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).
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.
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
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TETRALOGY OF FALLOT; TOF JOUBERT SYNDROME 33; JBTS33 JACOBSEN SYNDROME; JBS HEPATOERYTHROPOIETIC PORPHYRIA BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5 SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT; SPG12 NEUROPATHY, PAINFUL