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Noonan syndrome-like disorder with loose anagen hair

Disease Export to PDF
Name:
Noonan syndrome-like disorder with loose anagen hair
Description:
A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or ichtyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed.
ORPHAcode:
2701
Synonyms:
Mazzanti syndrome
NS/LAH
XREF(s):
Orphanet
ICD-10
OMIM
OMIM
Analyte(s):
PPP1CB
SHOC2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • RASopathy - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    A2ML1 95.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range
    BRAF 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    CBL 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    HRAS 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    KRAS 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    LZTR1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    MAP2K1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    MAP2K2 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    MRAS 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    NRAS 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    PPP1CB 95.00 0 core gene +% of coding sequence represents the minimum CS1 interpretable range
    PTPN11 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    RAF1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    RASA1 95.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range
    RASA2 95.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range
    RIT1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    RRAS 80.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range
    RRAS2 95.00 0 research gene + % of coding sequence represents the minimum CS1 interpretable range
    SHOC2 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    SOS1 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
    SOS2 95.00 0 core gene + % of coding sequence represents the minimum CS1 interpretable range
  • Short Stature (46 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACAN 90.00 1 NM_001369268.1
    ANKRD11 100.00 1 NM_013275.6
    BRAF 100.00 1 NM_001354609.2
    BTK 100.00 1 NM_000061.3
    CBL 100.00 1 NM_005188.4
    CCDC8 100.00 1 NM_032040.5
    CREBBP 100.00 1 NM_004380.3
    CUL7 100.00 1 NM_014780.5
    DHCR7 100.00 1 NM_001360.3
    DVL1 100.00 1 NM_001330311.2
    EP300 100.00 1 NM_001429.4
    FGD1 100.00 1 NM_004463.3
    FGFR3 100.00 1 NM_001163213.1
    GH1 100.00 1 NM_000515.5
    GHR 100.00 1 NM_000163.5
    GHRHR 100.00 1 NM_000823.4
    GHSR 100.00 1 NM_198407.2
    HRAS 100.00 1 NM_005343.4
    IGF1 100.00 1 NM_000618.5
    IGF1R 100.00 1 NM_000875.5
    IGF2 100.00 1 NM_000612.6
    IGFALS 100.00 1 NM_004970.3
    KDM6A 100.00 1 NM_001291415.2
    KMT2D 100.00 1 NM_003482.3
    KRAS 100.00 1 NM_033360.4
    NPPC 100.00 1 NM_024409.4
    NPR2 100.00 1 NM_003995.3
    NPR3 100.00 1 NM_001204375.2
    NRAS 100.00 1 NM_002524.5
    OBSL1 100.00 1 NM_015311.3
    PIK3R1 100.00 1 NM_181523.3
    POU1F1 100.00 1 NM_000306.4
    PTPN11 100.00 1 NM_002834.5
    RAF1 100.00 1 NM_001354689.3
    RASA2 100.00 1 NM_006506.5
    RIT1 100.00 1 NM_006912.6
    ROR2 100.00 1 NM_004560.4
    RPS6KA3 100.00 1 NM_004586.3
    SHOC2 100.00 1 NM_007373.4
    SHOX 100.00 1 NM_000451.3
    SOS1 100.00 1 NM_005633.3
    SOX3 100.00 1 NM_005634.2
    SRCAP 100.00 1 NM_006662.3
    STAT5B 100.00 1 NM_012448.4
    TRIM37 100.00 1 NM_015294.6
    WNT5A 100.00 1 NM_003392.4