MCID: CRB103
MIFTS: 49

Cerebral Cavernous Malformations-1 malady

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

Aliases & Classifications for Cerebral Cavernous Malformations-1

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Aliases & Descriptions for Cerebral Cavernous Malformations-1:

Name: Cerebral Cavernous Malformations-1 52
Cerebral Cavernous Malformation 11 48 25 49 27
Cerebral Cavernous Malformations 1 70 27 68
Ccm 11 48 25
Cavernous Malformations of Cns and Retina 52 12
Familial Cerebral Cavernous Malformation 25 68
Cavernous Angiomatous Malformations 11 70
Cerebral Capillary Malformations 11 70
Cerebral Cavernous Hemangioma 48 25
Familial Cavernous Angioma 11 70
Cavernous Angioma 48 49
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations 52
Hemangioma, Cavernous, Central Nervous System 39
 
Central Nervous System Cavernous Hemangioma 25
Familial Cerebral Cavernous Angioma 25
Intracerebral Cavernous Hemangioma 25
Cavernous Hemangioma of the Brain 70
Cerebral Cavernous Malformations 50
Familial Cavernous Malformation 25
Familial Cavernous Hemangioma 25
Hemangioma, Cavernous 68
Angioma, Cavernous 68
Cerebral Cavernoma 70
Cavernoma 48
Ccm1 70

Characteristics:

HPO:

64
cerebral cavernous malformations-1:
Inheritance: autosomal dominant inheritance, heterogeneous
Onset and clinical course: incomplete penetrance

Classifications:



External Ids:

OMIM52 116860
Disease Ontology11 DOID:0060669
MeSH39 D020786

Summaries for Cerebral Cavernous Malformations-1

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NIH Rare Diseases:48 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. Last updated: 12/14/2015

MalaCards based summary: Cerebral Cavernous Malformations-1, also known as cerebral cavernous malformation, is related to cerebral cavernous malformations 3 and cerebral cavernous malformation, familial, and has symptoms including cavernous hemangioma, seizures and cerebral calcification. An important gene associated with Cerebral Cavernous Malformations-1 is KRIT1 (KRIT1, Ankyrin Repeat Containing), and among its related pathways is Angiogenesis (CST). Affiliated tissues include brain, spinal cord and retina, and related mouse phenotypes are embryo and integument.

Disease Ontology:11 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:52 Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the central nervous... (116860) more...

NINDS:49 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:70 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.

Related Diseases for Cerebral Cavernous Malformations-1

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Diseases in the Cerebral Cavernous Malformations-2 family:

Cerebral Cavernous Malformations 3 cerebral cavernous malformations-1
Cerebral Cavernous Malformation, Familial Familial Cerebral Cavernous Malformation 1
Familial Cerebral Cavernous Malformation 2 Familial Cerebral Cavernous Malformation 3
Familial Cerebral Cavernous Malformation 4

Diseases related to Cerebral Cavernous Malformations-1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral cavernous malformations 312.5
2cerebral cavernous malformation, familial12.3
3intracranial cavernous angioma12.1
4familial cerebral cavernous malformation 212.1
5familial cerebral cavernous malformation 312.1
6familial cerebral cavernous malformation 112.0
7familial cerebral cavernous malformation 412.0
8dermal unilateral segmental cavernous angioma11.9
9cerebral cavernous malformations-211.9
10cerebrocostomandibular syndrome11.6
11cavernous malformation11.5
12cavernous hemangioma11.5
13venous malformations, multiple cutaneous and mucosal11.0
14congenital vascular cavernous malformations11.0
15familial hemangioma11.0
16vascular erectile tumor11.0
17cerebritis10.2
18congenital cystic eye multiple ocular and intracranial anomalies9.9KDR, PECAM1
19pura syndrome9.9KDR, PECAM1
20epidermolysis bullosa9.9KDR, PECAM1
21hemangioma9.9
22charcot-marie-tooth neuropathy type 19.9CCM2, KRIT1, PDCD10
23greig cephalopolysyndactyly syndrome9.9CCM2, KRIT1, PDCD10
24benign ependymoma9.9CCM2, KRIT1, PDCD10
25miyoshi muscular dystrophy 29.9CCM2, KRIT1, PDCD10
26acute porphyria9.8KDR, PECAM1
27lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy9.8KDR, PECAM1
28giant cell glioblastoma9.7KDR, PTEN
29glioma susceptibility 29.7CDKN3, PTEN
30cowden syndrome 69.7CDKN3, PTEN
31hematopoietic stem cell transplantation9.6KDR, PTEN
32lipoma of the rectum9.6CDKN3, PTEN
33frontotemporal dementia and/or amyotrophic lateral sclerosis 49.5KDR, PTEN
34central cord syndrome9.5CCM2, KRIT1, PDCD10, PTEN
35retinitis pigmentosa 319.4CCM2, KRIT1, PDCD10, PTEN
36epilepsy, progressive myoclonic 3, with or without intracellular inclusions7.8CCM2, CDKN3, KDR, KRIT1, PDCD10, PECAM1

Graphical network of the top 20 diseases related to Cerebral Cavernous Malformations-1:



Diseases related to cerebral cavernous malformations-1

Symptoms & Phenotypes for Cerebral Cavernous Malformations-1

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Symptoms by clinical synopsis from OMIM:

116860

Clinical features from OMIM:

116860

Human phenotypes related to Cerebral Cavernous Malformations-1:

 64 (show all 16)
id Description HPO Frequency HPO Source Accession
1 cavernous hemangioma64 typical (50%) HP:0001048
2 seizures64 typical (50%) HP:0001250
3 cerebral calcification64 typical (50%) HP:0002514
4 hemiplegia/hemiparesis64 typical (50%) HP:0004374
5 abnormality of movement64 typical (50%) HP:0100022
6 arteriovenous malformation64 typical (50%) HP:0100026
7 abnormality of the cerebral vasculature64 typical (50%) HP:0100659
8 abnormality of the retinal vasculature64 occasional (7.5%) HP:0008046
9 upper limb phocomelia64 occasional (7.5%) HP:0009813
10 visceral angiomatosis64 occasional (7.5%) HP:0100761
11 abnormality of the skin64 HP:0000951
12 intracranial hemorrhage64 HP:0002170
13 headache64 HP:0002315
14 abnormality of the musculature64 HP:0003011
15 hepatic vascular malformations64 HP:0006576
16 retinal vascular malformation64 HP:0007797

MGI Mouse Phenotypes related to Cerebral Cavernous Malformations-1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.9CCM2, KDR, KRIT1, PDCD10, PTEN
2MP:00107718.9CCM2, KDR, KRIT1, PDCD10, PTEN
3MP:00053858.4CCM2, KDR, KRIT1, PDCD10, PECAM1, PTEN
4MP:00053698.3CCM2, KDR, KRIT1, PDCD10, PECAM1, PTEN
5MP:00053918.1CCM2, KDR, KRIT1, PDCD10, PTEN

Drugs & Therapeutics for Cerebral Cavernous Malformations-1

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Drugs for Cerebral Cavernous Malformations-1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Lipid Regulating AgentsPhase 1, Phase 2, Early Phase 12702
2Anticholesteremic AgentsPhase 1, Phase 2, Early Phase 11983
3Hypolipidemic AgentsPhase 1, Phase 2, Early Phase 12721
4Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 1, Phase 2, Early Phase 11956
5AntimetabolitesPhase 1, Phase 2, Early Phase 111774
6Atorvastatin CalciumPhase 1, Phase 2743134523-03-8
7Calcium, DietaryPhase 1, Phase 25525
8
Doxycyclineapproved, investigational, vet_approvedPhase 1237564-25-054671203
Synonyms:
(2E,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(4S,4aR,5S,5aR,6R,12aS)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
10597-92-9
17086-28-1 (mono-hydrate)
2-Naphthacenecarboxamide, 4-(dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-, (4S,4aR,5S,5aR,6R,12aS)
24390-14-5
41411-66-9 (6-epimer, mono-hydrochloride)
5-Hydroxy-alpha-6-deoxytetracycline
5-hydroxy-α-6-deoxytetracycline
564-25-0
6-Deoxyoxytetracycline
6-Deoxytetracycline
6-alpha-Deoxy-5-oxytetracycline
6-alpha-deoxy-5-oxytetracycline
69935-17-7 (mono-hydrochloride, di-hydrate)
6alpha-Deoxy-5-oxytetracycline
6alpha-deoxy-5-oxytetracycline
6α-deoxy-5-oxytetracycline
7164-70-7
7264-10-0
94088-85-4 (calcium salt (1:2))
AB08 (*Fosfatex)
AC1NQXW7
AC1NS4CW
AC1NUYS8
AC1O8PYM
Alti-Doxycycline
Anhydrous doxycycline
Apo-Doxy
Atridox
Azudoxat
BCBcMAP01_000024
BIDD:GT0146
BMY-28689
BPBio1_000951
BSPBio_000863
BSPBio_001936
BU-3839T
C06973
CHEBI:50845
CHEMBL1433
CID5281011
CID5353597
CID5463943
CID6713981
CPD001550033
D07876
DB00254
DMSC (*Fosfatex)
DOXCYCLINE ANHYDROUS
DOXY
DOXYCYCLINE CALCIUM
DOXYCYCLINE MONOHYDRATE
Deoxymykoin
DivK1c_000345
Dossiciclina
Dossiciclina [DCIT]
Doxcycline anhydrous
Doxiciclina
Doxiciclina [INN-Spanish]
Doxiciclina [Italian]
Doxitard
Doxivetin
Doxy-Caps
Doxy-Puren
Doxy-Tabs
Doxycen
Doxychel
Doxychel (TN)
Doxycin
Doxycyclin
Doxycycline (200mg/day) or Placebo
 
Doxycycline (INN)
Doxycycline (TN)
Doxycycline (anhydrous)
Doxycycline (internal use)
Doxycycline Hyclate
Doxycycline Monohydrate
Doxycycline anhydrous
Doxycycline hyclate
Doxycycline-Chinoin
Doxycyclinum
Doxycyclinum [INN-Latin]
Doxysol
Doxytec
Doxytetracycline
EINECS 209-271-1
GS-3065 (*monohydrate)
HMS2090E06
HSDB 3071
Hydramycin
IDI1_000345
Investin
Jenacyclin
KBio1_000345
KBio2_001287
KBio2_003855
KBio2_006423
KBio3_001156
KBioGR_001133
KBioSS_001287
LS-187766
LS-93868
Liviatin
Lopac0_000405
MolPort-002-507-423
Monodox
Monodox (*monohydrate)
NCGC00161602-01
NCGC00161602-03
NCGC00161602-04
NCGC00167961-01
NCGC00179395-01
NINDS_000345
NSC633557
Novo-Doxylin
Nu-Doxycycline
Oracea
Prestwick0_000852
Prestwick1_000852
Prestwick2_000852
Prestwick3_000852
Ronaxan
SAM002589932
SMP1_000107
SPBio_000246
SPBio_002784
STOCK1N-34341
Spanor
Spectrum2_000143
Spectrum3_000408
Spectrum4_000527
Spectrum5_000947
Spectrum_000807
Supracyclin
UNII-334895S862
UPCMLD-DP021
UPCMLD-DP021:001
Vibra-tabs
Vibramycin
Vibramycin (*monohydrate)
Vibramycin Novum
Vibramycine
Vibravenos
Vivox (*Hyclate)
alpha-6-Deoxy-5-hydroxytetracycline
alpha-6-Deoxyoxytetracycline
alpha-Doxycycline
doxycycline
9Antiprotozoal AgentsPhase 11986
10Antiparasitic AgentsPhase 12127
11Anti-Infective AgentsPhase 121402
12Anti-Bacterial AgentsPhase 110884
13AntimalarialsPhase 11216
14
SimvastatinapprovedEarly Phase 151079902-63-954454
Synonyms:
(+)-Simvastatin
(1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate
2,2-Dimethylbutanoic acid (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8ar)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
79902-63-9
AC-1530
AC1L1H1F
AKOS005111006
ARONIS24119
BCBcMAP01_000007
BIDD:GT0769
BPBio1_001001
BRD-K22134346-001-05-8
BRN 4768037
BSPBio_000909
BSPBio_002337
Bio-0672
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,*aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
C25H38O5
CCRIS 7558
CHEBI:9150
CHEMBL1064
CID54454
CPD000718785
Cholestat
Coledis
Colemin
Corolin
D00434
D019821
DRG-0320
Denan
DivK1c_006991
Eucor
HMS1570N11
HMS1922H13
HMS2089D12
HMS2093E06
HSDB 7208
InChI=1/C25H38O5/c1-6-25(4,5)24(28)30-21-12-15(2)11-17-8-7-16(3)20(23(17)21)10-9-19-13-18(26)14-22(27)29-19/h7-8,11,15-16,18-21,23,26H,6,9-10,12-14H2,1-5H3/t15-,16-,18+,19+,20-,21-,23-/m0/s1
KBio1_001935
KBio2_002197
KBio2_004765
KBio2_007333
KBio3_001557
KBioGR_001244
KBioSS_002197
KS-1113
Kolestevan
L 644128-000U
LS-46264
Labistatin
Lipex
Lipinorm
Liponorm
Lipovas
Lodales
MK 0733
MK 733
MK-0733
MK-733
MK733
MLS001304029
MLS001333077
MLS001333078
 
MLS002154038
Medipo
Modutrol
MolPort-002-507-345
MolPort-002-885-862
NCGC00017324-01
NCGC00017324-02
NCGC00017324-03
Nivelipol
Nor-Vastina
Pantok
Pepstatin
Prestwick0_000865
Prestwick1_000865
Prestwick2_000865
Prestwick3_000865
Prestwick_171
Rechol
Rendapid
S1792_Selleck
S6196_SIGMA
SAM002589969
SMR000718785
SPBio_001881
SPBio_002830
SPECTRUM1504236
STK801938
Simcor
Simovil
Simvast CR
Simvastatin
Simvastatin & Primycin
Simvastatin (JAN/USP/INN)
Simvastatin [USAN:INN:BAN]
Simvastatin [Usan:Ban:Inn]
Simvastatin lactone
Simvastatin, Compactin
Simvastatina
Simvastatina [Spanish]
Simvastatine
Simvastatine [French]
Simvastatinum
Simvastatinum [Latin]
Simvotin
Sinvacor
Sinvascor
Sivastin
SpecPlus_000895
Spectrum2_001671
Spectrum3_000669
Spectrum4_000632
Spectrum5_001428
Spectrum_001717
Statin
Synvinolin
TNP00259
UNII-AGG2FN16EV
Valemia
Vasotenal
Velostatin
Vytorin
ZINC03780893
Zocor
Zocor (TN)
Zocor, Simlup, Simcard, Simvacor, Simvoget, Zorced, Simvastatin
Zocord
[(1S,3R,7S,8S,8aR)-8-[2-[(2R,4R)-4-hydroxy-6-oxooxan-2-yl]ethyl]-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl] 2,2-dimethylbutanoate
butanoic acid, 2,2-dimethyl-,1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)-ethyl]-1-naphthalenyl ester, [1S-[1 alpha,3 alpha,7 beta,8 beta(2S*,4S*),-8a beta
nchembio790-comp16
simvastatin
15
Diazepamapproved, illicit, vet_approved119439-14-53016
Synonyms:
1-Methyl-5-phenyl-7-chloro-1,3-dihydro-2H-1,4-benzodiazepin-2-one
11100-37-1
439-14-5
5-24-04-00300 (Beilstein Handbook Reference)
53320-84-6
7-Chloro-1,3-dihydro-1-methyl-5-phenyl-2H-1,4-benzodiazepin-2-one
7-Chloro-1-methyl-2-oxo-5-phenyl-3H-1,4-benzodiazepine
7-Chloro-1-methyl-5-3H-1,4-benzodiazepin-2(1H)-one
7-Chloro-1-methyl-5-phenyl-1,3-dihydro-2H-1,4-benzodiazepin-2-one
7-Chloro-1-methyl-5-phenyl-2H-1,4-benzodiazepin-2-one
7-Chloro-1-methyl-5-phenyl-3H-1,4-benzodiazepin-2(1H)-one
7-chloro-1,3-dihydro-1-methyl-5-phenyl-2H-1,4-benzodiazepin-2-one
7-chloro-1-methyl-5-phenyl-3H-1,4-benzodiazepin-2-one
A3662/0155188
AC-10561
AC1L1EZE
AKOS003367969
Alboral
Aliseum
Alupram
Amiprol
An-Ding
Ansilive
Ansiolin
Ansiolisina
Antenex
Anxicalm
Anxionil
Apaurin
Apo-Diazepam
Apo-diazepam
Apozepam
Armonil
Arzepam
Assival
Atensine
Atilen
Azedipamin
BIDD:GT0105
BIDD:PXR0158
BRD-K16508793-001-01-8
BRN 0754371
BSPBio_003279
Baogin
Bensedin
Benzopin
Best [Pharaceutical]
Betapam
Bialzepam
Britazepam
C06948
CB 4261
CCRIS 6009
CHEBI:49575
CHEMBL12
CID3016
CPD000058398
Calmaven
Calmocitene
Calmociteno
Calmod
Calmpose
Caudel
Centrazepam
Cercine
Ceregulart
Chuansuan
Condition
D-Pam
D00293
D003975
D0899_SIGMA
D9900_FLUKA
D9900_SIGMA
DAP
DB00829
DB07699
DEA No. 2765
DZP
Desconet
Desloneg
Diacepan
Diaceplex
Dialag
Dialar
Diapam
Diapax
Diapine
Diaquel
Diastat
Diastat (TN)
Diastat Acudial
Diatran
Diazapam
Diazem
Diazemuls
Diazemulus
Diazepam
Diazepam (JP15/USP/INN)
Diazepam Dak
Diazepam Desitin
Diazepam Elmu
Diazepam Fabra
Diazepam Intensol
Diazepam Nordic
Diazepam Rectubes
Diazepam Stada
Diazepam [USAN:INN:BAN:JAN]
Diazepam solution
Diazepam-Eurogenerics
Diazepam-Lipuro
Diazepam-ratiopharm
Diazepamu
Diazepamu [Polish]
Diazepamum
Diazepamum [INN-Latin]
Diazepan
Diazepan leo
Diazepin
Diazetard
Dienpax
Dipam
Dipaz
Dipezona
Disopam
DivK1c_000967
Dizac
Domalium
Doval
Drenian
Ducene
Duksen
Dupin
Duxen
E-Pam
EINECS 207-122-5
Elcion CR
Eridan
Euphorin P
Eurosan
Evacalm
Faustal
Faustan
Faustan,
Freudal
Frustan
Gewacalm
Gihitan
Gradual
Gubex
HMS2051N04
HMS503A15
HSDB 3057
I06-0194
IDI1_000967
Iazepam
 
Jinpanfan
KBio1_000967
KBio3_002780
KBioGR_001012
Kabivitrum
Kiatrium
Kratium
Kratium 2
LA 111
LA III
LA-111
LS-122
La-Iii
Lamra
Lembrol
Levium
Liberetas
Lizan
Lovium
MLS000759402
Mandro
Mandro-Zep
Mandrozep
Medipam
Mentalium
Metamidol
Methyl diazepinone
Methyldiazepinone
Methyldiazepinone (pharmaceutical)
Methyldiazepinone, pharmaceutical
Metil Gobanal
MolPort-001-729-114
Morosan
NCGC00178168-01
NINDS_000967
NSC 169897
NSC-77518
NSC169897
NSC77518
Nellium
Nerozen
Nervium
Neurolytril
Nivalen
Nixtensyn
Noan
Notense
Novazam
Novo-Dipam
Novodipam
Oprea1_126223
Ortopsique
Paceum
Pacitran
Paralium
Paranten
Parzam
Paxate
Paxel
Paxum
Placidox 10
Placidox 2
Placidox 5
Plidan
Pms-Diazepam
Pomin
Pro-Pam
ProPAM
Prozepam
Psychopax
Q-Pam
Q-Pam Relanium
Q-pam
Quetinil
Quiatril
Quievita
Radizepam
Relaminal
Relanium
Reliver
Renborin
Ro 5-2805
Ro 5-2807
Ruhsitus
S.A. R.L
S.a. r.l.
SAM001246536
SMR000058398
STK735517
Saromet
Sedapam
Sedipam
Seduksen
Seduxen
Serenack
Serenamin
Serenzin
Servizepam
Setonil
Sibazon
Sibazone
Sico Relax
Simasedan
Sipam
Solis
Sonacon
Spectrum3_001780
Spectrum4_000576
Spectrum5_001890
Stesolid
Stesolin
T-quil
Tensium
Tensopam
Tranimul
Trankinon
Tranqdyn
Tranquase
Tranquirit
Tranquo-Puren
Tranquo-Tablinen
Tranquo-puren
Tranquo-tablinen
Trazepam
UNII-Q3JTX2Q7TU
Umbrium
Unisedil
Usempax Ap
Usempax ap
Valaxona
Valeo
Valiquid
Valitran
Valium
Valium (TN)
Valium R
Valrelease
Valuzepam
Vanconin
Vatran
Vazen
Vazepam
Velium
Vival
Vivol
WLN: T67 GNV JN IHJ CG G1 KR
WY-3467
Winii
Wy 3467
ZINC00006427
Zepaxid
Zetran
Zipan
diazepam
e-Pam
nchembio.307-comp2
nchembio747-comp27
neurolytr il
16Neuroserpin3
17AstragalusNutraceutical52

Interventional clinical trials:

idNameStatusNCT IDPhase
1Atorvastatin Therapy in Cerebral Cavernous Malformation: A Proof of Concept Phase I/II TrialNot yet recruitingNCT02603328Phase 1, Phase 2
2Influence of MMP on Brain AVM HemorrhageCompletedNCT00783523Phase 1
3Genetic Disease Gene IdentificationUnknown statusNCT00916903
4Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of StatinsCompletedNCT01764451Early Phase 1
5CoHOrt of Cerebral CavernOus maLformATion: multicEnter Prospective Observational StudyRecruitingNCT02946866
6Modifiers of Disease Severity in Cerebral Cavernous MalformationsRecruitingNCT01764529
7Implementing Health Plan-Level Care Management for Solo & Small PracticesActive, not recruitingNCT02041962

Search NIH Clinical Center for Cerebral Cavernous Malformations-1


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

Genetic Tests for Cerebral Cavernous Malformations-1

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Genetic tests related to Cerebral Cavernous Malformations-1:

id Genetic test Affiliating Genes
1 Cerebral Cavernous Malformation27
2 Cerebral Cavernous Malformations 127

Anatomical Context for Cerebral Cavernous Malformations-1

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

36
Brain, Spinal cord, Retina, Endothelial, Skin

Publications for Cerebral Cavernous Malformations-1

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Variations for Cerebral Cavernous Malformations-1

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UniProtKB/Swiss-Prot genetic disease variations for Cerebral Cavernous Malformations-1:

70
id Symbol AA change Variation ID SNP ID
1KRIT1p.Phe97SerVAR_023573
2KRIT1p.Lys569GluVAR_023574

Clinvar genetic disease variations for Cerebral Cavernous Malformations-1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KRIT1NM_194456.1(KRIT1): c.715C> T (p.Gln239Ter)SNVPathogenicrs886043300GRCh37Chr 7, 91864731: 91864731
2KRIT1NM_194456.1(KRIT1): c.1363C> T (p.Gln455Ter)SNVPathogenicrs267607203GRCh37Chr 7, 91852184: 91852184
3KRIT1NM_194456.1(KRIT1): c.987C> A (p.Cys329Ter)SNVPathogenicrs267607204GRCh37Chr 7, 91863765: 91863765

Cosmic variations for Cerebral Cavernous Malformations-1:

8
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1COSM52975GNAQsoft tissue,blood vessel,other,vascular malformationc.548G>Ap.R183Q5

Expression for genes affiliated with Cerebral Cavernous Malformations-1

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Search GEO for disease gene expression data for Cerebral Cavernous Malformations-1.

Pathways for genes affiliated with Cerebral Cavernous Malformations-1

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Pathways related to Cerebral Cavernous Malformations-1 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3KDR, PECAM1

GO Terms for genes affiliated with Cerebral Cavernous Malformations-1

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Biological processes related to Cerebral Cavernous Malformations-1 according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of endothelial cell apoptotic processGO:200035210.2KDR, KRIT1
2endothelial cell migrationGO:004354210.1PECAM1, PTEN
3peptidyl-tyrosine dephosphorylationGO:00353359.8CDKN3, PTEN
4regulation of cyclin-dependent protein serine/threonine kinase activityGO:00000799.6CDKN3, PTEN
5negative regulation of apoptotic processGO:00430669.6KDR, PDCD10, PTEN
6vasculogenesisGO:00015709.4CCM2, KDR
7positive regulation of cell proliferationGO:00082849.4KDR, PDCD10, PTEN
8angiogenesisGO:00015259.2KDR, KRIT1, PDCD10, PTEN

Molecular functions related to Cerebral Cavernous Malformations-1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine phosphatase activityGO:00047229.7CDKN3, PTEN
2protein tyrosine phosphatase activityGO:00047259.6CDKN3, PTEN
3protein tyrosine/serine/threonine phosphatase activityGO:00081389.1CDKN3, PTEN

Sources for Cerebral Cavernous Malformations-1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet