MCID: CRB103
MIFTS: 48

Cerebral Cavernous Malformations-1 malady

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

Aliases & Classifications for Cerebral Cavernous Malformations-1

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Aliases & Descriptions for Cerebral Cavernous Malformations-1:

Name: Cerebral Cavernous Malformations-1 50
Cerebral Cavernous Malformation 46 24 47 25
Cerebral Cavernous Malformations 1 68 25 66
Cavernous Malformations of Cns and Retina 50 12
Familial Cerebral Cavernous Malformation 24 66
Cerebral Cavernous Hemangioma 46 24
Cavernous Angioma 46 47
Ccm 46 24
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations 50
Hemangioma, Cavernous, Central Nervous System 37
Central Nervous System Cavernous Hemangioma 24
Cavernous Angiomatous Malformations 68
Familial Cerebral Cavernous Angioma 24
 
Intracerebral Cavernous Hemangioma 24
Cavernous Hemangioma of the Brain 68
Cerebral Capillary Malformations 68
Cerebral Cavernous Malformations 48
Familial Cavernous Malformation 24
Familial Cavernous Hemangioma 24
Familial Cavernous Angioma 68
Hemangioma, Cavernous 66
Cerebral Cavernoma 68
Angioma, Cavernous 66
Cavernoma 46
Ccm1 68

Characteristics:

HPO:

62
cerebral cavernous malformations-1:
Inheritance: autosomal dominant inheritance, heterogeneous
Onset and clinical course: incomplete penetrance


Classifications:



External Ids:

OMIM50 116860
MeSH37 D020786

Summaries for Cerebral Cavernous Malformations-1

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NIH Rare Diseases:46 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 are VEGF Signaling and Angiogenesis (CST). Affiliated tissues include brain, spinal cord and retina, and related mouse phenotypes are integument and embryo.

UniProtKB/Swiss-Prot:68 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.

NINDS:47 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.

Genetics Home Reference:24 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:50 Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the central nervous... (116860) more...

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 34)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral cavernous malformations 312.5
2cerebral cavernous malformation, familial12.4
3intracranial cavernous angioma12.2
4familial cerebral cavernous malformation 212.2
5familial cerebral cavernous malformation 312.2
6familial cerebral cavernous malformation 112.1
7familial cerebral cavernous malformation 412.1
8dermal unilateral segmental cavernous angioma12.1
9cerebral cavernous malformations-211.7
10cerebrocostomandibular syndrome11.5
11cavernous malformation11.3
12cerebritis10.3
13hemangioma10.0
14cavernous hemangioma10.0
15congenital cystic eye multiple ocular and intracranial anomalies10.0KDR, PECAM1
16pura syndrome9.9KDR, PECAM1
17epidermolysis bullosa9.9KDR, PECAM1
18charcot-marie-tooth neuropathy type 19.9CCM2, KRIT1, PDCD10
19greig cephalopolysyndactyly syndrome9.9CCM2, KRIT1, PDCD10
20benign ependymoma9.9CCM2, KRIT1, PDCD10
21acute bilateral depigmentation of the iris9.9KDR, PECAM1
22miyoshi muscular dystrophy 29.9CCM2, KRIT1, PDCD10
23acute porphyria9.8KDR, PECAM1
24lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy9.8KDR, PECAM1
25glioma susceptibility 29.7CDKN3, PTEN
26giant cell glioblastoma9.7KDR, PTEN
27cowden syndrome 69.7CDKN3, PTEN
28gorham's disease9.6KDR, KRIT1, PECAM1
29hematopoietic stem cell transplantation9.6KDR, PTEN
30lipoma of the rectum9.5CDKN3, PTEN
31central cord syndrome9.4CCM2, KRIT1, PDCD10, PTEN
32retinitis pigmentosa 319.4CCM2, KRIT1, PDCD10, PTEN
33frontotemporal dementia and/or amyotrophic lateral sclerosis 49.4KDR, PTEN
34epilepsy, progressive myoclonic 3, with or without intracellular inclusions7.5CCM2, 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 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 18)
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 abnormality of the skin HP:0000951
12 seizures HP:0001250
13 intracranial hemorrhage HP:0002170
14 headache HP:0002315
15 cerebral calcification HP:0002514
16 abnormality of the musculature HP:0003011
17 hepatic vascular malformations HP:0006576
18 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
1Atorvastatin CalciumPhase 1, Phase 2727134523-03-8
2
DoxycyclinePhase 1232564-25-054671203
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
(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
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
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
3
SimvastatinPhase 050379902-63-954454
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
Diazepam114439-14-53016
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
5
cobalt1617440-48-4104729
Synonyms:
Aquacat
Co
 
Cobalt-59
Cobatope-57
Kobalt
Super cobalt

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
3Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of StatinsCompletedNCT01764451Phase 0
4Modifiers of Disease Severity in Cerebral Cavernous MalformationsRecruitingNCT01764529
5Implementing Health Plan-Level Care Management for Solo & Small PracticesActive, not recruitingNCT02041962
6Genetic Disease Gene IdentificationEnrolling by invitationNCT00916903
7Cerebral Bases Bodily RepresentationsNot yet recruitingNCT02876016
8New Covered Stent (Willis) for the Endovascular Reconstruction of Intracranial Vessel Wall Defects RegistryNot yet recruitingNCT02820779

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 Malformation25
2 Cerebral Cavernous Malformations 125

Anatomical Context for Cerebral Cavernous Malformations-1

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

34
Brain, Spinal cord, Retina, Endothelial, Skin

Animal Models for Cerebral Cavernous Malformations-1 or affiliated genes

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MGI Mouse Phenotypes related to Cerebral Cavernous Malformations-1:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.4CCM2, KDR, KRIT1, PDCD10, PTEN
2MP:00053808.2CCM2, KDR, KRIT1, PDCD10, PTEN
3MP:00053918.1CCM2, KDR, KRIT1, PDCD10, PTEN
4MP:00053697.7CCM2, KDR, KRIT1, PDCD10, PECAM1, PTEN
5MP:00053857.3CCM2, 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:

68
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.1363C> T (p.Gln455Ter)single nucleotide variantPathogenicrs267607203GRCh37Chr 7, 91852184: 91852184
2KRIT1NM_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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3KDR, PTEN
2
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:200035210.1KDR, KRIT1
2vasculogenesisGO:00015709.9CCM2, KDR
3endothelial cell migrationGO:00435429.4PECAM1, PTEN
4regulation of cyclin-dependent protein serine/threonine kinase activityGO:00000799.4CDKN3, PTEN
5peptidyl-tyrosine dephosphorylationGO:00353359.4CDKN3, PTEN
6positive regulation of cell proliferationGO:00082848.9KDR, PDCD10, PTEN
7angiogenesisGO:00015258.7KDR, KRIT1, PDCD10, PTEN
8negative regulation of apoptotic processGO:00430668.6KDR, PDCD10, PTEN

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

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine/serine/threonine phosphatase activityGO:00081389.1CDKN3, PTEN
2protein tyrosine phosphatase activityGO:00047259.1CDKN3, PTEN
3protein serine/threonine phosphatase activityGO:00047228.8CDKN3, PTEN

Sources for Cerebral Cavernous Malformations-1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet