MCID: CRB103
MIFTS: 50

Cerebral Cavernous Malformations-1 malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases, Cardiovascular diseases, Fetal diseases categories

Aliases & Classifications for Cerebral Cavernous Malformations-1

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Aliases & Descriptions for Cerebral Cavernous Malformations-1:

Name: Cerebral Cavernous Malformations-1 49 24
Cerebral Cavernous Malformation 45 23 46
Cavernous Malformations of Cns and Retina 49 11
Familial Cerebral Cavernous Malformation 23 65
Cerebral Cavernous Malformations 47 24
Cerebral Cavernous Hemangioma 45 23
Cavernous Angioma 45 46
Ccm 45 23
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations 49
Central Nervous System Cavernous Hemangioma 23
Familial Cerebral Cavernous Angioma 23
Cavernous Angiomatous Malformations 67
 
Intracerebral Cavernous Hemangioma 23
Cerebral Cavernous Malformations 1 67
Cavernous Hemangioma of the Brain 67
Cerebral Capillary Malformations 67
Familial Cavernous Malformation 23
Familial Cavernous Hemangioma 23
Familial Cavernous Angioma 67
Hemangioma, Cavernous 65
Cerebral Cavernoma 67
Angioma, Cavernous 65
Cavernoma 45
Ccm1 67


Classifications:



External Ids:

OMIM49 116860
MeSH36 D020786

Summaries for Cerebral Cavernous Malformations-1

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OMIM:49 Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the central nervous... (116860) more...

MalaCards based summary: Cerebral Cavernous Malformations-1, also known as cerebral cavernous malformation, is related to cerebral cavernous malformations-2 and hydrocephalus, 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 are Akt Signaling Pathway and . Affiliated tissues include brain, spinal cord and endothelial, and related mouse phenotypes are craniofacial and embryogenesis.

NIH Rare Diseases:45 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. last updated: 6/10/2011

NINDS:46 A cerebral cavernous malformation (CCM) is a collection of small blood vessels (capillaries) in the central nervous system (CNS) that is enlarged and irregular in structure.

Genetics Home Reference:23 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).

UniProtKB/Swiss-Prot:67 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 top 50)    (show all 148)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral cavernous malformations-230.5CCM2, KRIT1, PDCD10
2hydrocephalus30.2CCM2, KRIT1, PDCD10
3klippel-trenaunay-weber syndrome30.1CCM2, KRIT1, PDCD10
4venous malformations, multiple cutaneous and mucosal29.9CCM2, KRIT1, PDCD10, PTEN
5cavernous malformation11.3
6cerebral cavernous malformations 310.8
7cerebral cavernous malformation, familial10.7
8cerebritis10.7
9endotheliitis10.6
10hemangioma10.5
11cavernous hemangioma10.5
12familial cerebral cavernous malformation 110.5
13familial cerebral cavernous malformation 210.5
14vascular malformation10.5
15familial cerebral cavernous malformation 310.5
16congenital vascular cavernous malformations10.5
17cerebrocostomandibular syndrome10.4
18dermal unilateral segmental cavernous angioma10.4
19greenberg skeletal dysplasia10.4
20cerebral hemorrhage10.4
21central nervous system hematologic cancer10.4
22central nervous system hemangioma10.4
23cerebral angioma10.4
24brain angioma10.4
25brain cancer10.4
26capillary hemangioma10.4
27central nervous system cancer10.4
28cerebrum cancer10.4
29congenital nervous system abnormality10.4
30nervous system cancer10.4
31vascular cancer10.4
32vascular disease10.4
33vascular hemostatic disease10.4
34factor v leiden thrombophilia10.4
35familial cerebral cavernous malformation 410.4
36familial hemangioma10.4
37medulloblastoma10.3
38factor vii deficiency10.3
39focal dystonia10.3
40superficial siderosis10.3
41stroke, ischemic10.3
42nervous system disease10.3
43neurologic diseases10.3
44cluster headache10.3
45headache10.3
46seizure disorder10.3
47roberts syndrome10.2
48ectodermal dysplasia10.2
49temporal lobe epilepsy10.2
50trigeminal neuralgia10.2

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



Diseases related to cerebral cavernous malformations-1

Symptoms for Cerebral Cavernous Malformations-1

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Symptoms by clinical synopsis from OMIM:

116860

Clinical features from OMIM:

116860

HPO human phenotypes related to Cerebral Cavernous Malformations-1:

(show all 21)
id Description Frequency HPO Source Accession
1 cavernous hemangioma typical (50%) HP:0001048
2 seizures typical (50%) HP:0001250
3 cerebral calcification typical (50%) HP:0002514
4 hemiplegia/hemiparesis typical (50%) HP:0004374
5 abnormality of movement typical (50%) HP:0100022
6 arteriovenous malformation typical (50%) HP:0100026
7 abnormality of the cerebral vasculature typical (50%) HP:0100659
8 abnormality of the retinal vasculature occasional (7.5%) HP:0008046
9 upper limb phocomelia occasional (7.5%) HP:0009813
10 visceral angiomatosis occasional (7.5%) HP:0100761
11 autosomal dominant inheritance HP:0000006
12 abnormality of the skin HP:0000951
13 seizures HP:0001250
14 heterogeneous HP:0001425
15 intracranial hemorrhage HP:0002170
16 headache HP:0002315
17 cerebral calcification HP:0002514
18 abnormality of the musculature HP:0003011
19 incomplete penetrance HP:0003829
20 hepatic vascular malformations HP:0006576
21 retinal vascular malformation HP:0007797

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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AtorvastatinapprovedPhase 1, Phase 2690134523-00-560823
Synonyms:
(3R,5R)-7-[2-(4-fluorophenyl)-3-phenyl-4-(phenylcarbamoyl)-5-propan-2-ylpyrrol-1-yl]-3,5-dihydroxyheptanoic acid
(3R,5R)-7-[3-(anilinocarbonyl)-5-(4-fluorophenyl)-2-isopropyl-4-phenyl-1H-pyrrol-1-yl]-3,5-dihydroxyheptanoic acid
(R-(R*,R*))-2-(4-Fluorophenyl)-beta,delta-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoic acid
(betaR,deltaR)-2-(p-Fluorophenyl)-beta,delta-dihydroxy-5-isopropyl-3-phenyl-4-(phenylcarbamoyl)pyrrole-1-heptanoic acid
134523-00-5
134523-03-8
7-[2-(4-FLUORO-PHENYL)-5-ISOPROPYL-3-PHENYL-4-PHENYLCARBAMOYL-PYRROL-1-YL]- 3,5-DIHYDROXY-HEPTANOIC ACID
AC-15611
AC1L1TZT
AC1Q1OZQ
AKOS000281127
Atogal
Atorlip
Atorpic
Atorvastatin
Atorvastatin (INN)
Atorvastatin Calcium
Atorvastatin [INN:BAN]
Atorvastatin acid
Atorvastatin calcium
BIDD:GT0336
C06834
C33H35FN2O5
CCRIS 7159
CHEBI:39548
CHEMBL1487
CI 981
CID60823
Cardyl
D07474
DB01076
Faboxim
 
HSDB 7039
Hipolixan
LS-136975
Lipitor
Lipitor (TN)
Lipitor(TM)
Lipotropic
Lipovastatinklonal
Liprimar
Lowden
MolPort-000-883-773
NCGC00159458-02
Normalip
Sincol
Sortis
Sortis (TN)
Sotis
Torvacard
Torvast
Totalip
Tozalip
Tulip
UNII-A0JWA85V8F
Vastina
Xanator
Xarator
Xavator
Zurinel
atorvastatin
atorvastatina
atorvastatine
atorvastatinium
atrovastin
nchembio.301-comp8
2
Doxycyclineapproved, investigationalPhase 1204564-25-054671203, 5281011
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
(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
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
6α-deoxy-5-oxytetracycline
7164-70-7
7264-10-0
94088-85-4 (calcium salt (1:2))
AB08 (*Fosfatex)
AC1NQXW7
AC1NS4CW
AC1NUYS8
AC1O8PYM
Adoxa
Alodox
Alti-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
Doryx
Dossiciclina
Dossiciclina [DCIT]
Doxcycline anhydrous
Doxiciclina
Doxiciclina [INN-Spanish]
Doxiciclina [Italian]
Doxitard
Doxivetin
Doxy 100
Doxy-Caps
Doxy-Puren
Doxy-Tabs
Doxycen
Doxychel
Doxychel (TN)
Doxycin
Doxycyclin
Doxycycline
Doxycycline (200mg/day) or Placebo
Doxycycline (INN)
 
Doxycycline (TN)
Doxycycline (anhydrous)
Doxycycline (internal use)
Doxycycline Hyclate
Doxycycline Monohydrate
Doxycycline anhydrous
Doxycycline hyclate
Doxycycline hydrochloride
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)
Morgidox
NCGC00161602-01
NCGC00161602-03
NCGC00161602-04
NCGC00167961-01
NCGC00179395-01
NINDS_000345
NSC633557
Novo-Doxylin
Nu-Doxycycline
Ocudox
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 Monohydrate
Vibramycin Novum
Vibramycine
Vibravenos
Vivox (*Hyclate)
alpha-6-Deoxy-5-hydroxytetracycline
alpha-6-Deoxyoxytetracycline
alpha-Doxycycline
doxycycline
3
SimvastatinapprovedPhase 048279902-63-954454
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
4
Diazepamapproved, illicit92439-14-53016
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
5AstragalusNutraceutical43

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
3Modifiers of Disease Severity in Cerebral Cavernous MalformationsRecruitingNCT01764529
4Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of StatinsRecruitingNCT01764451Phase 0
5Implementing Health Plan-Level Care Management for Solo & Small PracticesActive, not recruitingNCT02041962
6Genetic Disease Gene IdentificationEnrolling by invitationNCT00916903

Search NIH Clinical Center for Cerebral Cavernous Malformations-1

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 Malformation24
2 Cerebral Cavernous Malformations 124

Anatomical Context for Cerebral Cavernous Malformations-1

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

33
Brain, Spinal cord, Endothelial, Retina, Skin, Eye

Animal Models for Cerebral Cavernous Malformations-1 or affiliated genes

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MGI Mouse Phenotypes related to Cerebral Cavernous Malformations-1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0CCM2, KRIT1, PDCD10, PTEN
2MP:00053808.1CCM2, KDR, KRIT1, PDCD10, PTEN
3MP:00053698.1CCM2, KDR, PDCD10, PECAM1, PTEN
4MP:00053977.9CCM2, KDR, PDCD10, PECAM1, PTEN
5MP:00053917.8CCM2, KDR, KRIT1, PDCD10, PTEN
6MP:00053857.5CCM2, KDR, KRIT1, PDCD10, PECAM1, PTEN

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:

67
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
1KRIT1KRIT1, 1283C-Tsingle nucleotide variantPathogenic
2KRIT1KRIT1, 1-BP DEL, 1342AdeletionPathogenic
3KRIT1KRIT1, 1-BP INS, 1271CinsertionPathogenic
4KRIT1NM_194456.1(KRIT1): c.1363C> T (p.Gln455Ter)single nucleotide variantPathogenicrs267607203GRCh37Chr 7, 91852184: 91852184
5KRIT1KRIT1, IVS2, T-C, +2single nucleotide variantPathogenic
6KRIT1KRIT1, 2-BP DEL, 741TCdeletionPathogenic
7KRIT1NM_194456.1(KRIT1): c.410A> G (p.Asp137Gly)single nucleotide variantPathogenicrs137853139GRCh37Chr 7, 91865802: 91865802
8KRIT1NM_194456.1(KRIT1): c.601C> G (p.Gln201Glu)single nucleotide variantPathogenicrs137853140GRCh37Chr 7, 91864845: 91864845
9KRIT1NM_194456.1(KRIT1): c.987C> A (p.Cys329Ter)single nucleotide variantPathogenicrs267607204GRCh37Chr 7, 91863765: 91863765

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 pathways (with members indented)ScoreTop Affiliating Genes
19.3KDR, PTEN
2
Angiogenesis (CST)
Show member pathways
9.3KDR, PTEN
39.3KDR, PECAM1
48.9CCM2, KDR, PTEN

GO Terms for genes affiliated with Cerebral Cavernous Malformations-1

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

idNameGO IDScoreTop Affiliating Genes
1cell peripheryGO:00719449.3KDR, PECAM1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of endothelial cell apoptotic processGO:200035210.0KDR, KRIT1
2vasculogenesisGO:00015709.9CCM2, KDR
3regulation of cyclin-dependent protein serine/threonine kinase activityGO:00000799.4CDKN3, PTEN
4peptidyl-tyrosine dephosphorylationGO:00353359.1CDKN3, PTEN
5negative regulation of apoptotic processGO:00430669.1KDR, PDCD10, PTEN
6positive regulation of cell proliferationGO:00082849.1KDR, PDCD10, PTEN
7angiogenesisGO:00015258.8KDR, 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:00047229.5CDKN3, PTEN
2phosphoprotein phosphatase activityGO:00047219.3CDKN3, PTEN
3protein tyrosine/serine/threonine phosphatase activityGO:00081389.1CDKN3, PTEN
4protein tyrosine phosphatase activityGO:00047258.8CDKN3, PTEN

Sources for Cerebral Cavernous Malformations-1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet