MCID: SPN409
MIFTS: 16

Spongiform Encephalopathy with Neuropsychiatric Features

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Spongiform Encephalopathy with Neuropsychiatric Features

MalaCards integrated aliases for Spongiform Encephalopathy with Neuropsychiatric Features:

Name: Spongiform Encephalopathy with Neuropsychiatric Features 57 75 29 6
Prion Disease with Protracted Course 57 13
Senf 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
mean duration of symptoms 4.2 plus or minus 2.4 years


HPO:

32
spongiform encephalopathy with neuropsychiatric features:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 606688
MedGen 42 C1847650

Summaries for Spongiform Encephalopathy with Neuropsychiatric Features

UniProtKB/Swiss-Prot : 75 Spongiform encephalopathy with neuropsychiatric features: Autosomal dominant presenile dementia with a rapidly progressive and protracted clinical course. The dementia was characterized clinically by frontotemporal features, including early personality changes. Some patients had memory loss, several showed aggressiveness, hyperorality and verbal stereotypy, others had parkinsonian symptoms.

MalaCards based summary : Spongiform Encephalopathy with Neuropsychiatric Features, is also known as prion disease with protracted course. An important gene associated with Spongiform Encephalopathy with Neuropsychiatric Features is PRNP (Prion Protein). Affiliated tissues include cerebellum, and related phenotypes are dementia and personality changes

Description from OMIM: 606688

Related Diseases for Spongiform Encephalopathy with Neuropsychiatric Features

Symptoms & Phenotypes for Spongiform Encephalopathy with Neuropsychiatric Features

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dementia, rapidly progressive
personality changes
parkinsonian symptoms
spongiform changes
no amyloid plaques
more

Clinical features from OMIM:

606688

Human phenotypes related to Spongiform Encephalopathy with Neuropsychiatric Features:

32
# Description HPO Frequency HPO Source Accession
1 dementia 32 HP:0000726
2 personality changes 32 HP:0000751
3 encephalopathy 32 HP:0001298
4 gliosis 32 HP:0002171

Drugs & Therapeutics for Spongiform Encephalopathy with Neuropsychiatric Features

Search Clinical Trials , NIH Clinical Center for Spongiform Encephalopathy with Neuropsychiatric Features

Genetic Tests for Spongiform Encephalopathy with Neuropsychiatric Features

Genetic tests related to Spongiform Encephalopathy with Neuropsychiatric Features:

# Genetic test Affiliating Genes
1 Spongiform Encephalopathy with Neuropsychiatric Features 29 PRNP

Anatomical Context for Spongiform Encephalopathy with Neuropsychiatric Features

MalaCards organs/tissues related to Spongiform Encephalopathy with Neuropsychiatric Features:

41
Cerebellum

Publications for Spongiform Encephalopathy with Neuropsychiatric Features

Variations for Spongiform Encephalopathy with Neuropsychiatric Features

UniProtKB/Swiss-Prot genetic disease variations for Spongiform Encephalopathy with Neuropsychiatric Features:

75
# Symbol AA change Variation ID SNP ID
1 PRNP p.Thr183Ala VAR_006471 rs74315411

ClinVar genetic disease variations for Spongiform Encephalopathy with Neuropsychiatric Features:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRNP NM_000311.4(PRNP): c.547A> G (p.Thr183Ala) single nucleotide variant Pathogenic rs74315411 GRCh37 Chromosome 20, 4680413: 4680413
2 PRNP NM_000311.4(PRNP): c.547A> G (p.Thr183Ala) single nucleotide variant Pathogenic rs74315411 GRCh38 Chromosome 20, 4699767: 4699767
3 PRNP NM_000311.4(PRNP): c.560A> G (p.His187Arg) single nucleotide variant Pathogenic rs74315413 GRCh37 Chromosome 20, 4680426: 4680426
4 PRNP NM_000311.4(PRNP): c.560A> G (p.His187Arg) single nucleotide variant Pathogenic rs74315413 GRCh38 Chromosome 20, 4699780: 4699780
5 PRNP NM_000311.4(PRNP): c.313C> A (p.Pro105Thr) single nucleotide variant Pathogenic rs74315414 GRCh37 Chromosome 20, 4680179: 4680179
6 PRNP NM_000311.4(PRNP): c.313C> A (p.Pro105Thr) single nucleotide variant Pathogenic rs74315414 GRCh38 Chromosome 20, 4699533: 4699533
7 PRNP NM_001271561.2(PRNP): c.91T> C (p.Ser31Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 4680046: 4680046
8 PRNP NM_001271561.2(PRNP): c.91T> C (p.Ser31Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 4699400: 4699400
9 PRNP NM_001271561.2(PRNP): c.109G> A (p.Ala37Thr) single nucleotide variant Uncertain significance rs750069679 GRCh37 Chromosome 20, 4680064: 4680064
10 PRNP NM_001271561.2(PRNP): c.109G> A (p.Ala37Thr) single nucleotide variant Uncertain significance rs750069679 GRCh38 Chromosome 20, 4699418: 4699418

Expression for Spongiform Encephalopathy with Neuropsychiatric Features

Search GEO for disease gene expression data for Spongiform Encephalopathy with Neuropsychiatric Features.

Pathways for Spongiform Encephalopathy with Neuropsychiatric Features

GO Terms for Spongiform Encephalopathy with Neuropsychiatric Features

Sources for Spongiform Encephalopathy with Neuropsychiatric Features

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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