Cerebral Cavernous Malformations 3; Ccm3

Clinical Features

Phenotypes and symptoms related to Cerebral Cavernous Malformations 3; Ccm3

  • Seizures
  • Headache
  • Paralysis
  • Cerebral hemorrhage
  • Abnormality of the cerebrum

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 3; Ccm3 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 %
PDCD10 (CCM3) Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

PDCD10
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 %
PDCD10.

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

PDCD10
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 %
PDCD10 Gene Sequencing.

By GeneDx (United States).

PDCD10
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 36 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

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