- Diseases
- MEPAN syndrome
MEPAN syndrome
Name: |
MEPAN syndrome
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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.
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ORPHAcode: |
508093
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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
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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 (86 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ARX 93.36 0 NM_139058.3 CACNA1B 98.50 0 NM_000718.4 KMT2B 98.89 0 NM_014727.3 ADCY5 99.21 0 NM_183357.3 TBCD 99.45 0 NM_005993.5 SMPD1 99.65 0 NM_000543.5 FA2H 99.79 0 NM_024306.5 SUCLG1 99.81 0 NM_003849.4 PRKRA 99.85 0 NM_003690.5 ATN1 99.86 0 NM_001007026.2 AOPEP 99.89 0 NM_001193329.3 TH 99.91 0 NM_199292.3 VAC14 99.91 0 NM_018052.5 TAF1 99.92 0 NM_004606.5 CIZ1 99.92 0 NM_012127.3 NKX2-1 99.92 0 NM_001079668.3 PANK2 99.95 0 NM_153638.4 TOR1A 99.95 0 NM_000113.3 ATM 99.95 0 NM_000051.4 VPS16 99.96 0 NM_022575.4 GCDH 99.96 0 NM_000159.4 MECR 99.97 0 NM_016011.5 NPC1 99.97 0 NM_000271.5 KCNMA1 99.97 0 NM_002247.4 SCN8A 99.97 0 NM_014191.4 PLA2G6 99.97 0 NM_003560.4 ANO3 99.98 0 NM_031418.4 HPRT1 99.98 0 NM_000194.3 RELN 99.98 0 NM_005045.4 SPR 99.98 0 NM_003124.5 GM2A 99.98 0 NM_000405.5 ACTB 99.98 0 NM_001101.5 SLC20A2 99.98 0 NM_006749.5 CP 99.98 0 NM_000096.4 EIF2AK2 99.98 0 NM_001135651.3 GLB1 99.98 0 NM_000404.4 WDR45 99.99 0 NM_007075.4 VPS13A 99.99 0 NM_033305.3 PNKD 99.99 0 NM_015488.5 CLN3 99.99 0 NM_001042432.2 SLC2A1 99.99 0 NM_006516.4 CACNA1A 99.99 0 NM_001127221.2 FTL 99.99 0 NM_000146.4 HPCA 99.99 0 NM_002143.3 SLC18A2 99.99 0 NM_003054.6 PRRT2 99.99 0 NM_145239.3 DCAF17 99.99 0 NM_025000.4 MMUT 99.99 0 NM_000255.4 GNB1 99.99 0 NM_002074.5 COL6A3 99.99 0 NM_004369.4 PTS 99.99 0 NM_000317.3 NR4A2 99.99 0 NM_006186.4 HEXB 99.99 0 NM_000521.4 SLC6A3 99.99 0 NM_001044.5 SLC30A10 99.99 0 NM_018713.3 GNAL 99.99 0 NM_001142339.3 GCH1 100.00 0 NM_000161.3 BCAP31 100.00 0 NM_001139441.1 SLC6A19 100.00 0 NM_001003841.3 VPS41 100.00 0 NM_014396.4 COQ8A 100.00 0 NM_020247.5 KCTD17 100.00 0 NM_001282684.2 ATP1A3 100.00 0 NM_152296.5 RHOBTB2 100.00 0 NM_001160036.2 GNAO1 100.00 0 NM_020988.3 ATP7B 100.00 0 NM_000053.4 SLC39A14 100.00 0 NM_015359.6 PPP2R5D 100.00 0 NM_006245.4 ARSA 100.00 0 NM_000487.6 AUH 100.00 0 NM_001698.3 C19ORF12 100.00 0 NM_001031726.4 COASY 100.00 0 NM_025233.7 CYP27A1 100.00 0 NM_000784.4 DDC 100.00 0 NM_000790.4 DRD2 100.00 0 NM_000795.4 HEXA 100.00 0 NM_000520.6 KCNA1 100.00 0 NM_000217.3 MR1 100.00 0 NM_001194999.2 NPC2 100.00 0 NM_006432.5 SERAC1 100.00 0 NM_032861.4 SGCE 100.00 0 NM_003919.3 SLC19A3 100.00 0 NM_025243.4 THAP1 100.00 0 NM_018105.3 TIMM8A 100.00 0 NM_004085.4 TUBB4A 100.00 0 NM_006087.4 WARS2 100.00 0 NM_015836.4