 cavernous malformation 32.4 STK25 PDCD10 KRIT1 ITGB1BP1 CCM2L CCM2
4 venous malformations, multiple cutaneous and mucosal 32.3 PDCD10 KRIT1 CCM2
5 cavernous hemangioma 32.2 PECAM1 PDCD10 KRIT1 KDR CCM2
6 intracranial cavernous angioma 32.0 PDCD10 KRIT1 CCM2
7 cerebral cavernous malformation, familial 31.6 PDCD10 MIR1285-1 KRIT1 CCM2
8 cerebrocostomandibular syndrome 31.4 STK25 STK24 RAP2A RAP1B PDCD10 MAP3K3
9 hemangioma 30.8 PTEN PECAM1 KRIT1 KDR CCM2
10 cerebral angioma 30.5 PDCD10 KRIT1 CCM2
11 arteriovenous malformations of the brain 30.3 PECAM1 PDCD10 KDR
12 klippel-trenaunay-weber syndrome 30.0 PDCD10 MAP3K3 KRIT1 CCM2
13 exudative vitreoretinopathy 1 29.6 PECAM1 KDR DLL4
14 cataract 5, multiple types 11.4
15 sengers syndrome 11.2
16 congenital vascular cavernous malformations 11.2
17 familial hemangioma 11.2
18 vascular erectile tumor 11.2
19 cavernous hemangioma of orbit 11.2
20 dermal unilateral segmental cavernous angioma 11.2
21 masa syndrome 11.0
22 hair whorl 10.9
23 hemangioma, capillary infantile 10.9
24 cerebrofacial arteriovenous metameric syndrome 10.7
25 subacute delirium 10.6
26 epilepsy 10.5
27 cerebrovascular disease 10.4
28 portal hypertension 10.4
29 intracranial structure hemangioma 10.4 PDCD10 KRIT1 CCM2
30 portal vein thrombosis 10.4
31 pulmonary vein stenosis 10.4 PECAM1 KDR
32 arteriovenous malformation 10.3
33 breast angiosarcoma 10.3 PECAM1 KDR
34 kaposiform hemangioendothelioma 10.3 PECAM1 KDR
35 hemangioma of orbit 10.3
36 radiation proctitis 10.3 PECAM1 KDR
37 varicose veins 10.3
38 myasthenic syndrome, congenital, 1b, fast-channel 10.3
39 vascular disease 10.3
40 seizure disorder 10.3
41 brain angioma 10.3 PDCD10 KRIT1 ITGB1BP1 HEG1 CCM2
42 neuroblastoma 10.3
43 measles 10.3
44 angiokeratoma circumscriptum 10.3 PECAM1 KDR
45 cardiovascular organ benign neoplasm 10.3 PTEN PECAM1 KDR
46 hemangioma of liver 10.2 ZPLD1 PDCD10 KRIT1 HEG1 CCM2L CCM2
47 hemorrhagic disease 10.2 PECAM1 PDCD10 KRIT1 ITGB1BP1 CCM2
48 suppression amblyopia 10.2
49 amblyopia 10.2
50 back pain 10.2

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:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 cerebral calcification 31 HP:0002514
2 intracranial hemorrhage 31 HP:0002170
3 headache 31 HP:0002315
4 abnormality of the skin 31 HP:0000951
5 abnormality of the musculature 31 HP:0003011
6 retinal vascular malformation 31 HP:0007797
7 seizure 31 HP:0001250
8 hepatic vascular malformations 31 HP:0006576

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
intracranial hemorrhage
headache
intracranial thin-walled sinusoidal vessel (cavernous) malformations
focal neurologic deficits
more
Head And Neck Eyes:
retinal vascular malformations

Muscle Soft Tissue:
soft tissue vascular malformations

Abdomen Liver:
hepatic vascular malformations

Skin Nails Hair Skin:
hyperkeratotic cutaneous vascular lesions

Clinical features from OMIM®:

116860 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Cerebral Cavernous Malformations:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.27 CCM2 CCM2L DLL4 HEG1 KDR KLF2
2 mortality/aging MP:0010768 10.13 CCM2 CCM2L DLL4 HEG1 ITGB1BP1 KDR
3 hematopoietic system MP:0005397 10.11 CCM2 DLL4 KDR KLF2 KLF4 MAP3K3
4 embryo MP:0005380 10.06 CCM2 DLL4 HEG1 KDR KLF2 KRIT1
5 immune system MP:0005387 10.06 CCM2 DLL4 HEG1 KDR KLF2 KLF4
6 craniofacial MP:0005382 9.98 CCM2 HEG1 ITGB1BP1 KDR KLF2 KLF4
7 muscle MP:0005369 9.9 CCM2 CCM2L DLL4 HEG1 KDR KLF2
8 normal MP:0002873 9.61 CCM2 CCM2L DLL4 ITGB1BP1 KDR KLF2
9 vision/eye MP:0005391 9.28 CCM2 DLL4 ITGB1BP1 KDR KLF4 KRIT1

Drugs & Therapeutics for Cerebral Cavernous Malformations

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

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atorvastatin Approved Phase 1, Phase 2 134523-00-5 60823
2
Propranolol Approved, Investigational Phase 2 525-66-6 4946
3 Lipid Regulating Agents Phase 1, Phase 2
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
5 Hypolipidemic Agents Phase 1, Phase 2
6 Antimetabolites Phase 1, Phase 2
7 Anticholesteremic Agents Phase 1, Phase 2
8 Adrenergic beta-Antagonists Phase 2
9 Adrenergic Antagonists Phase 2
10 Antihypertensive Agents Phase 2
11 Neurotransmitter Agents Phase 2
12 Adrenergic Agents Phase 2
13 Vasodilator Agents Phase 2
14 Anti-Arrhythmia Agents Phase 2
15
Doxycycline Approved, Investigational, Vet_approved Phase 1 564-25-0 54671203
16 Anti-Infective Agents Phase 1
17 Anti-Bacterial Agents Phase 1
18 Antiprotozoal Agents Phase 1
19 Antiparasitic Agents Phase 1
20 Antimalarials Phase 1
21
Simvastatin Approved Early Phase 1 79902-63-9 54454
22 Liver Extracts
23 Anticonvulsants
24 Analgesics

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Phase I-II Randomized, Placebo-Controlled, Single-Blinded, Single-Site Clinical Trial of Atorvastatin in the Treatment of Cavernous Angiomas With Symptomatic Hemorrhage Exploratory Proof of Concept (AT CASH EPOC) Recruiting NCT02603328 Phase 1, Phase 2 Atorvastatin
2 Treat_CCM Clinical Trial A Multicenter Randomized Clinical Trial on Propranolol in Cerebral Cavernous Malformation Recruiting NCT03589014 Phase 2 Propranolol
3 Effect of Oral Propranolol on mRNA Expression in Symptomatice Caavernous Malformation Active, not recruiting NCT03474614 Phase 2 Propranolol
4 Oral Propanolol for Surgically Inaccessible Cerebral and Spinal Cavernous Malformations Unknown status NCT03523650 Phase 1 Propranolol Oral Tablet;Placebo Oral Tablet
5 Influence of Matrix Metalloproteinase on Brain Arteriovenous Malformation Hemorrhage Completed NCT00783523 Phase 1 Doxycycline or Placebo
6 A Prospective Study on the Incidence and Related Risk Factors of Infantile Hemangioma in China Unknown status NCT03173352
7 Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of Statins Completed NCT01764451 Early Phase 1 Simvastatin
8 A Prospective Controlled Study on Treatment of Giant Cavernous Hemangiomas of the Liver:RFA Versus Laparoscopic Hepatectomy. Completed NCT01471080
9 Modifiers of Disease Severity and Progression in Cerebral Cavernous Malformations Recruiting NCT01764529
10 Biomarkers of Cerebral Cavernous Angioma With Symptomatic Hemorrhage (CASH) Recruiting NCT04467489
11 Quantitative Susceptibility Mapping Biomarker, Brain Structure and Connectome Associated With Cerebral Cavernous Malformation Related Epilepsy and Outcome After Surgery Recruiting NCT04076449
12 Treatments and Outcomes of Untreated Cerebral Cavernous Malformations in CHINA (TOUCH): A Nationwide Multicenter Prospective Cohort Study. Recruiting NCT03467295
13 A Prospective Study for the Natural History and the Risk Factors of Prospective Symptomatic Hemorrhage in Adult Patients With Cerebral Cavernous Malformation Recruiting NCT02946866
14 CASH (Cavernous Angiomas With Symptomatic Hemorrhage) Trial Readiness Recruiting NCT03652181
15 Pattern and Management of Intracranial Cavernoma Not yet recruiting NCT04181086
16 Characteristic of Patients With Gastroesophageal Varices and Portal Cavernoma Not yet recruiting NCT04525768

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:

40
Brain, Spinal Cord, Endothelial, Retina, Smooth Muscle, Liver, Temporal Lobe

Publications for Cerebral Cavernous Malformations

Articles related to Cerebral Cavernous Malformations:

(show top 50) (show all 907)
# Title Authors PMID Year
1
Cerebral cavernous malformations: mutations in Krit1. 61 54 57 6
11914398 2002
2
CCM1 gene mutations in families segregating cerebral cavernous malformations. 61 57 54 6
11222804 2001
3
Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1). 6 57 54 61
10545614 1999
4
C329X in KRIT1 is a founder mutation among CCM patients in Sardinia. 61 57 6
19454328 2009
5
Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation. 57 6 61
17562932 2007
6
Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. 57 6 61
10508515 1999
7
Cerebral cavernous malformations. Incidence and familial occurrence. 57 6 61
3393196 1988
8
KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation. 6 57
10814716 2000
9
A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells. 61 54 57
19088124 2009
10
CCM1 mutation screen of sporadic cases with cerebral cavernous malformations. 61 57 54
15079030 2004
11
Clinical features of cerebral cavernous malformations patients with KRIT1 mutations. 54 57 61
14755725 2004
12
Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations. 57 61 54
12404106 2002
13
Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation. 61 54 6
11941540 2002
14
Germline mutations in the CCM1 gene, encoding Krit1, cause cerebral cavernous malformations. 6 61 54
11310633 2001
15
Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene. 57 54 61
11161805 2001
16
Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig. 57 61 54
8750196 1995
17
Endothelial TLR4 and the microbiome drive cerebral cavernous malformations. 57 61
28489816 2017
18
Cerebral cavernous malformations arise from endothelial gain of MEKK3-KLF2/4 signalling. 57 61
27027284 2016
19
EndMT contributes to the onset and progression of cerebral cavernous malformations. 61 57
23748444 2013
20
Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis. 57 61
19088123 2009
21
Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts. 57 61
18060436 2008
22
Large germline deletions and duplication in isolated cerebral cavernous malformation patients. 57 61
17211633 2007
23
Genotype-phenotype correlations in cerebral cavernous malformations patients. 57 61
17041941 2006
24
Cerebral cavernous malformation: new molecular and clinical insights. 61 57
16571644 2006
25
Value of gradient-echo magnetic resonance imaging in the diagnosis of familial cerebral cavernous malformation. 57 61
15824268 2005
26
Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. 57 61
9811928 1998
27
A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans. 61 57
8596595 1996
28
A locus for cerebral cavernous malformations maps to chromosome 7q in two families. 61 57
8530042 1995
29
Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. 57 61
7604043 1995
30
Novel CCM1 mutation in a patient with paraparesis and thoracic cord cavernous malformation. 57
16186553 2005
31
A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas. 6
11831930 2002
32
Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families. 57
10352941 1999
33
An association between autosomal dominant cerebral cavernomas and a distinctive hyperkeratotic cutaneous vascular malformation in 4 families. 57
9989629 1999
34
Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families. Société Française de Neurochirurgie. 57
9863787 1998
35
Cutaneous and cerebral haemangiomas associated with eruptive angiokeratomas. 57
8776368 1996
36
A gene responsible for cavernous malformations of the brain maps to chromosome 7q. 57
7795602 1995
37
Familial cerebral cavernous angiomas: clinical and radiologic studies. 6
7898703 1995
38
Familial cerebral, hepatic, and retinal cavernous angiomas: a new syndrome. 57
7923228 1994
39
Cavernous angiomatosis of the central nervous system: usefulness of screening the family. 57
8256569 1993
40
Familial cavernous angiomas of the brain: observations in a four generation family. 57
1468464 1992
41
Terminal transverse limb defects associated with familial cavernous angiomatosis. 57
1536177 1992
42
Scrotal cavernous haemangioma with a family history of cutaneous angiomata. 57
2380971 1990
43
Familial cavernous angiomas manifesting with an acute chiasmal syndrome. 57
2774032 1989
44
Familial cavernous angioma of the brain stem dominantly inherited in Hispanics. 57
2927584 1989
45
Familial cavernous angiomas of the brain in an Hispanic family. 57
3340304 1988
46
Familial cavernous malformations of the central nervous system and retina. 57
3606045 1987
47
Familial cavernous angiomas: natural history and genetic study over a 5-year period. 57
6950664 1982
48
Familial cavernous angiomas. 57
718473 1978
49
Familial occurrence of cavernous angiomata of the brain. 57
5531907 1970
50
CARDIAC FAILURE DUE TO ENDOCRINE DEPENDENT HEMANGIOMAS. 57
14122111 1964

Variations for Cerebral Cavernous Malformations

ClinVar genetic disease variations for Cerebral Cavernous Malformations:

6 (show top 50) (show all 217)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KRIT1 KRIT1, 1283C-T SNV Pathogenic 5718
2 KRIT1 KRIT1, 1-BP DEL, 1342A Deletion Pathogenic 5719
3 KRIT1 KRIT1, 1-BP INS, 1271C Insertion Pathogenic 5720
4 KRIT1 KRIT1, 1-BP DEL, 103G Deletion Pathogenic 5722
5 KRIT1 KRIT1, IVS2DS, T-C, +2 SNV Pathogenic 5723
6 KRIT1 KRIT1, 2-BP DEL, 741TC Deletion Pathogenic 5724
7 KRIT1 KRIT1, 1-BP INS, 1374C Insertion Pathogenic 5727
8 KRIT1 NM_194456.1(KRIT1):c.410A>G (p.Asp137Gly) SNV Pathogenic 5725 rs137853139 7:91865802-91865802 7:92236488-92236488
9 KRIT1 NM_194456.1(KRIT1):c.601C>G (p.Gln201Glu) SNV Pathogenic 5726 rs137853140 7:91864845-91864845 7:92235531-92235531
10 KRIT1 NM_194456.1(KRIT1):c.782C>G (p.Ser261Ter) SNV Pathogenic 468219 rs1554527817 7:91864185-91864185 7:92234871-92234871
11 KRIT1 NC_000007.13:g.(?_91863763)_(91871451_?)del Deletion Pathogenic 468201 7:91863763-91871451
12 KRIT1 NM_194456.1(KRIT1):c.990G>A (p.Trp330Ter) SNV Pathogenic 468221 rs1554518783 7:91855996-91855996 7:92226682-92226682
13 KRIT1 NM_194456.1(KRIT1):c.812G>A (p.Trp271Ter) SNV Pathogenic 468220 rs1554527779 7:91864155-91864155 7:92234841-92234841
14 KRIT1 NM_194456.1(KRIT1):c.1683_1695del (p.Val562fs) Deletion Pathogenic 468211 rs1554504519 7:91843960-91843972 7:92214646-92214658
15 KRIT1 NM_194456.1(KRIT1):c.1417C>T (p.Gln473Ter) SNV Pathogenic 468209 rs1554513061 7:91851362-91851362 7:92222048-92222048
16 KRIT1 NM_194456.1(KRIT1):c.729+2T>C SNV Pathogenic 427906 rs1554528541 7:91864715-91864715 7:92235401-92235401
17 KRIT1 NM_194456.1(KRIT1):c.2119_2120del (p.Ser707fs) Deletion Pathogenic 522190 rs1554490317 7:91830643-91830644 7:92201329-92201330
18 KRIT1 NM_194456.1(KRIT1):c.196C>T (p.Gln66Ter) SNV Pathogenic 522191 rs771656368 7:91870373-91870373 7:92241059-92241059
19 KRIT1 NM_194456.1(KRIT1):c.1201C>T (p.Gln401Ter) SNV Pathogenic 468205 rs1331502949 7:91855087-91855087 7:92225773-92225773
20 KRIT1 NM_194456.1(KRIT1):c.1412-1G>T SNV Pathogenic 468208 rs1554513070 7:91851368-91851368 7:92222054-92222054
21 KRIT1 NC_000007.14:g.(?_92234429)_(92234943_?)del Deletion Pathogenic 832611 7:91863743-91864257
22 KRIT1 NM_194456.1(KRIT1):c.1545del (p.Leu516fs) Deletion Pathogenic 468210 rs1554512658 7:91851234-91851234 7:92221920-92221920
23 KRIT1 NM_194456.1(KRIT1):c.1084del (p.Ala362fs) Deletion Pathogenic 447673 rs1554518541 7:91855902-91855902 7:92226588-92226588
24 KRIT1 NM_194456.1(KRIT1):c.1342del (p.Met448fs) Deletion Pathogenic 649953 rs1584881309 7:91852205-91852205 7:92222891-92222891
25 KRIT1 NM_194456.1(KRIT1):c.747_750del (p.Asn250fs) Deletion Pathogenic 653169 rs1584976350 7:91864217-91864220 7:92234903-92234906
26 KRIT1 NM_194456.1(KRIT1):c.1558A>T (p.Lys520Ter) SNV Pathogenic 653656 rs1584873058 7:91851221-91851221 7:92221907-92221907
27 KRIT1 NM_194456.1(KRIT1):c.2143-1G>A SNV Pathogenic 468214 rs1554489785 7:91830119-91830119 7:92200805-92200805
28 KRIT1 NM_194454.3(KRIT1):c.859del (p.Trp286_Val287insTer) Deletion Pathogenic 941887 7:91863893-91863893 7:92234579-92234579
29 KRIT1 NM_194454.3(KRIT1):c.1371_1372del (p.Gln458fs) Deletion Pathogenic 942171 7:91852175-91852176 7:92222861-92222862
30 KRIT1 NM_194454.3(KRIT1):c.570_583del (p.Ile191fs) Deletion Pathogenic 942206 7:91864863-91864876 7:92235549-92235562
31 KRIT1 NM_194454.3(KRIT1):c.2081del (p.Asp694fs) Deletion Pathogenic 956530 7:91830682-91830682 7:92201368-92201368
32 KRIT1 NM_194454.3(KRIT1):c.2024del (p.Lys675fs) Deletion Pathogenic 969557 7:91842510-91842510 7:92213196-92213196
33 KRIT1 NM_194454.3(KRIT1):c.1819-1G>A SNV Pathogenic 971024 7:91842716-91842716 7:92213402-92213402
34 KRIT1 NM_194456.1(KRIT1):c.730-2A>G SNV Pathogenic 468218 rs1554527925 7:91864239-91864239 7:92234925-92234925
35 KRIT1 NM_194456.1(KRIT1):c.1373del (p.Gln458fs) Deletion Pathogenic 580059 rs1563266147 7:91852174-91852174 7:92222860-92222860
36 KRIT1 NM_194456.1(KRIT1):c.1144dup (p.Arg382fs) Duplication Pathogenic 427907 rs1554518386 7:91855841-91855842 7:92226527-92226528
37 KRIT1 NM_194456.1(KRIT1):c.972_975CATT[3] (p.Tyr327fs) Microsatellite Pathogenic 536121 rs1326827713 7:91863772-91863773 7:92234458-92234459
38 KRIT1 NM_194456.1(KRIT1):c.810dup (p.Trp271fs) Duplication Pathogenic 654640 rs1584975743 7:91864156-91864157 7:92234842-92234843
39 KRIT1 NM_194456.1(KRIT1):c.659dup (p.Leu220fs) Duplication Pathogenic 660376 rs1584981589 7:91864786-91864787 7:92235472-92235473
40 KRIT1 NM_194456.1(KRIT1):c.1742_1748dup (p.Ile584fs) Duplication Pathogenic 663252 rs1584800138 7:91843275-91843276 7:92213961-92213962
41 KRIT1 NM_194456.1(KRIT1):c.937dup (p.Ser313fs) Duplication Pathogenic 503945 rs1554527032 7:91863814-91863815 7:92234500-92234501
42 KRIT1 NM_194454.3(KRIT1):c.1281_1282dup (p.Asp428fs) Duplication Pathogenic 936632 7:91852264-91852265 7:92222950-92222951
43 KRIT1 NM_194454.3(KRIT1):c.208dup (p.Asp70fs) Duplication Pathogenic 944419 7:91870360-91870361 7:92241046-92241047
44 KRIT1 NM_194454.3(KRIT1):c.1107_1109delinsCA (p.Glu369fs) Indel Pathogenic 968653 7:91855877-91855879 7:92226563-92226565
45 KRIT1 NM_194456.1(KRIT1):c.1255-1_1256del Microsatellite Pathogenic 468206 rs1554514380 7:91852291-91852293 7:92222977-92222979
46 KRIT1 NM_194456.1(KRIT1):c.1437_1438del (p.Lys479fs) Deletion Pathogenic 576708 rs1563263905 7:91851341-91851342 7:92222027-92222028
47 KRIT1 NM_194456.1(KRIT1):c.730-1G>C SNV Pathogenic 536122 rs1554527922 7:91864238-91864238 7:92234924-92234924
48 KRIT1 NM_194456.1(KRIT1):c.1730+4_1730+7del Microsatellite Pathogenic 590717 rs1563244596 7:91843918-91843921 7:92214604-92214607
49 KRIT1 NM_194456.1(KRIT1):c.1412-2A>C SNV Pathogenic 590705 rs1563264113 7:91851369-91851369 7:92222055-92222055
50 KRIT1 NM_194456.1(KRIT1):c.729+1G>A SNV Pathogenic 590752 rs1563305064 7:91864716-91864716 7:92235402-92235402

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

73
# Symbol AA change Variation ID SNP ID
1 KRIT1 p.Phe97Ser VAR_023573
2 KRIT1 p.Lys569Glu VAR_023574

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 11.26 KLF4 KLF2 KDR
2 10.75 PECAM1 KDR DLL4

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 cell-cell junction GO:0005911 8.92 RAP1B PECAM1 KRIT1 HEG1

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.94 PDCD10 KLF4 KDR DLL4
2 protein autophosphorylation GO:0046777 9.78 STK25 STK24 MAP3K3 KDR
3 negative regulation of ERK1 and ERK2 cascade GO:0070373 9.77 PTEN KLF4 ITGB1BP1
4 multicellular organism growth GO:0035264 9.77 KLF2 HEG1 CCM2
5 negative regulation of cell migration GO:0030336 9.76 STK24 RAP2A PTEN KLF4
6 cellular response to organic cyclic compound GO:0071407 9.74 RAP1B KLF4 KLF2
7 vasculogenesis GO:0001570 9.72 KDR HEG1 CCM2
8 response to hydrogen peroxide GO:0042542 9.71 STK25 STK24 PDCD10
9 positive regulation of Notch signaling pathway GO:0045747 9.67 PDCD10 ITGB1BP1 DLL4
10 positive regulation of stress-activated MAPK cascade GO:0032874 9.65 STK25 PDCD10
11 regulation of establishment of cell polarity GO:2000114 9.65 RAP1B KRIT1
12 establishment of endothelial barrier GO:0061028 9.65 RAP1B PECAM1
13 negative regulation of focal adhesion assembly GO:0051895 9.64 PTEN ITGB1BP1
14 cellular response to peptide GO:1901653 9.63 KLF4 KLF2
15 microvillus assembly GO:0030033 9.63 RAP2A RAP1B
16 negative regulation of phosphatidylinositol 3-kinase signaling GO:0014067 9.62 PTEN KLF4
17 ventricular trabecula myocardium morphogenesis GO:0003222 9.62 HEG1 DLL4
18 positive regulation of protein metabolic process GO:0051247 9.61 KLF4 KLF2
19 Rap protein signal transduction GO:0032486 9.61 RAP2A RAP1B
20 cellular response to laminar fluid shear stress GO:0071499 9.58 KLF4 KLF2
21 pericardium development GO:0060039 9.58 HEG1 CCM2
22 establishment of Golgi localization GO:0051683 9.56 STK25 PDCD10
23 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.54 KDR ITGB1BP1 DLL4
24 venous blood vessel morphogenesis GO:0048845 9.52 HEG1 CCM2
25 cardiac atrium morphogenesis GO:0003209 9.51 HEG1 DLL4
26 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.46 PDCD10 KLF4 ITGB1BP1 DLL4
27 Golgi reassembly GO:0090168 9.43 STK25 PDCD10
28 angiogenesis GO:0001525 9.43 PTEN PDCD10 KRIT1 KDR ITGB1BP1 DLL4
29 endothelial cell development GO:0001885 9.4 HEG1 CCM2
30 cellular response to cycloheximide GO:0071409 9.32 KLF4 KLF2
31 intrinsic apoptotic signaling pathway in response to hydrogen peroxide GO:0036481 9.26 STK25 PDCD10
32 regulation of axon regeneration GO:0048679 8.8 STK24 PTEN KLF4

Sources for Cerebral Cavernous Malformations

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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