Disorder "Cerebral Cavernous Malformation"
Found 33 records
Disorder information
Disorder name:
Cerebral Cavernous Malformation
Disoder ID:
Synonyms:
familial cavernous angioma, cavernous angiomatous malformations, cerebral capillary malformations
Definition:
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).
Modifier statisitcs
Record:
33
Gene:
21
Variant:
32
Reference:
2
Effect type:
Pleiotropy(29)
,Expressivity(4)
Modifier effect:
Association with lesion counts(16)
,Association with intracerebral hemorrhage(13)
,Risk factor(4)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| KRIT1 | KRIT1:c.879C-G(p.H293Q) | Expressivity | Risk factor | Pedigree analysis | The genetic variations could interfere with the proper CCM1/CCM2/CCM3 protein complex thus explaining the observed clinical variability.more | more |
| KRIT1:rs11542682 | Expressivity | Risk factor | Pedigree analysis | The genetic variations could interfere with the proper CCM1/CCM2/CCM3 protein complex thus explaining the observed clinical variability.more | more | |
| IL6R | IL6R:rs114660934 | Pleiotropy | Association with lesion counts | P=0.004 | These results suggest that polymorphisms in inflammatory and immune response pathways contribute to variability in CCM1 disease severity and might be used as predictors of disease severity.more | more |
| IL5 | IL5:rs10072700 | Pleiotropy | Association with lesion counts | P=0.017 | These results suggest that polymorphisms in inflammatory and immune response pathways contribute to variability in CCM1 disease severity and might be used as predictors of disease severity.more | more |
| IL4 | IL4:rs194395 | Pleiotropy | Association with lesion counts | P=0.016 | These results suggest that polymorphisms in inflammatory and immune response pathways contribute to variability in CCM1 disease severity and might be used as predictors of disease severity.more | more |
| IL4:rs9327638 | Pleiotropy | Association with intracerebral hemorrhage | P=0.008 | These results suggest that polymorphisms in inflammatory and immune response pathways contribute to variability in CCM1 disease severity and might be used as predictors of disease severity.more | more | |
| IL1RN | IL1RN:rs315947 | Pleiotropy | Association with intracerebral hemorrhage | P=0.004 | These results suggest that polymorphisms in inflammatory and immune response pathways contribute to variability in CCM1 disease severity and might be used as predictors of disease severity.more | more |
| IL1RN:rs928940 | Pleiotropy | Association with intracerebral hemorrhage | P=0.005 | These results suggest that polymorphisms in inflammatory and immune response pathways contribute to variability in CCM1 disease severity and might be used as predictors of disease severity.more | more | |
| IL18R1 | IL18R1:rs3732126 | Pleiotropy | Association with lesion counts | P=0.016 | These results suggest that polymorphisms in inflammatory and immune response pathways contribute to variability in CCM1 disease severity and might be used as predictors of disease severity.more | more |
| IL12RB1 | IL12RB1:rs374326 | Pleiotropy | Association with lesion counts | P=0.016 | These results suggest that polymorphisms in inflammatory and immune response pathways contribute to variability in CCM1 disease severity and might be used as predictors of disease severity.more | more |