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Maffucci syndrome

Disease Export to PDF
Name:
Maffucci syndrome
Description:
A rare disorder characterized by multiple enchondromatosis associated with multiple (dark, irregularly shaped) hemangiomas. Less commonly, lymphangiomas are also reported.
ORPHAcode:
163634
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
IDH2
IDH1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Vascular malformations (somatic) (19 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AKT1 0.00 0 exon 3
    AKT2 0.00 0 exon 3
    AKT3 0.00 0 exons 7 and 13
    BRAF 0.00 0 exons 2 and 11 and 15
    GNA11 0.00 0 exons 4 and 5
    GNA14 0.00 0 exon 5
    GNAQ 0.00 0 exons 4 and 5
    HRAS 0.00 0 exons 2 - 4
    IDH1 0.00 0 exon 4
    IDH2 0.00 0 exon 4
    KRAS 0.00 0 exons 2 - 4
    MAP3K3 0.00 0 exon 14
    MAP2K1 0.00 0 exons 2 and 3
    NRAS 0.00 0 exons 2 - 4
    PIK3CA 100.00 0 exons 2 - 21
    PIK3R1 0.00 0 exons 11 - 13
    PIK3R2 0.00 0 exon 10
    PTEN 100.00 0 exons 1 - 9
    TEK 0.00 0 exons 17 and 22 and 23
  • epidermal nevus syndrome (65 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AKT1 0.00 0 Only hotspots in the gene
    ALK 0.00 0 Only hotspots in the gene
    BRAF 0.00 0 Only hotspots in the gene
    CDKN2A 0.00 0 Only hotspots in the gene
    CTNNB1 0.00 0 Only hotspots in the gene
    DDR2 0.00 0 Only hotspots in the gene
    EGFR 0.00 0 Only hotspots in the gene
    ERBB2 0.00 0 Only hotspots in the gene
    ERBB4 0.00 0 Only hotspots in the gene
    FGFR2 0.00 0 Only hotspots in the gene
    FGFR3 0.00 0 Only hotspots in the gene
    H3-3A 0.00 0 Only hotspots in the gene
    H3C2 0.00 0 Only hotspots in the gene
    HRAS 0.00 0 Only hotspots in the gene
    IDH1 0.00 0 Only hotspots in the gene
    IDH2 0.00 0 Only hotspots in the gene
    KIT 0.00 0 Only hotspots in the gene
    KRAS 0.00 0 Only hotspots in the gene
    MAP2K1 0.00 0 Only hotspots in the gene
    MET 0.00 0 Only hotspots in the gene
    NRAS 0.00 0 Only hotspots in the gene
    PDGFRA 0.00 0 Only hotspots in the gene
    PIK3CA 0.00 0 Only hotspots in the gene
    PIK3R1 0.00 0 Only hotspots in the gene
    PTEN 0.00 0 Only hotspots in the gene
    STK11 0.00 0 Only hotspots in the gene