CCM3
MCID: CRB094
MIFTS: 36

Cerebral Cavernous Malformations 3 (CCM3)

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

Aliases & Classifications for Cerebral Cavernous Malformations 3

MalaCards integrated aliases for Cerebral Cavernous Malformations 3:

Name: Cerebral Cavernous Malformations 3 58 76 30 13 6 74
Cerebral Cavernous Malformation 3 12 15
Ccm3 58 76
Cerebral Cavernous Malformations, Type 3 41
Cavernous Angiomatous Malformations 76
Cavernous Hemangioma of the Brain 76
Cerebral Capillary Malformations 76
Familial Cavernous Angioma 76
Cerebral Cavernoma 76

Classifications:



External Ids:

Disease Ontology 12 DOID:0060671
OMIM 58 603285
MeSH 45 D020786
ICD10 34 Q28.3
MedGen 43 C1864040
UMLS 74 C1864040

Summaries for Cerebral Cavernous Malformations 3

UniProtKB/Swiss-Prot : 76 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 cerebral cavernous malformation 3, is related to cerebral cavernous malformations 2 and cavernous hemangioma. An important gene associated with Cerebral Cavernous Malformations 3 is PDCD10 (Programmed Cell Death 10). The drug Diazepam has been mentioned in the context of this disorder. Affiliated tissues include brain and testes, and related phenotypes are abnormality of the cerebrum and seizures

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

Human phenotypes related to Cerebral Cavernous Malformations 3:

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

Clinical features from OMIM:

603285

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 Modifiers of Disease Severity in Cerebral Cavernous Malformations Recruiting NCT01764529
2 Implementing Health Plan-Level Care Management for Solo & Small Practices Completed NCT02041962 Not Applicable
3 CASH (Cavernous Angiomas With Symptomatic Hemorrhage) Trial Readiness Recruiting NCT03652181
4 Covers to Improve Esthetic Outcome After Surgery for Chronic Subdural Hematoma Recruiting NCT03755349 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 30 PDCD10

Anatomical Context for Cerebral Cavernous Malformations 3

MalaCards organs/tissues related to Cerebral Cavernous Malformations 3:

42
Brain, Testes

Publications for Cerebral Cavernous Malformations 3

Articles related to Cerebral Cavernous Malformations 3:

(show all 12)
# Title Authors Year
1
First case of neutropenia and thrombocytopenia in the setting of cerebral cavernous malformation 3. ( 30904992 )
2019
2
The cerebral cavernous malformation 3 gene is necessary for senescence induction. ( 25655101 )
2015
3
Focal defects in single-celled tubes mutant for Cerebral cavernous malformation 3, GCKIII, or NSF2. ( 23763949 )
2013
4
Structural basis for the unique heterodimeric assembly between cerebral cavernous malformation 3 and germinal center kinase III. ( 23665169 )
2013
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
Presence of the brain proteins cerebral cavernous malformation-2 and cerebral cavernous malformation-3 in rat testes and their potential role in experimental varicocele. ( 19647235 )
2010
8
Stabilization of VEGFR2 signaling by cerebral cavernous malformation 3 is critical for vascular development. ( 20371769 )
2010
9
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
10
Apoptotic functions of PDCD10/CCM3, the gene mutated in cerebral cavernous malformation 3. ( 19246713 )
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 45)
# 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 rs1553758385 GRCh38 Chromosome 3, 167684391: 167684391
27 PDCD10 NM_145860.1(PDCD10): c.558-2A> C single nucleotide variant Uncertain significance rs1553758385 GRCh37 Chromosome 3, 167402179: 167402179
28 PDCD10 NM_145860.1(PDCD10): c.557+4_557+7delAGTA deletion Pathogenic rs1553759042 GRCh38 Chromosome 3, 167687227: 167687230
29 PDCD10 NM_145860.1(PDCD10): c.557+4_557+7delAGTA deletion Pathogenic rs1553759042 GRCh37 Chromosome 3, 167405015: 167405018
30 PDCD10 NM_145860.1(PDCD10): c.474+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs1553759139 GRCh38 Chromosome 3, 167687610: 167687610
31 PDCD10 NM_145860.1(PDCD10): c.474+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs1553759139 GRCh37 Chromosome 3, 167405398: 167405398
32 PDCD10 NM_145860.1(PDCD10): c.160_163delGAAA (p.Glu54Ilefs) deletion Pathogenic rs1553761266 GRCh38 Chromosome 3, 167697114: 167697117
33 PDCD10 NM_145860.1(PDCD10): c.160_163delGAAA (p.Glu54Ilefs) deletion Pathogenic rs1553761266 GRCh37 Chromosome 3, 167414902: 167414905
34 PDCD10 NM_145860.1(PDCD10): c.322C> T (p.Arg108Ter) single nucleotide variant Pathogenic rs1553760900 GRCh38 Chromosome 3, 167695669: 167695669
35 PDCD10 NM_145860.1(PDCD10): c.322C> T (p.Arg108Ter) single nucleotide variant Pathogenic rs1553760900 GRCh37 Chromosome 3, 167413457: 167413457
36 PDCD10 NM_145860.1(PDCD10): c.301C> T (p.Gln101Ter) single nucleotide variant Pathogenic rs1303470125 GRCh38 Chromosome 3, 167695690: 167695690
37 PDCD10 NM_145860.1(PDCD10): c.301C> T (p.Gln101Ter) single nucleotide variant Pathogenic rs1303470125 GRCh37 Chromosome 3, 167413478: 167413478
38 PDCD10 NM_145860.1(PDCD10): c.510C> G (p.Tyr170Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1553759059 GRCh38 Chromosome 3, 167687281: 167687281
39 PDCD10 NM_145860.1(PDCD10): c.510C> G (p.Tyr170Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1553759059 GRCh37 Chromosome 3, 167405069: 167405069
40 PDCD10 NM_007217.3(PDCD10): c.333dup (p.Gln112Thrfs) duplication Pathogenic GRCh37 Chromosome 3, 167413446: 167413446
41 PDCD10 NM_007217.3(PDCD10): c.333dup (p.Gln112Thrfs) duplication Pathogenic GRCh38 Chromosome 3, 167695658: 167695658
42 PDCD10 NM_007217.3(PDCD10): c.584dup (p.Asn195Lysfs) duplication Uncertain significance GRCh37 Chromosome 3, 167402151: 167402151
43 PDCD10 NM_007217.3(PDCD10): c.584dup (p.Asn195Lysfs) duplication Uncertain significance GRCh38 Chromosome 3, 167684363: 167684363
44 PDCD10 NM_145860.1(PDCD10): c.474+4C> A single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 167687611: 167687611
45 PDCD10 NM_145860.1(PDCD10): c.474+4C> A single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 167405399: 167405399

Expression for Cerebral Cavernous Malformations 3

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

Pathways for Cerebral Cavernous Malformations 3

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 9.17 CCM2 KRIT1 MOB4 PDCD10 RIPOR1 STRIP2

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 intracellular protein transport GO:0090316 8.96 PDCD10 RIPOR1
2 establishment of Golgi localization GO:0051683 8.62 PDCD10 RIPOR1

Sources for Cerebral Cavernous Malformations 3

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