MCID: CNG172
MIFTS: 5

Congenital Vascular Cavernous Malformations

Categories: Blood diseases, Cardiovascular diseases, Neuronal diseases

Aliases & Classifications for Congenital Vascular Cavernous Malformations

MalaCards integrated aliases for Congenital Vascular Cavernous Malformations:

Name: Congenital Vascular Cavernous Malformations 54

Classifications:



Summaries for Congenital Vascular Cavernous Malformations

NINDS : 54 Cerebral cavernous malformations (CCMs) are vascular lesions comprised of clusters of tightly packed, abnormally thin-walled small blood vessels (capillaries) that displace normal neurological tissue in the brain or spinal cord. The vessels are filled with slow-moving or stagnant blood that is usually clotted or in a state of decomposition. Cavernous malformations can occur in the brain, spinal cord, and some other body regions. In the brain and spinal cord these cavernous lesions are quite fragile and are prone to bleeding, causing hemorrhagic strokes (bleeding into the brain), seizures, and neurological deficits. CCMs can range in size from a few fractions of an inch to several inches in diameter, depending on the number of blood vessels involved. Some people develop multiple lesions while others never experience related medical problems. Hereditary forms of CCM are caused by mutations in one of three CCM disease genes: CCM1, CCM2, and CCM3. A large population with hereditary CCM disease is found in New Mexico and the Southwestern United States, in which the disease is caused by mutations in the gene CCM1 (or KRIT1).

MalaCards based summary : Congenital Vascular Cavernous Malformations Affiliated tissues include brain and spinal cord.

Related Diseases for Congenital Vascular Cavernous Malformations

Symptoms & Phenotypes for Congenital Vascular Cavernous Malformations

Drugs & Therapeutics for Congenital Vascular Cavernous Malformations

Search Clinical Trials , NIH Clinical Center for Congenital Vascular Cavernous Malformations

Genetic Tests for Congenital Vascular Cavernous Malformations

Anatomical Context for Congenital Vascular Cavernous Malformations

MalaCards organs/tissues related to Congenital Vascular Cavernous Malformations:

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Brain, Spinal Cord

Publications for Congenital Vascular Cavernous Malformations

Variations for Congenital Vascular Cavernous Malformations

Expression for Congenital Vascular Cavernous Malformations

Search GEO for disease gene expression data for Congenital Vascular Cavernous Malformations.

Pathways for Congenital Vascular Cavernous Malformations

GO Terms for Congenital Vascular Cavernous Malformations

Sources for Congenital Vascular Cavernous Malformations

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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