Cerebral Cavernous Malformations; Ccm

Description

Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the central nervous system. Cerebral cavernous angiomas are to be distinguished from cerebral arteriovenous malformations ({106070}, {108010}). CCMs are venous and not demonstrable by arteriography; hence they are referred to as angiographically silent.Capillary hemangiomas (OMIM ) are classified as distinct from vascular malformations in that hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. Hemangiomas develop shortly after birth. In contrast, vascular malformations are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover (Mulliken and Young, 1988). Genetic Heterogeneity of CCMCCM2 (OMIM ) is caused by mutation in the CCM2/malcavernin gene (OMIM ), and CCM3 (OMIM ) is caused by mutation in the PDCD10 gene (OMIM ).Evidence suggests that a 2-hit mechanism involving biallelic germline and somatic mutations is responsible for CCM1 pathogenesis, see PATHOGENESIS and MOLECULAR GENETICS sections.

Clinical Features

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

  • Seizures
  • Muscle weakness
  • Hepatomegaly
  • Congestive heart failure
  • Headache
  • Paralysis
  • Stroke
  • Lower limb muscle weakness
  • Migraine
  • Abnormality of the skin

And another 15 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.

Alternative names

Cerebral Cavernous Malformations; Ccm Is also known as cam, cerebral capillary malformations, cavernous angiomatous malformations, cavernous angioma, familial.

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; Ccm Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KRIT1 (CCM1) Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

KRIT1
Specificity
100 %
Genes
100 %
Complete CCM Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

KRIT1, CCM2, PDCD10
Specificity
34 %
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 %
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 %
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 %
CCM2, KRIT1, PDCD10. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KRIT1, CCM2, PDCD10
Specificity
34 %
Genes
100 %
KRIT1. Detection of the mutation c.1363C>T by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KRIT1
Specificity
100 %
Genes
100 %

You can get up to 44 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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