SENF
MCID: SPN409
MIFTS: 21

Spongiform Encephalopathy with Neuropsychiatric Features (SENF)

Categories: Genetic diseases, Mental 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 72 29 6
Senf 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
spongiform encephalopathy with neuropsychiatric features:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 606688
MedGen 41 C1847650

Summaries for Spongiform Encephalopathy with Neuropsychiatric Features

UniProtKB/Swiss-Prot : 72 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 senf. An important gene associated with Spongiform Encephalopathy with Neuropsychiatric Features is PRNP (Prion Protein). Affiliated tissues include cerebellum and skin, and related phenotypes are encephalopathy and dementia

More information from OMIM: 606688

Related Diseases for Spongiform Encephalopathy with Neuropsychiatric Features

Symptoms & Phenotypes for Spongiform Encephalopathy with Neuropsychiatric Features

Human phenotypes related to Spongiform Encephalopathy with Neuropsychiatric Features:

31
# Description HPO Frequency HPO Source Accession
1 encephalopathy 31 HP:0001298
2 dementia 31 HP:0000726
3 personality changes 31 HP:0000751
4 gliosis 31 HP:0002171

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
personality changes
dementia, rapidly progressive
parkinsonian symptoms
spongiform changes
no amyloid plaques
more

Clinical features from OMIM®:

606688 (Updated 05-Apr-2021)

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:

40
Cerebellum, Skin

Publications for Spongiform Encephalopathy with Neuropsychiatric Features

Articles related to Spongiform Encephalopathy with Neuropsychiatric Features:

(show all 13)
# Title Authors PMID Year
1
Childhood onset in familial prion disease with a novel mutation in the PRNP gene. 57 6
16831973 2006
2
PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia. 57 6
15824374 2005
3
Familial spongiform encephalopathy associated with a novel prion protein gene mutation. 6 57
9266722 1997
4
Inherited prion encephalopathy associated with the novel PRNP H187R mutation: a clinical study. 6
10953183 2000
5
Novel PRNP sequence variant associated with familial encephalopathy. 6
10581485 1999
6
A prion-linked psychiatric disorder. 57
9384372 1997
7
Does the endometrial gene expression of fertile women vary within and between cycles? 61
29370409 2018
8
Trench Foot or Non-Freezing Cold Injury As a Painful Vaso-Neuropathy: Clinical and Skin Biopsy Assessments. 61
28993756 2017
9
A longitudinal study of sensory biomarkers of progression in patients with diabetic peripheral neuropathy using skin biopsies. 61
22705139 2012
10
[Evaluation with the "Psychotherapie Basisdokumentation" for Children and Adolescents: Psy-BaDo-KJ--a questionnaire for quality assurance and evaluation of psychotherapy for children and adolescents]. 61
15900805 2005
11
[Eradication of paratuberculosis in dairy herds: determination of the initial herd prevalence and modelling of prevalence development]. 61
11505846 2001
12
Finger-like lysing patterns of blood clots. 61
8519981 1995
13
Further experiments on the effect of actinomycin D on phytochrome-mediated anthocyanin synthesis. 61
24550053 1967

Variations for Spongiform Encephalopathy with Neuropsychiatric Features

ClinVar genetic disease variations for Spongiform Encephalopathy with Neuropsychiatric Features:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRNP NM_000311.5(PRNP):c.547A>G (p.Thr183Ala) SNV Pathogenic 13407 rs74315411 GRCh37: 20:4680413-4680413
GRCh38: 20:4699767-4699767
2 PRNP NM_000311.5(PRNP):c.560A>G (p.His187Arg) SNV Pathogenic 13412 rs74315413 GRCh37: 20:4680426-4680426
GRCh38: 20:4699780-4699780
3 PRNP NM_000311.5(PRNP):c.313C>A (p.Pro105Thr) SNV Pathogenic 13413 rs74315414 GRCh37: 20:4680179-4680179
GRCh38: 20:4699533-4699533
4 PRNP NM_000311.5(PRNP):c.512A>G (p.Asn171Ser) SNV Uncertain significance 13408 rs16990018 GRCh37: 20:4680378-4680378
GRCh38: 20:4699732-4699732
5 PRNP NM_000311.5(PRNP):c.198G>A (p.Gly66=) SNV Uncertain significance 453304 rs750069679 GRCh37: 20:4680064-4680064
GRCh38: 20:4699418-4699418
6 PRNP NM_000311.5(PRNP):c.180T>C (p.Pro60=) SNV Uncertain significance 453305 rs1386720703 GRCh37: 20:4680046-4680046
GRCh38: 20:4699400-4699400

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

72
# Symbol AA change Variation ID SNP ID
1 PRNP p.Thr183Ala VAR_006471 rs74315411

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 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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