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Familial cerebral cavernous malformation

Disease Export to PDF
Name:
Familial cerebral cavernous malformation
Description:
A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.
ORPHAcode:
221061
Synonyms:
Familial brain cavernous angioma
Familial cerebral cavernoma
Hereditary brain cavernous angioma
Hereditary cerebral cavernoma
Hereditary cerebral cavernous malformation
XREF(s):
Orphanet
OMIM
OMIM
OMIM
ICD-10
OMIM
Analyte(s):
CCM2
KRIT1
PDCD10
PIK3CA
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Cerebral cavernous malformation (3 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    KRIT1 100.00 1 Part of constitutional vascular panel
    CCM2 100.00 1 Part of constitutional vascular panel
    PDCD10 100.00 1 Part of constitutional vascular panel
  • Vascular malformations (germline) (38 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    KRIT1 100.00 1 exons 5 - 20
    CCM2 100.00 1 exons 1 - 10
    PDCD10 100.00 1 exons 3 - 9
    RASA1 100.00 1 exons 1-25
    EPHB4 100.00 1 exons 1-17
    STAMBP 100.00 1 exons 3-11
    PTEN 100.00 1 exons 1-9
    ACVRL1 100.00 1 exons 2-10
    ENG 100.00 1 exons 1-15
    SMAD4 100.00 1 exons 2-12
    GDF2 100.00 1 exons 1-2
    TEK 100.00 1 exons 1-23
    GLMN 100.00 1 exons 2-19
    ANGPT2 100.00 1 exons 1-9
    CCBE1 100.00 1 exons 1-11
    CDC42 100.00 1 exons 2-6
    FAT4 100.00 1 exons 1-17
    FLT4 100.00 1 exons 1-30
    FOXC2 100.00 1 exon 1
    GATA2 100.00 1 exons 3-7
    GJA1 100.00 1 exon 2
    GJC2 100.00 1 exon 2
    HGF 100.00 1 exons 1-18
    HRAS 100.00 1 exons 2-5
    IKBKG 100.00 1 exons 1-10
    ITGA9 100.00 1 exons 1-28
    KIF11 100.00 1 exons 1-22
    KRAS 100.00 1 exons 1-5
    NRAS 100.00 1 exons 2-5
    PIEZO1 100.00 1 exons 1-51
    PTPN11 100.00 1 exons 1-15
    PTPN14 100.00 1 exons 2-19
    RAF1 100.00 1 exons 2-17
    SOS1 100.00 1 exons 1-23
    SOX18 100.00 1 exons 1-2
    TSC1 100.00 1 exons 3-23
    TSC2 100.00 1 exons 1-42
    VEGFC 100.00 1 exons 2-7