MCID: FML158
MIFTS: 5

Familial Hemangioma

Categories: Blood diseases, Cancer diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Familial Hemangioma

MalaCards integrated aliases for Familial Hemangioma:

Name: Familial Hemangioma 53

Classifications:



Summaries for Familial Hemangioma

NINDS : 53 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 : Familial Hemangioma Affiliated tissues include brain and spinal cord.

Related Diseases for Familial Hemangioma

Diseases in the Hemangioma family:

Malignant Hemangioma Acquired Hemangioma
Familial Hemangioma Congenital Hemangioma

Symptoms & Phenotypes for Familial Hemangioma

Drugs & Therapeutics for Familial Hemangioma

Search Clinical Trials , NIH Clinical Center for Familial Hemangioma

Genetic Tests for Familial Hemangioma

Anatomical Context for Familial Hemangioma

MalaCards organs/tissues related to Familial Hemangioma:

40
Brain, Spinal Cord

Publications for Familial Hemangioma

Variations for Familial Hemangioma

Expression for Familial Hemangioma

Search GEO for disease gene expression data for Familial Hemangioma.

Pathways for Familial Hemangioma

GO Terms for Familial Hemangioma

Sources for Familial Hemangioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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