MCID: ENC039
MIFTS: 42

Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

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

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

MalaCards integrated aliases for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies:

Name: Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 53 71 28 13
Familial Encephalopathy with Neuroserpin Inclusion Bodies 12 49 24 55 36 14 69
Fenib 53 12 49 24 55 71 51
Encephalopathy, Familial, with Collins Bodies 53 49
Familial Dementia with Neuroserpin Inclusion Bodies 24
Familial Encephalopathy with Collins Bodies 71

Characteristics:

Orphanet epidemiological data:

55
familial encephalopathy with neuroserpin inclusion bodies
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
variable age at onset, ranges from third to fifth decade of life
variable severity that correlates with rate and magnitude of neuronal protein accumulation
some patients show rapid disease progression


HPO:

31
encephalopathy, familial, with neuroserpin inclusion bodies:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 604218
Disease Ontology 12 DOID:0050831
Orphanet 55 ORPHA85110
MESH via Orphanet 42 C536841
UMLS via Orphanet 70 C1858680
ICD10 via Orphanet 33 G31.8
MedGen 39 C1858680
MeSH 41 D020271
KEGG 36 H01212
UMLS 69 C1858680

Summaries for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

Genetics Home Reference : 24 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 alpha-1-antitrypsin deficiency and spinocerebellar ataxia 28, 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 cortex and brain.

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.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Progressive myoclonic epilepsy.

UniProtKB/Swiss-Prot : 71 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 : 72 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 32)
# Related Disease Score Top Affiliating Genes
1 alpha-1-antitrypsin deficiency 10.2 SERPINC1 SERPINI1
2 spinocerebellar ataxia 28 10.2 KCNC3 TTBK2
3 fibrinolytic defect 9.9 PLAT SERPINC1
4 argentine hemorrhagic fever 9.9 PLAT SERPINC1
5 platelet aggregation, spontaneous 9.9 PLAT SERPINC1
6 intracranial embolism 9.9 PLAT SERPINC1
7 posterior myocardial infarction 9.9 PLAT SERPINC1
8 angina pectoris 9.9 PLAT SERPINC1
9 marantic endocarditis 9.9 PLAT SERPINC1
10 dementia 9.9
11 epilepsy 9.9
12 encephalopathy 9.9
13 thrombophlebitis 9.9 PLAT SERPINC1
14 coronary thrombosis 9.9 PLAT SERPINC1
15 intermediate coronary syndrome 9.9 PLAT SERPINC1
16 dysfibrinogenemia 9.9 PLAT SERPINC1
17 vein disease 9.9 PLAT SERPINC1
18 hepatic veno-occlusive disease 9.9 PLAT SERPINC1
19 thrombophilia due to activated protein c resistance 9.9 PLAT SERPINC1
20 thrombophilia due to thrombin defect 9.8 PLAT SERPINC1
21 afibrinogenemia, congenital 9.8 PLAT SERPINC1
22 disseminated intravascular coagulation 9.8 PLAT SERPINC1
23 antiphospholipid syndrome 9.8 PLAT SERPINC1
24 pulmonary embolism 9.8 PLAT SERPINC1
25 patent foramen ovale 9.8 PLAT SERPINC1
26 peripheral vascular disease 9.8 PLAT SERPINC1
27 arteries, anomalies of 9.7 PLAT SERPINC1
28 hemorrhagic disease 9.7 PLAT SERPINC1
29 thrombosis 9.7 PLAT SERPINC1
30 autosomal dominant cerebellar ataxia 9.7 KCNC3 TTBK2
31 hellp syndrome 9.6 PLAT SERPINC1
32 acute myocardial infarction 9.6 PLAT SERPINC1

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 via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
myoclonus
dysarthria
dementia
cerebral atrophy
more
Neurologic Peripheral Nervous System:
mild distal sensory impairment

Head And Neck Eyes:
nystagmus
diplopia


Clinical features from OMIM:

604218

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

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 myoclonus 31 HP:0001336
3 abnormality of extrapyramidal motor function 31 HP:0002071
4 nystagmus 31 HP:0000639
5 diplopia 31 HP:0000651
6 dysarthria 31 HP:0001260
7 dementia 31 HP:0000726
8 encephalopathy 31 HP:0001298
9 cerebral atrophy 31 HP:0002059
10 neuronal loss in central nervous system 31 HP:0002529
11 gliosis 31 HP:0002171
12 distal sensory impairment 31 HP:0002936

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


abnormality of extrapyramidal motor function, seizures, myoclonus

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)
# 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:


# Name Status NCT ID Phase Drugs
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:

# Genetic test Affiliating Genes
1 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 28 SERPINI1

Anatomical Context for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

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

38
Cortex, Brain

Publications for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

Articles related to Encephalopathy, Familial, with Neuroserpin Inclusion Bodies:

# Title Authors Year
1
The lectin OS-9 delivers mutant neuroserpin to endoplasmic reticulum associated degradation in familial encephalopathy with neuroserpin inclusion bodies. ( 24795221 )
2014
2
Accumulation of mutant neuroserpin precedes development of clinical symptoms in familial encephalopathy with neuroserpin inclusion bodies. ( 17392169 )
2007
3
A rat model of human FENIB (familial encephalopathy with neuroserpin inclusion bodies). ( 16782060 )
2006
4
Latent S49P neuroserpin forms polymers in the dementia familial encephalopathy with neuroserpin inclusion bodies. ( 15664988 )
2005
5
Mutant Neuroserpin (S49P) that causes familial encephalopathy with neuroserpin inclusion bodies is a poor proteinase inhibitor and readily forms polymers in vitro. ( 11880376 )
2002
6
Cognitive deficits associated with a recently reported familial neurodegenerative disease: familial encephalopathy with neuroserpin inclusion bodies. ( 11559315 )
2001
7
Familial encephalopathy with neuroserpin inclusion bodies. ( 10595921 )
1999

Variations for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

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

71
# 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
# 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.02 PLAT SERPINB7 SERPINC1 SERPINI1 TTBK2
2 perikaryon GO:0043204 8.96 KCNC3 SERPINI1

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

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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