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MEPAN syndrome

Disease Export to PDF
Name:
MEPAN syndrome
Description:
A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared.
ORPHAcode:
508093
Synonyms:
Autosomal recessive childhood-onset dystonia, DYT29 type
Childhood-onset generalized dystonia-optic atrophy syndrome
DYT29
Dystonia 29
Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
MECR
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Dystonia (68 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    PRKRA 93.20 0 NM_003690.4
    ARX 96.10 0 NM_139058.2
    CACNA1B 97.90 0 NM_000718.3
    KMT2B 98.40 0 NM_014727.2
    ADCY5 98.60 0 NM_183357.2
    CIZ1 98.80 0 NM_012127.2
    TH 99.10 0 NM_199292.2
    SMPD1 99.30 0 NM_000543.4
    CP 99.50 0 NM_000096.3
    PRRT2 99.60 0 NM_145239.2
    SUCLG1 99.60 0 NM_003849.3
    PLA2G6 99.70 0 NM_003560.3
    TBCD 99.70 0 NM_005993.4
    ANO3 99.70 0 NM_031418.3
    TOR1A 99.70 0 NM_000113.2
    GCDH 99.90 0 NM_000159.3
    NPC1 99.90 0 NM_000271.4
    FA2H 99.90 0 NM_024306.4
    TAF1 99.90 0 NM_004606.4
    SPR 99.90 0 NM_003124.4
    PTS 100.00 0 NM_000317.2
    DCAF17 100.00 0 NM_025000.3
    ATP7B 100.00 0 NM_000053.3
    SLC39A14 100.00 0 NM_015359.5
    C19ORF12 100.00 0 NM_001031726.3
    RELN 100.00 0 NM_005045.3
    ATM 100.00 0 NM_000051.3
    CACNA1A 100.00 0 NM_002143.2
    CYP27A1 100.00 0 NM_000784.3
    KCTD17 100.00 0 NM_001282684.1
    NKX2-1 100.00 0 NM_001079668.2
    PANK2 100.00 0 NM_153638.3
    VPS13A 100.00 0 NM_033305.2
    COL6A3 100.00 0 NM_004369.3
    ACTB 100.00 0 NM_001101.4
    ARSA 100.00 0 NM_000487.5
    ATP1A3 100.00 0 NM_152296.5
    AUH 100.00 0 NM_001698.2
    BCAP31 100.00 0 NM_001139441.1
    COASY 100.00 0 NM_025233.6
    DDC 100.00 0 NM_000790.3
    DRD2 100.00 0 NM_000795.3
    FTL 100.00 0 NM_000146.3
    GCH1 100.00 0 NM_000161.2
    GLB1 100.00 0 NM_000404.3
    GNAL 100.00 0 NM_001142339.2
    GNAO1 100.00 0 NM_020988.2
    GNB1 100.00 0 NM_002074.4
    HEXA 100.00 0 NM_000520.5
    HEXB 100.00 0 NM_000521.3
    HPRT1 100.00 0 NM_000194.2
    KCNMA1 100.00 0 NM_002247.3
    MECR 100.00 0 NM_016011.4
    MR1 100.00 0 NM_001194999.1
    NPC2 100.00 0 NM_006432.3
    PNKD 100.00 0 NM_015488.4
    SERAC1 100.00 0 NM_032861.3
    SGCE 100.00 0 NM_003919.2
    SLC18A2 100.00 0 NM_003054.4
    SLC19A3 100.00 0 NM_025243.3
    SLC2A1 100.00 0 NM_006516.2
    SLC30A10 100.00 0 NM_018713.2
    SLC6A3 100.00 0 NM_001044.4
    THAP1 100.00 0 NM_018105.2
    TIMM8A 100.00 0 NM_004085.3
    TUBB4A 100.00 0 NM_006087.3
    VAC14 100.00 0 NM_018052.4
    WDR45 100.00 0 NM_007075.3