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Megalencephaly-capillary malformation-polymicrogyria syndrome

Disease Export to PDF
Name:
Megalencephaly-capillary malformation-polymicrogyria syndrome
Description:
A rare developmental defect during embryogenesis that is characterized by growth dysregulation with overgrowth of the brain and multiple somatic tissues, with capillary skin malformations, megalencephaly (MEG) or hemimegalencephaly (HMEG), cortical brain abnormalities (in particular polymicrogyria), typical facial dysmorphisms, abnormalities of somatic growth with asymmetry of the body and brain, developmental delay and digital anomalies.
ORPHAcode:
60040
Synonyms:
MCAP
MCM
MCMTC
Macrocephaly-capillary malformation syndrome
Macrocephaly-cutis marmorata telangiectatica congenita syndrome
Megalencephaly-capillary malformation syndrome
Megalencephaly-cutis marmorata telangiectatica congenita syndrome
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
PIK3CA
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Overgrowth (24 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADARB2 100.00 1 NM_018702.4
    AKT1 100.00 1 NM_001014431.2
    AKT3 100.00 1 NM_005465.7
    BRWD3 100.00 1 NM_153252.5
    CDKN1C 100.00 1 NM_001362474.2
    CHD3 100.00 1 NM_001005273.3
    CHD8 100.00 1 NM_001170629.2
    DIS3L2 100.00 1 NM_152383.4
    DNMT3A 100.00 1 NM_175629.2
    EED 100.00 1 NM_003797.5
    EZH2 100.00 1 NM_004456.5
    GPC3 100.00 1 NM_001164617.2
    H1-4 100.00 1 NM_005321.3
    KMT5B 100.00 1 NM_017635.5
    MTOR 100.00 1 NM_004958.4
    NFIX 100.00 1 NM_002501.4
    NSD1 100.00 1 NM_022455.4
    PDGFRB 100.00 1 NM_002609.4
    PIK3CA 100.00 1 NM_006218.4
    PPP2R5C 100.00 1 NM_001161725.1
    PPP2R5D 100.00 1 NM_006245.4
    PTEN 100.00 1 NM_000314.8
    SETD2 100.00 1 NM_014159.6
    TCF20 100.00 1 NM_005650.3