Cerebral Cavernous Malformations (CCM1)

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OMIM 57 116860 Disease Ontology 12 DOID:0060669 MedGen 42 C2919945 C1861784 C1861785 C1861786 CN042719 more MeSH 44 D020786

KEGG 37 H00534 SNOMED-CT via HPO 69 263681008 199879009 95320005 128613002 246545002 313307000 84757009 91175000 1386000 25064002 17944005 more UMLS 73 C1366911 C1959589 C2931263

NIH Rare Diseases : ⁵³ Cerebral cavernous malformations (CCMs) are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure which lead to altered blood flow. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the central nervous system (the brain and spinal cord). Cavernous malformations in the brain and/or spinal cord are called cerebral cavernous malformations.  Approximately 25 percent of individuals with cerebral cavernous malformations never experience any related medical problems. Other people with cerebral cavernous malformations may experience serious symptoms such as headaches, seizures, paralysis, hearing or vision deficiencies, and bleeding in the brain (cerebral hemorrhage). These malformations can change in size and number over time, but they do not become cancerous. This condition can be sporadic or it can be inherited in an autosomal dominant pattern. Mutations in the KRIT1(CCM1), CCM2, and PDCD10 (CCM3) genes cause cerebral cavernous malformation. Treatment depends upon the symptoms. Seizures are usually treated with antiepileptic medications or surgery.

MalaCards based summary : Cerebral Cavernous Malformations, also known as cerebral cavernous malformation, is related to cerebral cavernous malformations 2 and cerebral cavernous malformations 3. An important gene associated with Cerebral Cavernous Malformations is KRIT1 (KRIT1, Ankyrin Repeat Containing), and among its related pathways/superpathways are AKT Signaling Pathway and Cell adhesion_Plasmin signaling. The drugs Anticholesteremic Agents and Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and endothelial, and related phenotypes are abnormality of the skin and seizures

Disease Ontology : ¹² A vascular anomaly of the central nervous system characterized by dilated blood-filled capillaries lacking structural support.

Genetics Home Reference : ²⁵ Cerebral cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls, and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a result, the blood vessels are prone to leakage, which can cause the health problems related to this condition. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the brain and spinal cord (which are described as cerebral).

OMIM : ⁵⁷ 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 (602089) 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). (116860)

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).

UniProtKB/Swiss-Prot : ⁷⁵ Cerebral cavernous malformations 1: A congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters.

Wikipedia : ⁷⁶ Cavernous hemangioma, also called cavernous angioma, cavernoma, or cerebral cavernous malformation (CCM)... more...

Clinical features from OMIM:

116860

Search NIH Clinical Center for Cerebral Cavernous Malformations

Search GEO for disease gene expression data for Cerebral Cavernous Malformations.