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:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 50 68 12
Familial Encephalopathy with Neuroserpin Inclusion Bodies 11 46 23 24 13 52 25 66
Fenib 11 46 23 24 52 68 48
 
Familial Dementia with Neuroserpin Inclusion Bodies 24
Encephalopathy, Familial, with Collins Bodies 46
Familial Encephalopathy with Collins Bodies 68

Characteristics:

Orphanet epidemiological data:

52
familial encephalopathy with neuroserpin inclusion bodies:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult

HPO:

62
encephalopathy, familial, with neuroserpin inclusion bodies:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 604218
Disease Ontology11 DOID:0050831
Orphanet52 ORPHA85110
ICD10 via Orphanet29 G31.8
MESH via Orphanet38 C536841
UMLS via Orphanet67 C1858680
MedGen35 C1858680
MeSH37 D020271

Summaries for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

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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 encephalopathy and hypotrichosis 1, and has symptoms including myoclonus, myoclonus and seizures. 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:68 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.

Description from OMIM:50 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 for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

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Symptoms by clinical synopsis from OMIM:

604218

Clinical features from OMIM:

604218

HPO human phenotypes related to Encephalopathy, Familial, with Neuroserpin Inclusion Bodies:

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
protease inhibitors5157
Synonyms:
 
protease inhibitors
2serineNutraceutical883

Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion BodiesCompletedNCT00006176
2Genetic Disease Gene IdentificationEnrolling by invitationNCT00916903
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 Bodies25
2 Familial Encephalopathy with Neuroserpin Inclusion Bodies23 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:

34
Cortex, Brain

Animal Models for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies or affiliated genes

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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:

68
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)single nucleotide variantPathogenicrs121909051GRCh37Chr 3, 167507061: 167507061
2SERPINI1SERPINI1, SER52ARGundetermined variantPathogenic
3SERPINI1NM_005025.4(SERPINI1): c.1013A> G (p.His338Arg)single nucleotide variantPathogenicrs121909052GRCh37Chr 3, 167540807: 167540807
4SERPINI1NM_005025.4(SERPINI1): c.1175G> A (p.Gly392Glu)single nucleotide variantPathogenicrs121909053GRCh37Chr 3, 167543053: 167543053
5SERPINI1NM_005025.4(SERPINI1): c.1174G> A (p.Gly392Arg)single nucleotide variantPathogenicrs121909054GRCh37Chr 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet