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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessZerebrale cavernöse Malformation, Differentialdiagnose


Short information

A comprehensive panel containing 3 core candidate genes and altogether 5 curated single gene sequence analyses according to the clinical suspicion Cerebral cavernous malformation [and/or brain aneurysm]

Number of genes
3 Accredited laboratory test
Examined sequence length
4,2 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity

Informations about the disease

Clinical Comment

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)
Heredity, heredity patterns etc.
  • AD
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined