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Dopa-responsive dystonia due to sepiapterin reductase deficiency

Disease Export to PDF
Name:
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Description:
Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.
ORPHAcode:
70594
Synonyms:
Autosomal recessive sepiapterin reductase-deficient DRD
DRD due to SRD
SPR deficiency
Sepiapterin reductase deficiency
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
SPR
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