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Menkes disease

Disease Export to PDF
Name:
Menkes disease
Description:
A rare congenital disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by progressive neurodegeneration and marked connective tissue anomalies. A pathognomonic feature is the typical sparse, abnormal steely hair.
ORPHAcode:
565
Synonyms:
MD
Menkes kinky hair disease
Menkes syndrome
XREF(s):
Orphanet
MedDRA
OMIM
ICD-10
Analyte(s):
ATP7A
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
  • Neuropathy (148 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 1 NM_001605.3
    ABHD12 100.00 1 NM_001042472.3
    AIFM1 100.00 1 NM_004208.4
    APTX 100.00 1 NM_001195248.2
    ARHGEF10 100.00 1 NM_014629.4
    ATL1 100.00 1 NM_015915.5
    ATP1A1 100.00 1 NM_000701.8
    ATP7A 100.00 1 NM_000052.7
    BICD2 100.00 1 NM_001003800.2
    BSCL2 100.00 1 NM_001122955.3
    MTRFR 100.00 1 NM_152269.5
    COX6A1 100.00 1 NM_004373.4
    CTDP1 100.00 1 NM_004715.5
    DCTN1 100.00 1 NM_004082.4
    DHTKD1 100.00 1 NM_018706.7
    DNAJB2 100.00 1 NM_006736.6
    DNM2 100.00 1 NM_001005361.3
    DNMT1 99.93 1 NM_001130823.3
    DST 100.00 1 NM_001144770.2
    DYNC1H1 100.00 1 NM_001376.5
    EGR2 100.00 1 NM_000399.5
    ELP1 100.00 1 NM_003640.5
    FBLN5 100.00 1 NM_006329.3
    FBXO38 100.00 1 NM_205836.3
    FGD4 100.00 1 NM_001304480.1
    FIG4 100.00 1 NM_014845.6
    GAN 100.00 1 NM_022041.3
    GARS1 100.00 1 NM_002047.4
    GDAP1 100.00 1 NM_018972.4
    GJB1 100.00 1 NM_000166.6
    GJB3 100.00 1 NM_024009.3
    GNB4 100.00 1 NM_021629.4
    HARS1 100.00 1 NM_002109.6
    HINT1 100.00 1 NM_005340.7
    HK1 100.00 1 NM_001358263.1
    HOXD10 100.00 1 NM_002148.4
    HSPB1 100.00 1 NM_001540.5
    HSPB3 100.00 1 NM_006308.3
    HSPB8 100.00 1 NM_014365.3
    IFRD1 100.00 1 NM_001007245.2
    IGHMBP2 100.00 1 NM_002180.3
    INF2 99.00 1 NM_022489.4
    KARS1 100.00 1 NM_001130089.1
    KIF1A 100.00 1 NM_001244008.1
    KIF1B 100.00 1 NM_015074.3
    KIF5A 100.00 1 NM_004984.4
    LITAF 100.00 1 NM_001136472.1
    LMNA 100.00 1 NM_170707.4
    LRSAM1 100.00 1 NM_001005373.3
    MARS1 100.00 1 NM_004990.4
    MED25 100.00 1 NM_030973.3
    MFN2 100.00 1 NM_014874.4
    MME 100.00 1 NM_007289.4
    MORC2 100.00 1 NM_001303256.3
    MPZ 100.00 1 NM_000530.8
    MTMR2 100.00 1 NM_016156.6
    MYH14 100.00 1 NM_001145809.2
    NAGLU 100.00 1 NM_000263.4
    NDRG1 100.00 1 NM_006096.4
    NEFH 100.00 1 NM_021076.4
    NEFL 100.00 1 NM_006158.5
    NGF 100.00 1 NM_002506.3
    NTRK1 100.00 1 NM_002529.3
    PDK3 100.00 1 NM_001142386.3
    PEX1 100.00 1 NM_000466.3
    PEX7 100.00 1 NM_000288.4
    PHYH 100.00 1 NM_006214.4
    PLEKHG5 100.00 1 NM_001265592.1
    PMP22 100.00 1 NM_000304.4
    POLG 100.00 1 NM_001126131.2
    PRDM12 98.36 1 NM_021619.3
    PRPS1 100.00 1 NM_002764.4
    PRX 100.00 1 NM_181882.3
    RAB7A 100.00 1 NM_004637.6
    REEP1 100.00 1 NM_001371279.1
    RETREG1 100.00 1 NM_001034850.2
    SBF1 100.00 1 NM_002972.4
    SBF2 100.00 1 NM_030962.3
    SCN11A 100.00 1 NM_001349253.2
    SCN9A 100.00 1 NM_001365536.1
    SCO2 100.00 1 NM_005138.3
    SETX 100.00 1 NM_015046.7
    SH3TC2 100.00 1 NM_024577.4
    SLC12A6 100.00 1 NM_001365088.1
    SLC5A7 100.00 1 NM_021815.5
    SOX10 100.00 1 NM_006941.4
    SPG11 100.00 1 NM_025137.4
    SPTLC1 100.00 1 NM_006415.4
    SPTLC2 100.00 1 NM_004863.3
    TDP1 100.00 1 NM_018319.4
    TECPR2 100.00 1 NM_014844.5
    TFG 100.00 1 NM_006070.6
    TRIM2 100.00 1 NM_015271.5
    TRPV4 100.00 1 NM_021625.5
    TTR 100.00 1 NM_000371.4
    TUBB3 100.00 1 NM_006086.4
    TYMP 100.00 1 NM_001257989.1
    VCP 100.00 1 NM_007126.5
    WNK1 100.00 1 NM_018979.4
    YARS1 100.00 1 NM_003680.3
    AAAS 100.00 1 NM_015665.6
    ALS2 100.00 1 NM_020919.4
    ANG 100.00 1 NM_001145.4
    ANXA11 100.00 1 NM_145868.2
    ATL3 100.00 1 NM_015459.5
    CNTNAP1 100.00 1 NM_003632.3
    COA8 100.00 1 NM_001370595.1
    COL4A1 100.00 1 NM_001845.6
    DCAF8 100.00 1 NM_015726.4
    DCX 100.00 1 NM_001195553.2
    ERBB4 100.00 1 NM_005235.3
    FUS 100.00 1 NM_004960.4
    GBF1 100.00 1 NM_004193.3
    GCH1 100.00 1 NM_000161.3
    GLA 100.00 1 NM_000169.3
    HTRA1 100.00 1 NM_002775.5
    KLC2 100.00 1 NM_001134775.1
    MATR3 100.00 1 NM_018834.6
    MCM3AP 100.00 1 NM_003906.5
    MPV17 100.00 1 NM_002437.5
    NEK1 100.00 1 NM_001199397.3
    NFASC 100.00 1 NM_001005388.2
    OPTN 100.00 1 NM_001008212.2
    PDXK 100.00 1 NM_003681.5
    PFN1 100.00 1 NM_005022.4
    PMP2 100.00 1 NM_002677.5
    PNKP 100.00 1 NM_007254.4
    PRPH 100.00 1 NM_006262.4
    PTRH2 100.00 1 NM_016077.5
    SCN10A 100.00 1 NM_006514.3
    SEPTIN9 100.00 1 NM_001113491.2
    SGPL1 100.00 1 NM_003901.4
    SIGMAR1 100.00 1 NM_005866.4
    SLC25A46 100.00 1 NM_138773.4
    SMN1 6.96 1 NM_000344.3
    SOD1 100.00 1 NM_000454.5
    SORD 94.98 1 NM_003104.6
    SQSTM1 100.00 1 NM_003900.5
    SURF1 100.00 1 NM_003172.4
    SYT2 100.00 1 NM_177402.5
    TARDBP 100.00 1 NM_007375.4
    TIA1 100.00 1 NM_022173.4
    TRPA1 100.00 1 NM_007332.3
    TUBA1A 100.00 1 NM_006009.4
    TUBA4A 100.00 1 NM_006000.3
    UBQLN2 100.00 1 NM_013444.3
    VAPB 100.00 1 NM_004738.5
    WARS1 100.00 1 NM_004184.4