FENIB
MCID: ENC039
MIFTS: 42

Encephalopathy, Familial, with Neuroserpin Inclusion Bodies (FENIB)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare 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 57 75 29 13 6
Familial Encephalopathy with Neuroserpin Inclusion Bodies 12 53 25 59 37 44 15 73
Fenib 57 12 53 25 59 75 55
Encephalopathy, Familial, with Collins Bodies 57 53
Familial Dementia with Neuroserpin Inclusion Bodies 25
Familial Encephalopathy with Collins Bodies 75

Characteristics:

Orphanet epidemiological data:

59
familial encephalopathy with neuroserpin inclusion bodies
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
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:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 604218
Disease Ontology 12 DOID:0050831
Orphanet 59 ORPHA85110
MESH via Orphanet 45 C536841
UMLS via Orphanet 74 C1858680
ICD10 via Orphanet 34 G31.8
MedGen 42 C1858680
KEGG 37 H01212
UMLS 73 C1858680

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 cavernous malformation and cerebral cavernous malformations, 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 are Complement and coagulation cascades and Validated targets of C-MYC transcriptional activation. The drugs Serine and Neuroserpin have been mentioned in the context of this disorder. Affiliated tissues include cortex and brain, and related phenotypes are nystagmus and diplopia

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 : 75 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 : 76 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 34)
# Related Disease Score Top Affiliating Genes
1 cavernous malformation 10.1 PDCD10 SERPINI1
2 cerebral cavernous malformations 10.1 PDCD10 SERPINI1
3 alpha-1-antitrypsin deficiency 10.1 SERPINC1 SERPINI1
4 fibrinolytic defect 10.1 PLAT SERPINC1
5 argentine hemorrhagic fever 10.0 PLAT SERPINC1
6 intracranial embolism 10.0 PLAT SERPINC1
7 dementia 10.0
8 epilepsy 10.0
9 encephalopathy 10.0
10 platelet aggregation, spontaneous 10.0 PLAT SERPINC1
11 posterior myocardial infarction 10.0 PLAT SERPINC1
12 marantic endocarditis 10.0 PLAT SERPINC1
13 endocarditis 10.0 PLAT SERPINC1
14 thrombophlebitis 10.0 PLAT SERPINC1
15 pleuropneumonia 10.0 PLAT SERPINC1
16 intermediate coronary syndrome 10.0 PLAT SERPINC1
17 coronary thrombosis 10.0 PLAT SERPINC1
18 thrombosis 10.0 PLAT SERPINC1
19 pulmonary artery disease 10.0 PLAT SERPINC1
20 dysfibrinogenemia 10.0 PLAT SERPINC1
21 angina pectoris 10.0 PLAT SERPINC1
22 hepatic veno-occlusive disease 10.0 PLAT SERPINC1
23 vein disease 10.0 PLAT SERPINC1
24 thrombophilia due to activated protein c resistance 10.0 PLAT SERPINC1
25 afibrinogenemia, congenital 10.0 PLAT SERPINC1
26 disseminated intravascular coagulation 10.0 PLAT SERPINC1
27 thrombophilia due to thrombin defect 10.0 PLAT SERPINC1
28 antiphospholipid syndrome 10.0 PLAT SERPINC1
29 pulmonary embolism 10.0 PLAT SERPINC1
30 peripheral vascular disease 9.9 PLAT SERPINC1
31 patent foramen ovale 9.9 PLAT SERPINC1
32 arteries, anomalies of 9.9 PLAT SERPINC1
33 hemorrhagic disease 9.9 PLAT SERPINC1
34 acute myocardial infarction 9.8 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:

57
Head And Neck Eyes:
nystagmus
diplopia

Neurologic Peripheral Nervous System:
mild distal sensory impairment

Neurologic Central Nervous System:
seizures
dysarthria
myoclonus
dementia
cerebral atrophy
more

Clinical features from OMIM:

604218

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

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 diplopia 32 HP:0000651
3 seizures 32 HP:0001250
4 dysarthria 32 HP:0001260
5 myoclonus 32 HP:0001336
6 dementia 32 HP:0000726
7 abnormality of extrapyramidal motor function 32 HP:0002071
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:


seizures, myoclonus, 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)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Serine Approved, Nutraceutical 56-45-1 5951
2 Neuroserpin
3 Astragalus
4 Serine Proteinase Inhibitors
5 HIV Protease Inhibitors
6
protease inhibitors

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

Cochrane evidence based reviews: familial encephalopathy 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 29 SERPINI1

Anatomical Context for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

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

41
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:

75
# 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 (show top 50) (show all 115)
# 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 NM_005025.4(SERPINI1): c.145T> C (p.Ser49Pro) single nucleotide variant Pathogenic rs121909051 GRCh38 Chromosome 3, 167789273: 167789273
3 SERPINI1 SERPINI1, SER52ARG undetermined variant Pathogenic
4 SERPINI1 NM_005025.4(SERPINI1): c.1013A> G (p.His338Arg) single nucleotide variant Pathogenic rs121909052 GRCh37 Chromosome 3, 167540807: 167540807
5 SERPINI1 NM_005025.4(SERPINI1): c.1013A> G (p.His338Arg) single nucleotide variant Pathogenic rs121909052 GRCh38 Chromosome 3, 167823019: 167823019
6 SERPINI1 NM_001122752.1(SERPINI1): c.1175G> A (p.Gly392Glu) single nucleotide variant Pathogenic rs121909053 GRCh37 Chromosome 3, 167543053: 167543053
7 SERPINI1 NM_001122752.1(SERPINI1): c.1175G> A (p.Gly392Glu) single nucleotide variant Pathogenic rs121909053 GRCh38 Chromosome 3, 167825265: 167825265
8 SERPINI1 NM_005025.4(SERPINI1): c.1174G> A (p.Gly392Arg) single nucleotide variant Pathogenic rs121909054 GRCh37 Chromosome 3, 167543052: 167543052
9 SERPINI1 NM_005025.4(SERPINI1): c.1174G> A (p.Gly392Arg) single nucleotide variant Pathogenic rs121909054 GRCh38 Chromosome 3, 167825264: 167825264
10 SERPINI1 NM_005025.4(SERPINI1): c.77T> C (p.Ile26Thr) single nucleotide variant Benign/Likely benign rs146948408 GRCh37 Chromosome 3, 167506993: 167506993
11 SERPINI1 NM_005025.4(SERPINI1): c.77T> C (p.Ile26Thr) single nucleotide variant Benign/Likely benign rs146948408 GRCh38 Chromosome 3, 167789205: 167789205
12 SERPINI1 NM_005025.4(SERPINI1): c.-283C> T single nucleotide variant Uncertain significance rs886058167 GRCh37 Chromosome 3, 167453659: 167453659
13 SERPINI1 NM_005025.4(SERPINI1): c.-283C> T single nucleotide variant Uncertain significance rs886058167 GRCh38 Chromosome 3, 167735871: 167735871
14 PDCD10; SERPINI1 NM_005025.4(SERPINI1): c.-239G> A single nucleotide variant Benign/Likely benign rs9835352 GRCh37 Chromosome 3, 167453703: 167453703
15 PDCD10; SERPINI1 NM_005025.4(SERPINI1): c.-239G> A single nucleotide variant Benign/Likely benign rs9835352 GRCh38 Chromosome 3, 167735915: 167735915
16 SERPINI1 NM_005025.4(SERPINI1): c.106C> A (p.Arg36Ser) single nucleotide variant Likely benign rs61735306 GRCh38 Chromosome 3, 167789234: 167789234
17 SERPINI1 NM_005025.4(SERPINI1): c.106C> A (p.Arg36Ser) single nucleotide variant Likely benign rs61735306 GRCh37 Chromosome 3, 167507022: 167507022
18 SERPINI1 NM_005025.4(SERPINI1): c.281C> T (p.Ser94Leu) single nucleotide variant Uncertain significance rs781486255 GRCh38 Chromosome 3, 167790402: 167790402
19 SERPINI1 NM_005025.4(SERPINI1): c.281C> T (p.Ser94Leu) single nucleotide variant Uncertain significance rs781486255 GRCh37 Chromosome 3, 167508190: 167508190
20 SERPINI1 NM_005025.4(SERPINI1): c.404C> T (p.Ala135Val) single nucleotide variant Likely benign rs746127233 GRCh38 Chromosome 3, 167790525: 167790525
21 SERPINI1 NM_005025.4(SERPINI1): c.404C> T (p.Ala135Val) single nucleotide variant Likely benign rs746127233 GRCh37 Chromosome 3, 167508313: 167508313
22 SERPINI1 NM_005025.4(SERPINI1): c.959C> G (p.Ala320Gly) single nucleotide variant Uncertain significance rs886058169 GRCh38 Chromosome 3, 167807321: 167807321
23 SERPINI1 NM_005025.4(SERPINI1): c.959C> G (p.Ala320Gly) single nucleotide variant Uncertain significance rs886058169 GRCh37 Chromosome 3, 167525109: 167525109
24 SERPINI1 NM_005025.4(SERPINI1): c.-391_-387dupGGAGC duplication Uncertain significance rs886058165 GRCh37 Chromosome 3, 167453551: 167453555
25 SERPINI1 NM_005025.4(SERPINI1): c.-391_-387dupGGAGC duplication Uncertain significance rs886058165 GRCh38 Chromosome 3, 167735763: 167735767
26 SERPINI1 NM_005025.4(SERPINI1): c.-335G> A single nucleotide variant Uncertain significance rs886058166 GRCh37 Chromosome 3, 167453607: 167453607
27 SERPINI1 NM_005025.4(SERPINI1): c.-335G> A single nucleotide variant Uncertain significance rs886058166 GRCh38 Chromosome 3, 167735819: 167735819
28 SERPINI1 NM_005025.4(SERPINI1): c.51A> G (p.Thr17=) single nucleotide variant Benign rs34582040 GRCh38 Chromosome 3, 167789179: 167789179
29 SERPINI1 NM_005025.4(SERPINI1): c.51A> G (p.Thr17=) single nucleotide variant Benign rs34582040 GRCh37 Chromosome 3, 167506967: 167506967
30 SERPINI1 NM_005025.4(SERPINI1): c.218G> A (p.Arg73His) single nucleotide variant Benign/Likely benign rs139808176 GRCh38 Chromosome 3, 167789346: 167789346
31 SERPINI1 NM_005025.4(SERPINI1): c.218G> A (p.Arg73His) single nucleotide variant Benign/Likely benign rs139808176 GRCh37 Chromosome 3, 167507134: 167507134
32 SERPINI1 NM_005025.4(SERPINI1): c.*172T> A single nucleotide variant Uncertain significance rs886058170 GRCh38 Chromosome 3, 167825495: 167825495
33 SERPINI1 NM_005025.4(SERPINI1): c.*172T> A single nucleotide variant Uncertain significance rs886058170 GRCh37 Chromosome 3, 167543283: 167543283
34 PDCD10; SERPINI1 NM_005025.4(SERPINI1): c.-214A> G single nucleotide variant Likely benign rs145045884 GRCh37 Chromosome 3, 167453728: 167453728
35 PDCD10; SERPINI1 NM_005025.4(SERPINI1): c.-214A> G single nucleotide variant Likely benign rs145045884 GRCh38 Chromosome 3, 167735940: 167735940
36 SERPINI1 NM_005025.4(SERPINI1): c.40A> G (p.Ser14Gly) single nucleotide variant Benign/Likely benign rs61735307 GRCh38 Chromosome 3, 167789168: 167789168
37 SERPINI1 NM_005025.4(SERPINI1): c.40A> G (p.Ser14Gly) single nucleotide variant Benign/Likely benign rs61735307 GRCh37 Chromosome 3, 167506956: 167506956
38 SERPINI1 NM_005025.4(SERPINI1): c.161C> T (p.Ala54Val) single nucleotide variant Uncertain significance rs769948709 GRCh38 Chromosome 3, 167789289: 167789289
39 SERPINI1 NM_005025.4(SERPINI1): c.161C> T (p.Ala54Val) single nucleotide variant Uncertain significance rs769948709 GRCh37 Chromosome 3, 167507077: 167507077
40 SERPINI1 NM_005025.4(SERPINI1): c.289G> A (p.Val97Ile) single nucleotide variant Benign/Likely benign rs61750375 GRCh38 Chromosome 3, 167790410: 167790410
41 SERPINI1 NM_005025.4(SERPINI1): c.289G> A (p.Val97Ile) single nucleotide variant Benign/Likely benign rs61750375 GRCh37 Chromosome 3, 167508198: 167508198
42 SERPINI1 NM_005025.4(SERPINI1): c.410A> G (p.Asn137Ser) single nucleotide variant Uncertain significance rs886058168 GRCh38 Chromosome 3, 167790531: 167790531
43 SERPINI1 NM_005025.4(SERPINI1): c.410A> G (p.Asn137Ser) single nucleotide variant Uncertain significance rs886058168 GRCh37 Chromosome 3, 167508319: 167508319
44 SERPINI1 NM_005025.4(SERPINI1): c.432T> C (p.Asn144=) single nucleotide variant Benign/Likely benign rs140116256 GRCh38 Chromosome 3, 167790553: 167790553
45 SERPINI1 NM_005025.4(SERPINI1): c.432T> C (p.Asn144=) single nucleotide variant Benign/Likely benign rs140116256 GRCh37 Chromosome 3, 167508341: 167508341
46 SERPINI1 NM_005025.4(SERPINI1): c.838G> A (p.Ala280Thr) single nucleotide variant Benign/Likely benign rs55872908 GRCh38 Chromosome 3, 167794781: 167794781
47 SERPINI1 NM_005025.4(SERPINI1): c.838G> A (p.Ala280Thr) single nucleotide variant Benign/Likely benign rs55872908 GRCh37 Chromosome 3, 167512569: 167512569
48 SERPINI1 NM_005025.4(SERPINI1): c.*197T> C single nucleotide variant Likely benign rs532826558 GRCh38 Chromosome 3, 167825520: 167825520
49 SERPINI1 NM_005025.4(SERPINI1): c.*197T> C single nucleotide variant Likely benign rs532826558 GRCh37 Chromosome 3, 167543308: 167543308
50 SERPINI1 NM_005025.4(SERPINI1): c.21C> G (p.Phe7Leu) single nucleotide variant Benign rs33917740 GRCh38 Chromosome 3, 167789149: 167789149

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 11.3 PLAT SERPINC1
2 10.86 PDCD10 SERPINI1
3 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

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
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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