MCID: ENC039
MIFTS: 37

Encephalopathy, Familial, with Neuroserpin Inclusion Bodies malady

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

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

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 52 70 12
Familial Encephalopathy with Neuroserpin Inclusion Bodies 11 48 24 25 54 27 13 68
Fenib 11 48 24 25 54 70 50
 
Familial Dementia with Neuroserpin Inclusion Bodies 25
Encephalopathy, Familial, with Collins Bodies 48
Familial Encephalopathy with Collins Bodies 70

Characteristics:

Orphanet epidemiological data:

54
familial encephalopathy with neuroserpin inclusion bodies:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult

HPO:

64
encephalopathy, familial, with neuroserpin inclusion bodies:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 604218
Disease Ontology11 DOID:0050831
Orphanet54 ORPHA85110
MESH via Orphanet40 C536841
UMLS via Orphanet69 C1858680
ICD10 via Orphanet31 G31.8
MedGen37 C1858680
MeSH39 D020271

Summaries for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

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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 hypotrichosis 1, and has symptoms including nystagmus, diplopia and dementia. An important gene associated with Encephalopathy, Familial, with Neuroserpin Inclusion Bodies is SERPINI1 (Serpin Family I Member 1), and among its related pathways are Cell adhesion_Plasmin signaling and Formation of Fibrin Clot (Clotting Cascade). Affiliated tissues include cortex and brain.

Disease Ontology:11 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:70 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:52 604218

Related Diseases for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

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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

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Symptoms by clinical synopsis from OMIM:

604218

Clinical features from OMIM:

604218

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

 64 (show all 12)
id Description HPO Frequency HPO Source Accession
1 nystagmus64 HP:0000639
2 diplopia64 HP:0000651
3 dementia64 HP:0000726
4 seizures64 HP:0001250
5 dysarthria64 HP:0001260
6 encephalopathy64 HP:0001298
7 myoclonus64 HP:0001336
8 cerebral atrophy64 HP:0002059
9 abnormality of extrapyramidal motor function64 HP:0002071
10 gliosis64 HP:0002171
11 neuronal loss in central nervous system64 HP:0002529
12 distal sensory impairment64 HP:0002936

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


myoclonus, seizures, extrapyramidal sign

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

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Neuroserpin3
2Serine Proteinase Inhibitors850
3
protease inhibitors5320
Synonyms:
 
protease inhibitors
4HIV Protease Inhibitors5319
5AstragalusNutraceutical52
6serineNutraceutical921

Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Disease Gene IdentificationUnknown statusNCT00916903
2Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion BodiesCompletedNCT00006176
3Investigation of Neuroserpin as an Autism Candidate GeneTerminatedNCT00917683

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

Genetic Tests for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

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

id Genetic test Affiliating Genes
1 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies27
2 Familial Encephalopathy with Neuroserpin Inclusion Bodies24 SERPINI1

Anatomical Context for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

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

36
Cortex, Brain

Publications for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

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Variations for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

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

70
id Symbol AA change Variation ID SNP ID
1SERPINI1p.Ser49ProVAR_008520rs121909051
2SERPINI1p.Ser52ArgVAR_008521

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1SERPINI1NM_005025.4(SERPINI1): c.145T> C (p.Ser49Pro)SNVPathogenicrs121909051GRCh37Chr 3, 167507061: 167507061
2SERPINI1SERPINI1, SER52ARGundetermined variantPathogenicChr na, -1: -1
3SERPINI1NM_005025.4(SERPINI1): c.1013A> G (p.His338Arg)SNVPathogenicrs121909052GRCh37Chr 3, 167540807: 167540807
4SERPINI1NM_005025.4(SERPINI1): c.1175G> A (p.Gly392Glu)SNVPathogenicrs121909053GRCh37Chr 3, 167543053: 167543053
5SERPINI1NM_005025.4(SERPINI1): c.1174G> A (p.Gly392Arg)SNVPathogenicrs121909054GRCh37Chr 3, 167543052: 167543052

Expression for genes affiliated with Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

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

Pathways for genes affiliated with Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

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GO Terms for genes affiliated with Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

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

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056157.6PLAT, SERPINB7, SERPINC1, SERPINI1, TTBK2

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of endopeptidase activityGO:00109518.9SERPINB7, SERPINC1, SERPINI1

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

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase inhibitor activityGO:00048678.9SERPINB7, SERPINC1, SERPINI1

Sources for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet