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Classic maple syrup urine disease

Disease Export to PDF
Name:
Classic maple syrup urine disease
Description:
Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.
ORPHAcode:
268145
Synonyms:
Classic BCKD deficiency
Classic MSUD
Classic branched-chain alpha-ketoacid dehydrogenase deficiency
Classic branched-chain ketoaciduria
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
BCKDHA
BCKDHB
DBT
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • 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