- Diseases
- Autosomal dominant dopa-responsive dystonia
Autosomal dominant dopa-responsive dystonia
Name: |
Autosomal dominant dopa-responsive dystonia
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Description: |
A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.
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ORPHAcode: |
98808
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Synonyms: |
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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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 -
Parkinson (18 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments PRKN 100.00 0 Core gene / NM_004562.2 LRRK2 100.00 0 Core gene / NM_198578.3 PARK7 100.00 0 Core gene / NM_007262.4 SNCA 100.00 0 Core gene / NM_000345.3 PINK1 100.00 0 Core gene / NM_032409.2 VPS35 100.00 0 Core gene / NM_018206.5 ATP13A2 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_022089.3 ATP1A3 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_152296.5 ATP6AP2 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_005765.2 CHCHD2 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_016139.3 DNAJC13 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_015268.3 DNAJC6 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_001256864.1 FBXO7 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_012179.3 PLA2G6 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_003560.3 RAB39B 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_171998.3 SYNJ1 100.00 0 genes that may be associated with an inherited form of disease of Parkinson / NM_003895.3 GBA1 100.00 0 risk factor genes / NM_001005741.2 GCH1 100.00 0 risk factor genes / NM_000161.2