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Results: 4

1.

Cerebral Cavernous Malformation

A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur. [from NCI]

MedGen UID:
418825
Concept ID:
C2919945
Anatomical Abnormality
2.

Cavernous malformations of CNS and retina

MedGen UID:
349363
Concept ID:
C1861785
Disease or Syndrome
3.

Cerebral cavernous malformation

Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person’s age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with CCM remain symptom free throughout their lives. Familial cerebral cavernous malformation (FCCM) is defined as the occurrence of CCMs in at least two family members and/or the presence of multiple CCMs and/or the presence of a disease-causing mutation in one of the three genes in which mutations are known to cause familial CCM. Cutaneous vascular lesions are found in 9% of those with FCCM and retinal vascular lesions in almost 5%. [from GeneReviews]

MedGen UID:
349362
Concept ID:
C1861784
Disease or Syndrome
4.

Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations

MedGen UID:
348451
Concept ID:
C1861786
Disease or Syndrome

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