Cerebral Cavernous Malformations 2; Ccm2

Clinical Features

Top most frequent phenotypes and symptoms related to Cerebral Cavernous Malformations 2; Ccm2

  • Seizures
  • Ataxia
  • Headache
  • Gait ataxia
  • Stroke
  • Generalized tonic-clonic seizures
  • Vertigo
  • Status epilepticus
  • Telangiectasia
  • Diplopia

And another 2 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Cerebral Cavernous Malformations 2; Ccm2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Complete CCM Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

KRIT1, CCM2, PDCD10
Specificity
34 %
Genes
100 %
CCM2 Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

CCM2
Specificity
100 %
Genes
100 %
NGS Vascular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
familial cerebral carvernous malformations (CCM).

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

KRIT1, CCM2, PDCD10
Specificity
34 %
Genes
100 %
CCM2.

By Institute for Human Genetics University Clinic Freiburg (Germany).

CCM2
Specificity
100 %
Genes
100 %
Vascular Malformations Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

BMPR2, TEK, GLMN, CAV1, KRIT1, ACVRL1, CCM2, ENG, GDF2, KCNK3, SMAD4, PDCD10, PTEN, RASA1
Specificity
8 %
Genes
100 %
CCM2 Gene Sequencing.

By GeneDx (United States).

CCM2
Specificity
100 %
Genes
100 %
Vascular Malformations NGS Multi-Gene Panel (21 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

BMPR2, SOX18, TEK, GLMN, CAV1, KRIT1, ACVRL1, DOCK6, ANTXR1, CCM2, ENG, GDF2, GNAQ, KCNK3, KDR, SMAD4, MAP3K3, PDCD10, PIK3CA, PTEN , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %

You can get up to 39 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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