IllnessZerebrale cavernöse Malformation, Differentialdiagnose
Summary
Three or 5 curated single gene sequence analyses according to the clinical suspicion Cerebral cavernous malformation (and/or brain aneurysm)
- (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS +
Gene panel
Informations about the disease
Cerebral cavernous malformations (CCMs) in brain or spinal cord stem from enlarged capillaries lacking ordinary vessel walls and/or intervening brain tissues, in size from millimeters to centimeters. They change size and become more numerous. CCMs are usually symptomatic from the 2nd - 5th decade via headache, hemorrhage, seizures, focussed neurologic signs, whereas nearly half remain symptomless throughout life. Cutaneous vascular lesions may rarely be observed as well. For familial CCM, a causative heterozygous pathogenic variant in either KRIT1, CCM2, or PDCD10 gene is detected in at least 75-97% of affected families. Hence the unconspicuous result does not formally exclude the clinical suspicion.
(Basic diagnostic genes: CCM2, KRIT1, PDCD10; additional genes: -).
Referenz: https://www.ncbi.nlm.nih.gov/books/NBK1293/
- Alias: Familial brain cavernous angioma
- Alias: Familial cerebral cavernoma
- Alias: Hereditary brain cavernous angioma
- Alias: Hereditary cerebral cavernoma
- Alias: Hereditary cerebral cavernous malformation
- Allelic: Hyperkeratotic cutaneous capillary-venous + cerebral capillary malformations (KRIT1)
- Aneurysm, intracranial berry, 12 (THSD1)
- Brain aneurysm [MONDO:0005291] (ANGPTL6)
- Cavernous malformations of CNS + retina (KRIT1)
- Cerebral cavernous malformations-1 (KRIT1)
- Cerebral cavernous malformations-2 (CCM2)
- Cerebral cavernous malformations-3 (PDCD10)
- AD
- Multiple OMIM-Ps
Bioinformatics and clinical interpretation
No text defined