Belgian Genetic Tests database- Diseases
- Fatal familial insomnia
Fatal familial insomnia
| Name: |
Fatal familial insomnia
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| Description: |
A rare inherited human prion disease characterized by adult onset of progressive disturbance and loss of circadian rhythms, dysautonomia with increased sympathetic activity, and cognitive impairment with fluctuating vigilance, impaired long-term memory, disorientation, and oneiric states. Motor disturbances include myoclonus, cerebellar ataxia, and pyramidal signs. The disease rapidly leads to a somnolent or comatose state and is typically fatal after 9 or 30 months on average (bimodal course). Neuropathologic examination shows marked neuronal loss and gliosis predominantly in thalamic nuclei and inferior olives, while deposition of abnormal prion protein may be relatively sparse.
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| ORPHAcode: |
466
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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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Neurodegeneration (99 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ANG 100.00 1 NM_001145.4 ANXA11 100.00 1 NM_145868.2 APP 100.00 1 NM_000484.4 ATP13A2 100.00 1 NM_022089.4 CHMP2B 100.00 1 NM_014043.4 DCTN1 100.00 1 NM_004082.4 ERBB4 100.00 1 NM_005235.3 FIG4 100.00 1 NM_014845.6 FUS 100.00 1 NM_004960.4 GBA1 100.00 1 NM_000157.4 GRN 100.00 1 NM_002087.3 KIF5A 100.00 1 NM_004984.4 LRRK2 100.00 1 NM_198578.4 MAPT 100.00 1 NM_001123066.3 MATR3 100.00 1 NM_018834.6 NEFH 100.00 1 NM_021076.4 NEK1 100.00 1 NM_001199397.3 NOTCH3 100.00 1 NM_000435.3 OPTN 100.00 1 NM_001008212.2 PARK7 100.00 1 NM_007262.5 PFN1 100.00 1 NM_005022.4 PINK1 100.00 1 NM_032409.3 PRKN 100.00 1 NM_004562.3 PRNP 100.00 1 NM_000311.5 PRPH 100.00 1 NM_006262.4 PSEN1 100.00 1 NM_000021.4 PSEN2 100.00 1 NM_000447.3 SETX 100.00 1 NM_015046.7 SIGMAR1 100.00 1 NM_005866.4 SNCA 100.00 1 NM_000345.4 SOD1 100.00 1 NM_000454.5 SPG11 100.00 1 NM_025137.4 TARDBP 100.00 1 NM_007375.4 TUBA4A 100.00 1 NM_006000.3 UBQLN2 100.00 1 NM_013444.3 VAPB 100.00 1 NM_004738.5 VCP 100.00 1 NM_007126.5 AARS2 100.00 1 NM_020745.4 ABAT 100.00 1 NM_020686.6 ABCB7 100.00 1 NM_001271696.3 ABCD1 100.00 1 NM_000033.4 ADPRS 100.00 1 NM_017825.3 AFG3L2 100.00 1 NM_006796.3 AP5Z1 100.00 1 NM_014855.3 APOE 100.00 1 NM_000041.4 ARSA 100.00 1 NM_000487.6 ATP1A3 100.00 1 NM_152296.5 ATP6AP2 100.00 1 NM_005765.3 C19ORF12 100.00 1 NM_031448.6 C9ORF72 100.00 1 NM_018325.5 CCNF 100.00 1 NM_001761.3 CHCHD10 100.00 1 NM_213720.3 CHCHD2 100.00 1 NM_016139.4 CLN3 100.00 1 NM_001042432.2 CLN5 100.00 1 NM_006493.4 CLN6 100.00 1 NM_017882.3 CLN8 100.00 1 NM_018941.4 COA7 100.00 1 NM_023077.3 COASY 100.00 1 NM_025233.7 CRAT 100.00 1 NM_000755.5 CSF1R 100.00 1 NM_005211.3 CTSD 100.00 1 NM_001909.5 CTSF 100.00 1 NM_003793.4 DNAJC13 100.00 1 NM_015268.4 DNAJC5 100.00 1 NM_025219.3 DNAJC6 100.00 1 NM_001256864.2 EIF4G1 100.00 1 NM_198241.3 FA2H 100.00 1 NM_024306.5 FBXO7 100.00 1 NM_012179.4 FTL 100.00 1 NM_000146.4 FXN 100.00 1 NM_000144.5 GCH1 100.00 1 NM_000161.3 GIGYF2 100.00 1 NM_001103146.3 GLUD2 100.00 1 NM_012084.4 GRID2 100.00 1 NM_001510.4 IREB2 100.00 1 NM_004136.4 ITM2B 100.00 1 NM_021999.5 KLC4 100.00 1 NM_201521.3 MFSD8 100.00 1 NM_001371596.2 NPC1 100.00 1 NM_000271.5 NPC2 100.00 1 NM_006432.5 PANK2 100.00 1 NM_153638.3 PGAP1 100.00 1 NM_024989.4 PLA2G6 100.00 1 NM_003560.4 PODXL 94.00 1 NM_001018111.3 POLG 100.00 1 NM_001126131.2 PPT1 100.00 1 NM_000310.4 RAB18 100.00 1 NM_021252.5 REPS1 100.00 1 NM_001286611.1 SLC6A3 100.00 1 NM_001044.5 SPG21 100.00 1 NM_016630.7 SQSTM1 100.00 1 NM_003900.5 SYNJ1 100.00 1 NM_003895.3 TBK1 100.00 1 NM_013254.4 UBTF 100.00 1 NM_014233.4 UCHL1 100.00 1 NM_004181.5 VPS13C 100.00 1 NM_020821.3 VPS35 100.00 1 NM_018206.6 WDR45 100.00 1 NM_001029896.2