MCID: SPR166
MIFTS: 14

Sporadic Fatal Insomnia

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Sporadic Fatal Insomnia

MalaCards integrated aliases for Sporadic Fatal Insomnia:

Name: Sporadic Fatal Insomnia 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Orphanet 58 ORPHA586130

Summaries for Sporadic Fatal Insomnia

MalaCards based summary : Sporadic Fatal Insomnia is related to prion disease and fatal familial insomnia. An important gene associated with Sporadic Fatal Insomnia is PRNP (Prion Protein). Affiliated tissues include spinal cord and thalamus.

Related Diseases for Sporadic Fatal Insomnia

Diseases in the Fatal Familial Insomnia family:

Sporadic Fatal Insomnia

Diseases related to Sporadic Fatal Insomnia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 prion disease 10.5
2 fatal familial insomnia 10.4
3 creutzfeldt-jakob disease 10.2
4 ataxia and polyneuropathy, adult-onset 10.1
5 lymphoma, hodgkin, classic 10.0
6 ocular motor apraxia 10.0
7 lymphoma, non-hodgkin, familial 10.0
8 genetic prion disease 10.0
9 cerebral atrophy 10.0
10 dysautonomia 10.0
11 dysphagia 10.0
12 encephalopathy 10.0
13 myoclonus 10.0

Graphical network of the top 20 diseases related to Sporadic Fatal Insomnia:



Diseases related to Sporadic Fatal Insomnia

Symptoms & Phenotypes for Sporadic Fatal Insomnia

Drugs & Therapeutics for Sporadic Fatal Insomnia

Search Clinical Trials , NIH Clinical Center for Sporadic Fatal Insomnia

Genetic Tests for Sporadic Fatal Insomnia

Anatomical Context for Sporadic Fatal Insomnia

MalaCards organs/tissues related to Sporadic Fatal Insomnia:

40
Spinal Cord, Thalamus

Publications for Sporadic Fatal Insomnia

Articles related to Sporadic Fatal Insomnia:

(show all 35)
# Title Authors PMID Year
1
Diagnosis of prion diseases by RT-QuIC results in improved surveillance. 61
32571851 2020
2
Molecular Characterization of the Danish Prion Diseases Cohort With Special Emphasis on Rare and Unique Cases. 61
31553446 2019
3
Prion Disease. 61
31533183 2019
4
Cortical and bithalamic hypometabolism by FDG-PET/CT in a patient with sporadic fatal insomnia. 61
30842295 2019
5
Two distinct prions in fatal familial insomnia and its sporadic form. 61
32954274 2019
6
Sporadic Fatal Insomnia in Europe: Phenotypic Features and Diagnostic Challenges. 61
30048013 2018
7
Variably protease-sensitive prionopathy. 61
29887135 2018
8
Fatal familial insomnia and sporadic fatal insomnia. 61
29887141 2018
9
A review of drug therapy for sporadic fatal insomnia. 61
28976233 2017
10
Novel strain properties distinguishing sporadic prion diseases sharing prion protein genotype and prion type. 61
28091514 2017
11
Sporadic fatal insomnia in an adolescent. 61
24488737 2014
12
MM2-thalamic Creutzfeldt-Jakob disease: neuropathological, biochemical and transmission studies identify a distinctive prion strain. 61
22288561 2012
13
Sporadic fatal insomnia with clinical, laboratory, and genetic findings. 61
22717776 2012
14
Molecular pathogenesis of sporadic prion diseases in man. 61
22421210 2012
15
Creutzfeldt-Jakob disease. 61
22411235 2012
16
Sporadic fatal insomnia in a young woman: a diagnostic challenge: case report. 61
22040318 2011
17
Interesting image. Serial PET changes of extraocular muscle hypermetabolism in sporadic fatal insomnia. 61
20026978 2010
18
An atypical case of sporadic fatal insomnia. 61
19608785 2009
19
Clinical features of sporadic fatal insomnia. 61
19898273 2009
20
Sporadic fatal insomnia masquerading as a paraneoplastic cerebellar syndrome. 61
18625868 2008
21
Sporadic fatal insomnia in a fatal familial insomnia pedigree. 61
18332347 2008
22
MM2-thalamic-type sporadic Creutzfeldt-Jakob disease with widespread neocortical pathology. 61
16957926 2006
23
The expanding universe of prion diseases. 61
16609731 2006
24
Neuropathologic characteristics of spinal cord lesions in sporadic Creutzfeldt-Jakob disease. 61
16175355 2005
25
Fatal familial insomnia: a model disease in sleep physiopathology. 61
16109494 2005
26
Sporadic fatal insomnia with spongiform degeneration in the thalamus and widespread PrPSc deposits in the brain. 61
15875907 2005
27
Biochemical fingerprints of prion diseases: scrapie prion protein in human prion diseases that share prion genotype and type. 61
15606903 2005
28
Familial and sporadic fatal insomnia. 61
12849238 2003
29
Hereditary Creutzfeldt-Jakob disease and fatal familial insomnia. 61
12733424 2003
30
Sporadic and familial CJD: classification and characterisation. 61
14522861 2003
31
Novel differences between two human prion strains revealed by two-dimensional gel electrophoresis. 61
11489910 2001
32
Sporadic fatal insomnia: a case study. 61
11026452 2000
33
Articles reviewed: 1. A subtype of sporadic prion disease mimicking fatal familial insomnia. 2. Prion protein conformation in a patient with sporadic fatal insomnia. 61
10733626 2000
34
A subtype of sporadic prion disease mimicking fatal familial insomnia. 61
10371520 1999
35
Prion protein conformation in a patient with sporadic fatal insomnia. 61
10341275 1999

Variations for Sporadic Fatal Insomnia

Expression for Sporadic Fatal Insomnia

Search GEO for disease gene expression data for Sporadic Fatal Insomnia.

Pathways for Sporadic Fatal Insomnia

GO Terms for Sporadic Fatal Insomnia

Sources for Sporadic Fatal Insomnia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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