MCID: CRB094
MIFTS: 37

Cerebral Cavernous Malformations 3

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

Aliases & Classifications for Cerebral Cavernous Malformations 3

MalaCards integrated aliases for Cerebral Cavernous Malformations 3:

Name: Cerebral Cavernous Malformations 3 57 75 29 13 6 73
Ccm3 57 12 75
Cerebral Cavernous Malformation 3 12 15
Cerebral Cavernous Malformations, Type 3 40
Cavernous Angiomatous Malformations 75
Cavernous Hemangioma of the Brain 75
Cerebral Capillary Malformations 75
Familial Cavernous Angioma 75
Cerebral Cavernoma 75

Classifications:



External Ids:

OMIM 57 603285
Disease Ontology 12 DOID:0060671
ICD10 33 Q28.3
MedGen 42 C1864040
MeSH 44 D020786
UMLS 73 C1864040

Summaries for Cerebral Cavernous Malformations 3

UniProtKB/Swiss-Prot : 75 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 ccm3, is related to cavernous malformation and cerebral cavernous malformations. An important gene associated with Cerebral Cavernous Malformations 3 is PDCD10 (Programmed Cell Death 10), and among its related pathways/superpathways are p38 MAPK signaling pathway (Pathway Interaction Database) and Regulation of p38-alpha and p38-beta. The drug Diazepam has been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are seizures and cerebral hemorrhage

Disease Ontology : 12 A cerebral cavernous malformation that_has_material_basis in mutation in the PDCD10 gene on chromosome 3q26.1.

Description from OMIM: 603285

Related Diseases for Cerebral Cavernous Malformations 3

Graphical network of the top 20 diseases related to Cerebral Cavernous Malformations 3:



Diseases related to Cerebral Cavernous Malformations 3

Symptoms & Phenotypes for Cerebral Cavernous Malformations 3

Clinical features from OMIM:

603285

Human phenotypes related to Cerebral Cavernous Malformations 3:

32
# Description HPO Frequency HPO Source Accession
1 seizures 32 frequent (33%) HP:0001250
2 cerebral hemorrhage 32 frequent (33%) HP:0001342
3 abnormality of the cerebrum 32 obligate (100%) HP:0002060
4 headache 32 frequent (33%) HP:0002315
5 paralysis 32 frequent (33%) HP:0003470

MGI Mouse Phenotypes related to Cerebral Cavernous Malformations 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.1 CCM2 KRIT1 MAP3K3 PDCD10 RAP1B STRN

Drugs & Therapeutics for Cerebral Cavernous Malformations 3

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diazepam Approved, Illicit, Investigational, Vet_approved Not Applicable 439-14-5 3016

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Implementing Health Plan-Level Care Management for Solo & Small Practices Completed NCT02041962 Not Applicable

Search NIH Clinical Center for Cerebral Cavernous Malformations 3

Genetic Tests for Cerebral Cavernous Malformations 3

Genetic tests related to Cerebral Cavernous Malformations 3:

# Genetic test Affiliating Genes
1 Cerebral Cavernous Malformations 3 29 PDCD10

Anatomical Context for Cerebral Cavernous Malformations 3

MalaCards organs/tissues related to Cerebral Cavernous Malformations 3:

41
Brain

Publications for Cerebral Cavernous Malformations 3

Articles related to Cerebral Cavernous Malformations 3:

(show all 12)
# Title Authors Year
1
The cerebral cavernous malformation 3 gene is necessary for senescence induction. ( 25655101 )
2015
2
Focal defects in single-celled tubes mutant for Cerebral cavernous malformation 3, GCKIII, or NSF2. ( 23763949 )
2013
3
Structural basis for the unique heterodimeric assembly between cerebral cavernous malformation 3 and germinal center kinase III. ( 23665169 )
2013
4
Adaptor protein cerebral cavernous malformation 3 (CCM3) mediates phosphorylation of the cytoskeletal proteins ezrin/radixin/moesin by mammalian Ste20-4 to protect cells from oxidative stress. ( 22291017 )
2012
5
Molecular recognition of leucine-aspartate repeat (LD) motifs by the focal adhesion targeting homology domain of cerebral cavernous malformation 3 (CCM3). ( 21632544 )
2011
6
Loss of cerebral cavernous malformation 3 (Ccm3) in neuroglia leads to CCM and vascular pathology. ( 21321212 )
2011
7
Stabilization of VEGFR2 signaling by cerebral cavernous malformation 3 is critical for vascular development. ( 20371769 )
2010
8
Functional analyses of human and zebrafish 18-amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 protein. ( 19370760 )
2009
9
Apoptotic functions of PDCD10/CCM3, the gene mutated in cerebral cavernous malformation 3. ( 19246713 )
2009
10
A PP2A phosphatase high density interaction network identifies a novel striatin-interacting phosphatase and kinase complex linked to the cerebral cavernous malformation 3 (CCM3) protein. ( 18782753 )
2009
11
PDCD10, the gene mutated in cerebral cavernous malformation 3, is expressed in the neurovascular unit. ( 18496199 )
2008
12
Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3. ( 16284570 )
2005

Variations for Cerebral Cavernous Malformations 3

ClinVar genetic disease variations for Cerebral Cavernous Malformations 3:

6
(show all 39)
# Gene Variation Type Significance SNP ID Assembly Location
1 PDCD10 PDCD10, 586C-T single nucleotide variant Pathogenic
2 PDCD10 PDCD10, 385C-T single nucleotide variant Pathogenic
3 PDCD10 PDCD10, 103C-T single nucleotide variant Pathogenic
4 PDCD10 PDCD10, 54-BP DEL deletion Pathogenic
5 PDCD10 PDCD10, 4-BP DEL deletion Pathogenic
6 PDCD10 PDCD10, IVS8AS, G-A, -1 single nucleotide variant Pathogenic
7 PDCD10 PDCD10, DEL deletion Pathogenic
8 PDCD10 NM_007217.3(PDCD10): c.96+865A> C single nucleotide variant not provided rs779988645 GRCh37 Chromosome 3, 167436985: 167436985
9 PDCD10 NM_007217.3(PDCD10): c.96+865A> C single nucleotide variant not provided rs779988645 GRCh38 Chromosome 3, 167719197: 167719197
10 PDCD10 NM_007217.3(PDCD10): c.96+5295_96+5296insT insertion not provided rs890418416 GRCh37 Chromosome 3, 167432555: 167432555
11 PDCD10 NM_007217.3(PDCD10): c.96+5295_96+5296insT insertion not provided rs890418416 GRCh38 Chromosome 3, 167714766: 167714767
12 PDCD10 NM_007217.3(PDCD10): c.150+2693T> C single nucleotide variant not provided rs374384046 GRCh37 Chromosome 3, 167419937: 167419937
13 PDCD10 NM_007217.3(PDCD10): c.150+2693T> C single nucleotide variant not provided rs374384046 GRCh38 Chromosome 3, 167702149: 167702149
14 PDCD10 NM_007217.3(PDCD10): c.-116-2132T> G single nucleotide variant not provided rs147072468 GRCh37 Chromosome 3, 167440193: 167440193
15 PDCD10 NM_007217.3(PDCD10): c.-116-2132T> G single nucleotide variant not provided rs147072468 GRCh38 Chromosome 3, 167722405: 167722405
16 PDCD10 NM_007217.3(PDCD10): c.151-2025A> G single nucleotide variant not provided rs773691623 GRCh37 Chromosome 3, 167416939: 167416939
17 PDCD10 NM_007217.3(PDCD10): c.151-2025A> G single nucleotide variant not provided rs773691623 GRCh38 Chromosome 3, 167699151: 167699151
18 PDCD10 NM_007217.3(PDCD10): c.96+6786_96+6787delTT deletion not provided rs577939683 GRCh37 Chromosome 3, 167431063: 167431064
19 PDCD10 NM_007217.3(PDCD10): c.96+6786_96+6787delTT deletion not provided rs577939683 GRCh38 Chromosome 3, 167713275: 167713276
20 PDCD10 NM_007217.3(PDCD10): c.96+4988C> G single nucleotide variant not provided rs748153515 GRCh37 Chromosome 3, 167432862: 167432862
21 PDCD10 NM_007217.3(PDCD10): c.96+4988C> G single nucleotide variant not provided rs748153515 GRCh38 Chromosome 3, 167715074: 167715074
22 PDCD10 NM_007217.3(PDCD10): c.-117+1010C> T single nucleotide variant not provided rs912904786 GRCh37 Chromosome 3, 167450992: 167450992
23 PDCD10 NM_007217.3(PDCD10): c.-117+1010C> T single nucleotide variant not provided rs912904786 GRCh38 Chromosome 3, 167733204: 167733204
24 PDCD10 NM_007217.3(PDCD10): c.96+4389A> G single nucleotide variant not provided rs541610164 GRCh37 Chromosome 3, 167433461: 167433461
25 PDCD10 NM_007217.3(PDCD10): c.96+4389A> G single nucleotide variant not provided rs541610164 GRCh38 Chromosome 3, 167715673: 167715673
26 PDCD10 NM_145860.1(PDCD10): c.558-2A> C single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 167684391: 167684391
27 PDCD10 NM_145860.1(PDCD10): c.558-2A> C single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 167402179: 167402179
28 PDCD10 NM_145860.1(PDCD10): c.557+4_557+7delAGTA deletion Pathogenic GRCh38 Chromosome 3, 167687227: 167687230
29 PDCD10 NM_145860.1(PDCD10): c.557+4_557+7delAGTA deletion Pathogenic GRCh37 Chromosome 3, 167405015: 167405018
30 PDCD10 NM_145860.1(PDCD10): c.474+5G> A single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 3, 167687610: 167687610
31 PDCD10 NM_145860.1(PDCD10): c.474+5G> A single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 3, 167405398: 167405398
32 PDCD10 NM_145860.1(PDCD10): c.160_163delGAAA (p.Glu54Ilefs) deletion Pathogenic GRCh38 Chromosome 3, 167697114: 167697117
33 PDCD10 NM_145860.1(PDCD10): c.160_163delGAAA (p.Glu54Ilefs) deletion Pathogenic GRCh37 Chromosome 3, 167414902: 167414905
34 PDCD10 NM_145860.1(PDCD10): c.322C> T (p.Arg108Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 167695669: 167695669
35 PDCD10 NM_145860.1(PDCD10): c.322C> T (p.Arg108Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 167413457: 167413457
36 PDCD10 NM_145860.1(PDCD10): c.301C> T (p.Gln101Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 167695690: 167695690
37 PDCD10 NM_145860.1(PDCD10): c.301C> T (p.Gln101Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 167413478: 167413478
38 PDCD10 NM_145860.1(PDCD10): c.510C> G (p.Tyr170Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 167687281: 167687281
39 PDCD10 NM_145860.1(PDCD10): c.510C> G (p.Tyr170Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 167405069: 167405069

Expression for Cerebral Cavernous Malformations 3

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

Pathways for Cerebral Cavernous Malformations 3

Pathways related to Cerebral Cavernous Malformations 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.42 CCM2 MAP3K3
2 10.05 CCM2 MAP3K3

GO Terms for Cerebral Cavernous Malformations 3

Cellular components related to Cerebral Cavernous Malformations 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.32 CCM2 ITGB1BP1 KRIT1 MAP3K3 MOB4 PDCD10

Biological processes related to Cerebral Cavernous Malformations 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of Notch signaling pathway GO:0045747 9.32 ITGB1BP1 PDCD10
2 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.26 ITGB1BP1 PDCD10
3 positive regulation of intracellular protein transport GO:0090316 9.16 PDCD10 RIPOR1
4 regulation of establishment of cell polarity GO:2000114 8.96 KRIT1 RAP1B
5 establishment of Golgi localization GO:0051683 8.62 PDCD10 RIPOR1

Molecular functions related to Cerebral Cavernous Malformations 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.65 CCM2 ITGB1BP1 KRIT1 MAP3K3 MOB4 PDCD10
2 protein-containing complex binding GO:0044877 8.92 ITGB1BP1 KRIT1 RAP1B STRN

Sources for Cerebral Cavernous Malformations 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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