MCID: CRB094
MIFTS: 35

Cerebral Cavernous Malformations 3 malady

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

Aliases & Classifications for Cerebral Cavernous Malformations 3

About this section

Aliases & Descriptions for Cerebral Cavernous Malformations 3:

Name: Cerebral Cavernous Malformations 3 49 11 67 24 65
Cavernous Angiomatous Malformations 67
Cavernous Hemangioma of the Brain 67
Cerebral Capillary Malformations 67
 
Familial Cavernous Angioma 67
Cerebral Cavernoma 67
Ccm3 67

Classifications:



External Ids:

OMIM49 603285
MedGen34 C1864040
MeSH36 D020786
UMLS65 C1864040

Summaries for Cerebral Cavernous Malformations 3

About this section
UniProtKB/Swiss-Prot:67 Cerebral cavernous malformations 3: 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.

MalaCards based summary: Cerebral Cavernous Malformations 3, also known as cavernous angiomatous malformations, is related to familial cerebral cavernous malformation 3 and cerebral cavernous malformations-2, and has symptoms including abnormality of the cerebrum, paralysis and headache. An important gene associated with Cerebral Cavernous Malformations 3 is PDCD10 (Programmed Cell Death 10). Affiliated tissues include brain, endothelial and eye.

Description from OMIM:49 603285

Related Diseases for Cerebral Cavernous Malformations 3

About this section

Graphical network of diseases related to Cerebral Cavernous Malformations 3:



Diseases related to cerebral cavernous malformations 3

Symptoms for Cerebral Cavernous Malformations 3

About this section


Clinical features from OMIM:

603285

HPO human phenotypes related to Cerebral Cavernous Malformations 3:

id Description Frequency HPO Source Accession
1 abnormality of the cerebrum obligate (100%) HP:0002060
2 paralysis frequent (33%) HP:0003470
3 headache frequent (33%) HP:0002315
4 cerebral hemorrhage frequent (33%) HP:0001342
5 seizures frequent (33%) HP:0001250

Drugs & Therapeutics for Cerebral Cavernous Malformations 3

About this section

Drugs for Cerebral Cavernous Malformations 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SimvastatinapprovedPhase 049379902-63-954454
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
2
Diazepamapproved, illicit106439-14-53016
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
3Anticholesteremic AgentsPhase 01732
4Hypolipidemic AgentsPhase 02228
5Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 01804
6AntimetabolitesPhase 09454
7AstragalusNutraceutical48

Interventional clinical trials:

idNameStatusNCT IDPhase
1Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of StatinsCompletedNCT01764451Phase 0
2Modifiers of Disease Severity in Cerebral Cavernous MalformationsRecruitingNCT01764529
3Implementing Health Plan-Level Care Management for Solo & Small PracticesActive, not recruitingNCT02041962
4Genetic Disease Gene IdentificationEnrolling by invitationNCT00916903

Search NIH Clinical Center for Cerebral Cavernous Malformations 3

Genetic Tests for Cerebral Cavernous Malformations 3

About this section

Anatomical Context for Cerebral Cavernous Malformations 3

About this section

MalaCards organs/tissues related to Cerebral Cavernous Malformations 3:

33
Brain, Endothelial, Eye

Animal Models for Cerebral Cavernous Malformations 3 or affiliated genes

About this section

Publications for Cerebral Cavernous Malformations 3

About this section

Articles related to Cerebral Cavernous Malformations 3:

(show all 12)
idTitleAuthorsYear
1
Prevalence and risk factors of louse-borne relapsing fever in high risk populations in Bahir Dar city Northwest, Ethiopia. (25196787)
2014
2
Schisandrin B induces apoptosis and cell cycle arrest of gallbladder cancer cells. (25165862)
2014
3
E23K polymorphism of the KCNJ11 gene in Korean children with type 1 diabetes. (22573428)
2012
4
Imaging findings of intravascular papillary endothelial hyperplasia presenting in extremities: correlation with pathological findings. (20157705)
2010
5
Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration. (20140183)
2010
6
Endothelial function in patients with proteinuric primary glomerulonephritis. (18509248)
2008
7
Multiple biomarkers improve prediction of bladder cancer recurrence and mortality in patients undergoing cystectomy. (18008359)
2008
8
Nociceptin levels in the cerebrospinal fluid of chronic pain patients with or without intrathecal administration of morphine. (17000354)
2006
9
Gp130-mediated pathway and left ventricular remodeling. (12555148)
2002
10
In vivo expression of cytokine receptor mRNA in atopic dermatitis. (9723668)
1998
11
Quantitative measurements of the cooperativity in an EF-hand protein with sequential calcium binding. (7549868)
1995
12
Frequency of the phenylalanine deletion (delta F508) in the CF gene of Belgian cystic fibrosis patients. (1673094)
1991

Variations for Cerebral Cavernous Malformations 3

About this section

Clinvar genetic disease variations for Cerebral Cavernous Malformations 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PDCD10PDCD10, 586C-Tsingle nucleotide variantPathogenic
2PDCD10PDCD10, 385C-Tsingle nucleotide variantPathogenic
3PDCD10PDCD10, 103C-Tsingle nucleotide variantPathogenic
4PDCD10PDCD10, 54-BP DELdeletionPathogenic
5PDCD10PDCD10, 4-BP DELdeletionPathogenic
6PDCD10PDCD10, IVS8AS, G-A, -1single nucleotide variantPathogenic
7PDCD10PDCD10, DELdeletionPathogenic

Expression for genes affiliated with Cerebral Cavernous Malformations 3

About this section
Search GEO for disease gene expression data for Cerebral Cavernous Malformations 3.

Pathways for genes affiliated with Cerebral Cavernous Malformations 3

About this section

GO Terms for genes affiliated with Cerebral Cavernous Malformations 3

About this section

Sources for Cerebral Cavernous Malformations 3

About this section
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