CCM2 gene related symptoms and diseases
All the information presented here about the CCM2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CCM2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Headache | Very Common - Between 80% and 100% cases |
| Cerebral hemorrhage | Very Common - Between 80% and 100% cases |
| Increased intracranial pressure | Uncommon - Between 30% and 50% cases |
| Focal T2 hypointense brainstem lesion | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CCM2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Retinal cavernous angioma
- Choroidal hemangioma
- Neuroma
- Spinal cord lesion
- Venous malformation
- Vascular skin abnormality
- Episodic vomiting
- Meningioma
And 13 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CCM2 gene
Here you will find a list of rare diseases related to the CCM2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2
Most common symptoms of CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2
- Seizures
- Ataxia
- Headache
- Gait ataxia
- Stroke
More info about CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2
FAMILIAL CEREBRAL CAVERNOUS MALFORMATION
Alternate names
FAMILIAL CEREBRAL CAVERNOUS MALFORMATION Is also known as familial brain cavernous hemangioma, familial brain cavernous angioma, hereditary cerebral cavernoma, hereditary brain cavernous angioma, hereditary cerebral cavernous malformation, familial cerebral cavernoma, hereditary brain cavernous hemangioma
Description
Familial cerebral cavernous malformation (FCCM) is a rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.
Most common symptoms of FAMILIAL CEREBRAL CAVERNOUS MALFORMATION
- Seizures
- Scoliosis
- Cognitive impairment
- Headache
- Hemangioma
More info about FAMILIAL CEREBRAL CAVERNOUS MALFORMATION
SOURCES: ORPHANET
Search interest in CCM2
Potential gene panels for CCM2 gene
Complete CCM Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Complete CCM Sequencing and CNV Evaluation that also includes the following genes: KRIT1 CCM2 PDCD10
More info about this panel United States.
CCM2 Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the CCM2 gene.
More info about this panel United States.
NGS Vascular Disorders Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Vascular Disorders Panel that also includes the following genes: SOX18 TEK VEGFC GLMN KRIT1 STAMBP GJC2 ACVRL1 CCM2 CCBE1
More info about this panel United States.
familial cerebral carvernous malformations (CCM) Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen familial cerebral carvernous malformations (CCM) that also includes the following genes: KRIT1 CCM2 PDCD10
More info about this panel Germany.
CCM2 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the CCM2 gene.
More info about this panel Germany.
Vascular Malformations Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Vascular Malformations Panel, Sequencing and Deletion/Duplication that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ACVRL1 CCM2 ENG GDF2 KCNK3
More info about this panel United States.
CCM2 Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the CCM2 gene.
More info about this panel United States.
Vascular Malformations NGS Multi-Gene Panel (21 Genes) Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Vascular Malformations NGS Multi-Gene Panel (21 Genes) that also includes the following genes: BMPR2 SOX18 TEK GLMN CAV1 KRIT1 ACVRL1 DOCK6 ANTXR1 CCM2
More info about this panel Netherlands.
CCM2, KRIT1, PDCD10. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica CCM2, KRIT1, PDCD10. MLPA testing that also includes the following genes: KRIT1 CCM2 PDCD10
More info about this panel Spain.
CCM2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CCM2 gene.
More info about this panel Spain.
CCM2, KRIT1, PDCD10. NextGeneDx. Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica CCM2, KRIT1, PDCD10. NextGeneDx. Complete sequencing by NGS that also includes the following genes: KRIT1 CCM2 PDCD10
More info about this panel Spain.
Cerebral cavernous malformations type 3 (sequence analysis of CCM2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CCM2 gene.
More info about this panel Portugal.
Cerebral cavernous malformations type 2 (deletion/duplication analysis of CCM2 and PDCD10 genes) Panel
Portugal.
By CGC Genetics Cerebral cavernous malformations type 2 (deletion/duplication analysis of CCM2 and PDCD10 genes) that also includes the following genes: CCM2 PDCD10
More info about this panel Portugal.
Cerebral cavernous malformations (NGS panel for 3 genes) Panel
Portugal.
By CGC Genetics Cerebral cavernous malformations (NGS panel for 3 genes) that also includes the following genes: KRIT1 CCM2 PDCD10
More info about this panel Portugal.
Cerebral Cavernous Malformations Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Cerebral Cavernous Malformations Sequencing Panel with CNV Detection that also includes the following genes: KRIT1 CCM2 PDCD10
More info about this panel United States.
Cerebral Cavernous Malformations via the CCM2 Gene, Exons 2-10 deletion Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CCM2 gene.
More info about this panel United States.
Cerebral Cavernous Malformations via CCM2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CCM2 gene.
More info about this panel United States.
Cerebral cavernous malformations Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Cerebral cavernous malformations Comprehensive panel that also includes the following genes: KRIT1 CCM2 PDCD10
More info about this panel United States.
Cerebral cavernous malformations Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Cerebral cavernous malformations Deletion / Duplication panel that also includes the following genes: KRIT1 CCM2 PDCD10
More info about this panel United States.
Cerebral cavernous malformations NGS panel Panel
United States.
By Connective Tissue Gene Tests Cerebral cavernous malformations NGS panel that also includes the following genes: KRIT1 CCM2 PDCD10
More info about this panel United States.
Vascular malformations Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Vascular malformations Deletion / Duplication panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG
More info about this panel United States.
Vascular malformations NGS panel Panel
United States.
By Connective Tissue Gene Tests Vascular malformations NGS panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG
More info about this panel United States.
Vascular malformations Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Vascular malformations Comprehensive panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG
More info about this panel United States.
Cerebral Cavernous Malformation Panel Panel
United States.
By FirmaLab Cerebral Cavernous Malformation Panel that also includes the following genes: KRIT1 CCM2 PDCD10
More info about this panel United States.
Cerebral cavernous malformations (CCM) panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Cerebral cavernous malformations (CCM) panel that also includes the following genes: KRIT1 CCM2 PDCD10
More info about this panel Netherlands.
Cerebral cavernous malformations type 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CCM2 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Vascular and lymphatic disorders Panel Panel
Germany.
By CeGaT GmbH Vascular and lymphatic disorders Panel that also includes the following genes: SOX18 TREX1 SERPING1 VEGFC KRIT1 GJC2 ACVRL1 CCM2 FAT4 CCBE1
More info about this panel Germany.
Cerebral Cavernous Malformation (KRIT1, CCM2, PDCD10) Panel
Belgium.
By Center for Human Genetics Cliniques Universitaires Saint Luc Cerebral Cavernous Malformation (KRIT1, CCM2, PDCD10) that also includes the following genes: KRIT1 CCM2 PDCD10
More info about this panel Belgium.
Invitae Cerebral Cavernous Malformations Panel Panel
United States.
By Invitae Invitae Cerebral Cavernous Malformations Panel that also includes the following genes: KRIT1 CCM2 PDCD10
More info about this panel United States.
Cerebral cavernous familial: Deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Cerebral cavernous familial: Deletions-duplications analysis (MLPA) that also includes the following genes: KRIT1 CCM2 PDCD10
More info about this panel Spain.
CEREBRAL CAVERNOUS MALFORMATION, FAMILIAL Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CEREBRAL CAVERNOUS MALFORMATION, FAMILIAL that also includes the following genes: KRIT1 CCM2 PDCD10
More info about this panel Spain.
Cerebral Cavernous Malformation: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cerebral Cavernous Malformation: Sequencing Panel that also includes the following genes: KRIT1 CCM2 PDCD10
More info about this panel United States.
Cerebral Cavernous Malformation: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cerebral Cavernous Malformation: Deletion/Duplication Panel that also includes the following genes: KRIT1 CCM2 PDCD10
More info about this panel United States.
Cerebral Cavernous Malformations NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Cerebral Cavernous Malformations NGS Panel that also includes the following genes: KRIT1 CCM2 PDCD10
More info about this panel United States.
CCM2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CCM2 gene.
More info about this panel United States.
Hereditary hemorrhagic telangiectasia (HHT) Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hereditary hemorrhagic telangiectasia (HHT) that also includes the following genes: BMPR2 CAV1 KRIT1 ACVRL1 CCM2 ENG GDF2 SMAD4 RASA1
More info about this panel United States.
Cerebral Cavernous Malformation Panel Panel
Finland.
By Blueprint Genetics Cerebral Cavernous Malformation Panel that also includes the following genes: KRIT1 CCM2 PDCD10 RASA1
More info about this panel Finland.
Vascular Malformations Panel Panel
Finland.
By Blueprint Genetics Vascular Malformations Panel that also includes the following genes: SOX18 TEK GLMN KRIT1 STAMBP ELMO2 ACVRL1 CCM2 ENG SMAD4
More info about this panel Finland.
Hereditary cerebral cavernous malformation type 2 Panel
Spain.
By Bioarray
This panel specifically test the CCM2 gene.
More info about this panel Spain.
Rapid microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
FAMILIAL CEREBRAL CAVERNOMA Panel
Spain.
By Laboratorio de Genetica Clinica SL FAMILIAL CEREBRAL CAVERNOMA that also includes the following genes: KRIT1 CCM2 PDCD10
More info about this panel Spain.
Familial Cerebral Cavernous Malformation Type 2, Sequencing CCM2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CCM2 gene.
More info about this panel Spain.
Familial Cerebral Cavernous Malformation Types 1,2 and 3, Deletions-Duplications (MLPA) KRIT1, CCM2, PDCD10 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Cerebral Cavernous Malformation Types 1,2 and 3, Deletions-Duplications (MLPA) KRIT1, CCM2, PDCD10 Genes that also includes the following genes: KRIT1 CCM2 PDCD10
More info about this panel Spain.
Familial Cerebral Cavernous Malformation Types 1,2 and 3, Sequencing CCM1,CCM2,CCM3 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Cerebral Cavernous Malformation Types 1,2 and 3, Sequencing CCM1,CCM2,CCM3 Genes that also includes the following genes: KRIT1 CCM2 PDCD10
More info about this panel Spain.
Cerebral cavernous malformations 2 Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the CCM2 gene.
More info about this panel Germany.
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