Cerebral Cavernous Malformations 3; Ccm3

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Cerebral Cavernous Malformations 3; Ccm3

PDCD10

View recommended genes panels

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 Panel complete gene list SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14, RASA1 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 Panel complete gene list BMPR2, SOX18, TEK, GLMN, CAV1, KRIT1, ACVRL1, DOCK6, ANTXR1, CCM2, ENG, GDF2, GNAQ, KCNK3, KDR, SMAD4, MAP3K3, PDCD10, PIK3CA, PTEN, RASA1 Specificity 5 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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