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  2. Monilethrix

Monilethrix

Disease Export to PDF
Name:
Monilethrix
Description:
A rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.
ORPHAcode:
573
Synonyms:
Moniliform hair syndrome
XREF(s):
Orphanet
OMIM
MeSH
ICD-10
Analyte(s):
KRT86
KRT83
KRT81
DSG4
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Epidermolysis bullosa and bladder diseases (60 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADAMTS2 95.00 0 NM_014244.5/ interpretable range CS1>95%
    ATP2A2 95.00 0 NM_001681.4/ interpretable range CS1>95%
    ATP2C1 95.00 0 NM_014382.5/ interpretable range CS1>95%
    CAST 95.00 0 NM_001042440.5/ interpretable range CS1>95%
    CD151 95.00 0 NM_004357.5/ interpretable range CS1>95%
    CDSN 95.00 0 NM_001264.5/ interpretable range CS1>95%
    CHST14 95.00 0 NM_130468.4/ interpretable range CS1>95%
    CHST8 95.00 0 NM_001127896.2/ interpretable range CS1>95%
    COL17A1 95.00 0 NM_000494.4/ interpretable range CS1>95%
    COL5A1 95.00 0 NM_000093.5/ interpretable range CS1>95%
    COL5A2 95.00 0 NM_000393.5/ interpretable range CS1>95%
    COL7A1 95.00 0 NM_000094.4/ interpretable range CS1>95%
    CSTA 95.00 0 NM_005213.4/ interpretable range CS1>95%
    CSTB 95.00 0 NM_000100.4/ interpretable range CS1>95%
    DSC3 95.00 0 NM_024423.4/ interpretable range CS1>95%
    DSG1 95.00 0 NM_001942.4/ interpretable range CS1>95%
    DSG2 95.00 0 NM_001943.5/ interpretable range CS1>95%
    DSG3 95.00 0 NM_001944.3/ interpretable range CS1>95%
    DSG4 95.00 0 NM_177986.5/ interpretable range CS1>95%
    DSP 95.00 0 NM_004415.4/ interpretable range CS1>95%
    DST 95.00 0 NM_001723.7/ interpretable range CS1>95%
    EXPH5 95.00 0 NM_015065.3/ interpretable range CS1>95%
    FERMT1 95.00 0 NM_017671.5/ interpretable range CS1>95%
    FLG2 95.00 0 NM_001014342.3/ interpretable range CS1>95%
    GJB2 95.00 0 NM_004004.6/ interpretable range CS1>95%
    GRIP1 95.00 0 NM_021150.4/ interpretable range CS1>95%
    IKBKG 95.00 0 NM_001099857.5/ interpretable range CS1>95%
    ITGA3 95.00 0 NM_002204.4/ interpretable range CS1>95%
    ITGA6 95.00 0 NM_000210.4/ interpretable range CS1>95%
    ITGB4 95.00 0 NM_001005731.3/ interpretable range CS1>95%
    JUP 95.00 0 NM_002230.4/ interpretable range CS1>95%
    KLHL24 95.00 0 NM_017644.3/ interpretable range CS1>95%
    KRT1 95.00 0 NM_006121.4/ interpretable range CS1>95%
    KRT10 95.00 0 NM_000421.5/ interpretable range CS1>95%
    KRT14 95.00 0 NM_000526.5/ interpretable range CS1>95%
    KRT16 95.00 0 NM_005557.4/ interpretable range CS1>95%
    KRT17 95.00 0 NM_000422.3/ interpretable range CS1>95%
    KRT2 95.00 0 NM_000423.3/ interpretable range CS1>95%
    KRT5 95.00 0 NM_000424.4/ interpretable range CS1>95%
    KRT6A 95.00 0 NM_005554.4/ interpretable range CS1>95%
    KRT6B 95.00 0 NM_005555.4/ interpretable range CS1>95%
    KRT6C 95.00 0 NM_173086.5/ interpretable range CS1>95%
    KRT9 95.00 0 NM_000226.4/ interpretable range CS1>95%
    LAMA3 95.00 0 NM_000227.6/ interpretable range CS1>95%
    LAMB3 95.00 0 NM_000228.3/ interpretable range CS1>95%
    LAMC2 95.00 0 NM_005562.3/ interpretable range CS1>95%
    MMP1 95.00 0 NM_002421.4/ interpretable range CS1>95%
    NID1 95.00 0 NM_002508.3/ interpretable range CS1>95%
    PKP1 95.00 0 NM_001005337.3/ interpretable range CS1>95%
    PLEC 95.00 0 NM_000445.5/ interpretable range CS1>95%
    PLOD3 95.00 0 NM_001084.5/ interpretable range CS1>95%
    SERPINB8 95.00 0 NM_198833.2/ interpretable range CS1>95%
    SLC39A4 95.00 0 NM_130849.4/ interpretable range CS1>95%
    SPINK5 95.00 0 NM_006846.4/ interpretable range CS1>95%
    TGM5 95.00 0 NM_201631.4/ interpretable range CS1>95%
    TP63 95.00 0 NM_003722.5/ interpretable range CS1>95%
    UROD 95.00 0 NM_000374.5/ interpretable range CS1>95%
    UROS 95.00 0 NM_000375.3/ interpretable range CS1>95%
    WNT10A 95.00 0 NM_025216.3/ interpretable range CS1>95%
  • Ichthyosis and erythroderma (98 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA12 95.00 0 NM_173076.3
    ABHD5 95.00 0 NM_016006.6
    ADAM17 95.00 0 NM_003183.6
    ALDH3A2 95.00 0 NM_000382.3
    ALOX12B 95.00 0 NM_001139.3
    ALOXE3 95.00 0 NM_021628.3
    AP1B1 95.00 0 NM_001127.4
    AP1S1 95.00 0 NM_001283.5
    ASPRV1 95.00 0 NM_152792.4
    ASS1 95.00 0 NM_000050.4
    ATP7A 95.00 0 NM_000052.7
    BCKDHA 95.00 0 NM_000709.4
    BCKDHB 95.00 0 NM_183050.4
    BTD 95.00 0 NM_001370658.1
    BTK 95.00 0 NM_000061.3
    CAPN12 95.00 0 NM_144691.4
    CARD14 95.00 0 NM_024110.4
    CASP14 95.00 0 NM_012114.3
    CAST 95.00 0 NM_001042440.5
    CDSN 95.00 0 NM_001264.5
    CERS3 95.00 0 NM_178842.5
    CHST8 95.00 0 NM_001127896.2
    CLDN1 95.00 0 NM_021101.5
    CPS1 95.00 0 NM_001875.5
    CSTA 95.00 0 NM_005213.4
    CTSB 95.00 0 NM_001908.5
    CYP4F22 95.00 0 NM_173483.4
    DBT 95.00 0 NM_001918.5
    DCLRE1C 95.00 0 NM_001033855.3
    DLD 95.00 0 NM_000108.5
    DSG1 95.00 0 NM_001942.4
    EBP 95.00 0 NM_006579.3
    ELOVL1 95.00 0 NM_001256399.2
    ELOVL4 95.00 0 NM_022726.4
    ERCC2 95.00 0 NM_000400.4
    ERCC3 95.00 0 NM_000122.2
    FLG 95.00 0 NM_002016.2
    FLG2 95.00 0 NM_001014342.3
    GBA1 95.00 0 NM_001005741.3
    GJA1 95.00 0 NM_000165.5
    GJB2 95.00 0 NM_004004.6
    GJB3 95.00 0 NM_024009.3
    GJB4 95.00 0 NM_153212.3
    GJB6 95.00 0 NM_006783.5
    GTF2E2 95.00 0 NM_002095.6
    GTF2H5 95.00 0 NM_207118.3
    HLCS 95.00 0 NM_000411.8
    IL36RN 95.00 0 NM_012275.3
    KDSR 95.00 0 NM_002035.4
    KIT 95.00 0 NM_000222.3
    KRT1 95.00 0 NM_006121.4
    KRT10 95.00 0 NM_000421.5
    KRT14 95.00 0 NM_000526.5
    KRT16 95.00 0 NM_005557.4
    KRT2 95.00 0 NM_000423.3
    KRT5 95.00 0 NM_000424.4
    KRT6C 95.00 0 NM_173086.5
    KRT83 95.00 0 NM_002282.3
    KRT9 95.00 0 NM_000226.4
    LIPN 95.00 0 NM_001102469.2
    LORICRIN 95.00 0 NM_000427.3
    MBTPS2 95.00 0 NM_015884.4
    MPLKIP 95.00 0 NM_138701.4
    MMUT 95.00 0 NM_000255.4
    NIPAL4 95.00 0 NM_001099287.2
    NSDHL 95.00 0 NM_015922.3
    PCCA 95.00 0 NM_000282.4
    PCCB 95.00 0 NM_000532.5
    PERP 95.00 0 NM_022121.5
    PEX7 95.00 0 NM_000288.4
    PHYH 95.00 0 NM_006214.4
    PIGL 95.00 0 NM_004278.4
    PNPLA1 95.00 0 NM_001145717.1
    POMP 95.00 0 NM_015932.6
    RAG1 95.00 0 NM_000448.3
    RAG2 95.00 0 NM_000536.4
    RNF113A 95.00 0 NM_006978.3
    SDR9C7 95.00 0 NM_148897.3
    SERPINB7 95.00 0 NM_003784.4
    SERPINB8 95.00 0 NM_198833.2
    SGPL1 95.00 0 NM_003901.4
    SLC25A13 95.00 0 NM_014251.3
    SLC27A4 95.00 0 NM_005094.4
    SLC30A2 95.00 0 NM_001004434.3
    SLC39A4 95.00 0 NM_130849.4
    SNAP29 95.00 0 NM_004782.4
    SPINK5 95.00 0 NM_006846.4
    SREBF1 95.00 0 NM_004176.5
    ST14 95.00 0 NM_021978.4
    STS 95.00 0 NM_000351.7
    SULT2B1 95.00 0 NM_177973.2
    SUMF1 95.00 0 NM_182760.4
    TBX1 95.00 0 NM_080647.1
    TGM1 95.00 0 NM_000359.3
    TGM5 95.00 0 NM_201631.4
    TRPM4 95.00 0 NM_017636.4
    VIPAS39 95.00 0 NM_022067.4
    VPS33B 95.00 0 NM_018668.5