FENIB
MCID: ENC039
MIFTS: 37

Encephalopathy, Familial, with Neuroserpin Inclusion Bodies (FENIB) malady

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

Aliases & Classifications for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

Aliases & Descriptions for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies:

Name: Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 54 66 13
Familial Encephalopathy with Neuroserpin Inclusion Bodies 12 50 24 25 56 29 14 69
Fenib 12 50 24 25 56 66 52
Familial Dementia with Neuroserpin Inclusion Bodies 25
Encephalopathy, Familial, with Collins Bodies 50
Familial Encephalopathy with Collins Bodies 66

Characteristics:

Orphanet epidemiological data:

56
familial encephalopathy with neuroserpin inclusion bodies
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

HPO:

32
encephalopathy, familial, with neuroserpin inclusion bodies:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 604218
Disease Ontology 12 DOID:0050831
Orphanet 56 ORPHA85110
MESH via Orphanet 43 C536841
UMLS via Orphanet 70 C1858680
ICD10 via Orphanet 34 G31.8
MedGen 40 C1858680
MeSH 42 D020271

Summaries for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

Genetics Home Reference : 25 Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a disorder that causes progressive dysfunction of the brain (encephalopathy). It is characterized by a loss of intellectual functioning (dementia) and seizures. At first, affected individuals may have difficulty sustaining attention and concentrating. They may experience repetitive thoughts, speech, or movements. As the condition progresses, their personality changes and judgment, insight, and memory become impaired. Affected people lose the ability to perform the activities of daily living, and most eventually require comprehensive care.

MalaCards based summary : Encephalopathy, Familial, with Neuroserpin Inclusion Bodies, also known as familial encephalopathy with neuroserpin inclusion bodies, is related to encephalopathy and brazilian hemorrhagic fever, and has symptoms including seizures, myoclonus and abnormality of extrapyramidal motor function. An important gene associated with Encephalopathy, Familial, with Neuroserpin Inclusion Bodies is SERPINI1 (Serpin Family I Member 1), and among its related pathways/superpathways is Cell adhesion_Plasmin signaling. The drugs Neuroserpin and HIV Protease Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include brain and cortex.

Disease Ontology : 12 A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has material basis in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.

UniProtKB/Swiss-Prot : 66 Encephalopathy, familial, with neuroserpin inclusion bodies: A neurodegenerative disease clinically characterized by dementia. Additional features include intellectual decline, psychic seizures, progressive myoclonic epilepsy, and cerebral atrophy. Histologically, it is characterized by the presence of eosinophilic inclusion bodies (called Collins bodies) throughout the deeper layers of the cerebral cortex, leading to neuronal death.

Wikipedia : 71 Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a progressive disorder of the... more...

Description from OMIM: 604218

Related Diseases for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

Diseases related to Encephalopathy, Familial, with Neuroserpin Inclusion Bodies via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
id Related Disease Score Top Affiliating Genes
1 encephalopathy 10.4
2 brazilian hemorrhagic fever 10.1 PLAT SERPINC1
3 peanut allergy 10.1 PLAT SERPINC1
4 melorheostosis 10.1 PLAT SERPINC1
5 silent myocardial infarction 10.1 PLAT SERPINC1
6 secretory diarrhea myopathy and deafness 10.1 PLAT SERPINC1
7 lynch syndrome 10.1 PLAT SERPINC1
8 ductal carcinoma in situ 10.1 PLAT SERPINC1
9 monocular exotropia 10.1 PLAT SERPINC1
10 eagle syndrome 10.1 PLAT SERPINC1
11 lupus erythematosus 10.1 PLAT SERPINC1
12 septic myocarditis 10.1 PLAT SERPINC1
13 zika virus congenital syndrome 10.1 PLAT SERPINC1
14 alcoholic gastritis 10.1 PLAT SERPINC1
15 hennekam lymphangiectasia-lymphedema syndrome 2 10.0 PLAT SERPINC1
16 pregnancy loss, recurrent 1 10.0 PLAT SERPINC1
17 aids dementia complex 10.0 PLAT SERPINC1
18 brill-zinsser disease 10.0 PLAT SERPINC1
19 hypotrichosis 1 10.0 KCNC3 TTBK2
20 immunodeficiency, common variable, 6 10.0 PLAT SERPINC1
21 dementia 10.0
22 sertoli-leydig cell tumor 10.0 PLAT SERPINC1
23 leukocyte disease 10.0 PLAT SERPINC1
24 asbestosis 10.0 PLAT SERPINC1
25 congenital chloride diarrhea 9.9 PLAT SERPINC1
26 adult t-cell leukemia 9.9 PLAT SERPINC1
27 dipetalonemiasis 9.9 KCNC3 TTBK2
28 bone development disease 9.9 PLAT SERPINC1
29 dentine erosion 9.8 PLAT SERPINC1
30 fanconi-bickel syndrome 9.1 ALDH1B1 KCNC3 PLAT SERPINB7 SERPINC1 SERPINI1

Graphical network of the top 20 diseases related to Encephalopathy, Familial, with Neuroserpin Inclusion Bodies:



Diseases related to Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

Symptoms & Phenotypes for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

Symptoms by clinical synopsis from OMIM:

604218

Clinical features from OMIM:

604218

Human phenotypes related to Encephalopathy, Familial, with Neuroserpin Inclusion Bodies:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 myoclonus 32 HP:0001336
3 abnormality of extrapyramidal motor function 32 HP:0002071
4 nystagmus 32 HP:0000639
5 diplopia 32 HP:0000651
6 dysarthria 32 HP:0001260
7 dementia 32 HP:0000726
8 encephalopathy 32 HP:0001298
9 cerebral atrophy 32 HP:0002059
10 neuronal loss in central nervous system 32 HP:0002529
11 gliosis 32 HP:0002171
12 distal sensory impairment 32 HP:0002936

UMLS symptoms related to Encephalopathy, Familial, with Neuroserpin Inclusion Bodies:


myoclonus, seizures, abnormality of extrapyramidal motor function

Drugs & Therapeutics for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

Drugs for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Neuroserpin
2 HIV Protease Inhibitors
3
protease inhibitors
4 Serine Proteinase Inhibitors
5 Astragalus Nutraceutical
6 serine Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Genetic Disease Gene Identification Unknown status NCT00916903
2 Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies Completed NCT00006176
3 Investigation of Neuroserpin as an Autism Candidate Gene Terminated NCT00917683

Search NIH Clinical Center for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

Genetic Tests for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

Genetic tests related to Encephalopathy, Familial, with Neuroserpin Inclusion Bodies:

id Genetic test Affiliating Genes
1 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 29
2 Familial Encephalopathy with Neuroserpin Inclusion Bodies 24 SERPINI1

Anatomical Context for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

MalaCards organs/tissues related to Encephalopathy, Familial, with Neuroserpin Inclusion Bodies:

39
Brain, Cortex

Publications for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

Variations for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

UniProtKB/Swiss-Prot genetic disease variations for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies:

66
id Symbol AA change Variation ID SNP ID
1 SERPINI1 p.Ser49Pro VAR_008520 rs121909051
2 SERPINI1 p.Ser52Arg VAR_008521

ClinVar genetic disease variations for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SERPINI1 NM_005025.4(SERPINI1): c.145T> C (p.Ser49Pro) single nucleotide variant Pathogenic rs121909051 GRCh37 Chromosome 3, 167507061: 167507061
2 SERPINI1 SERPINI1, SER52ARG undetermined variant Pathogenic
3 SERPINI1 NM_005025.4(SERPINI1): c.1013A> G (p.His338Arg) single nucleotide variant Pathogenic rs121909052 GRCh37 Chromosome 3, 167540807: 167540807
4 SERPINI1 NM_001122752.1(SERPINI1): c.1175G> A (p.Gly392Glu) single nucleotide variant Pathogenic rs121909053 GRCh37 Chromosome 3, 167543053: 167543053
5 SERPINI1 NM_005025.4(SERPINI1): c.1174G> A (p.Gly392Arg) single nucleotide variant Pathogenic rs121909054 GRCh37 Chromosome 3, 167543052: 167543052

Expression for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

Search GEO for disease gene expression data for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies.

Pathways for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

Pathways related to Encephalopathy, Familial, with Neuroserpin Inclusion Bodies according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.31 PLAT SERPINI1

GO Terms for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

Cellular components related to Encephalopathy, Familial, with Neuroserpin Inclusion Bodies according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.02 PLAT SERPINB7 SERPINC1 SERPINI1 TTBK2

Biological processes related to Encephalopathy, Familial, with Neuroserpin Inclusion Bodies according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of endopeptidase activity GO:0010951 9.13 SERPINB7 SERPINC1 SERPINI1
2 negative regulation of peptidase activity GO:0010466 8.8 SERPINB7 SERPINC1 SERPINI1

Molecular functions related to Encephalopathy, Familial, with Neuroserpin Inclusion Bodies according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 peptidase inhibitor activity GO:0030414 9.13 SERPINB7 SERPINC1 SERPINI1
2 serine-type endopeptidase inhibitor activity GO:0004867 8.8 SERPINB7 SERPINC1 SERPINI1

Sources for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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