FENIB
MCID: FML059
MIFTS: 35

Familial Encephalopathy with Neuroserpin Inclusion Bodies (FENIB) malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories

Summaries for Familial Encephalopathy with Neuroserpin Inclusion Bodies

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Genetics Home Reference:22 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: Familial Encephalopathy with Neuroserpin Inclusion Bodies, also known as FENIB, is related to dementia, and has symptoms including autosomal dominant inheritance, nystagmus and diplopia. An important gene associated with Familial Encephalopathy with Neuroserpin Inclusion Bodies is SERPINI1 (serpin peptidase inhibitor, clade I (neuroserpin), member 1). The compound serine have been mentioned in the context of this disorder. Affiliated tissues include brain.

Disease Ontology:9 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.

Wikipedia:64 Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a progressive disorder of the... more...

Description from OMIM:46 604218

Aliases & Classifications for Familial Encephalopathy with Neuroserpin Inclusion Bodies

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Sources:
9Disease Ontology, 42NIH Rare Diseases, 22Genetics Home Reference, 48Orphanet, 61UMLS, 44Novoseek, 10diseasecard, 21GeneTests, 23GTR, 46OMIM, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
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Familial Encephalopathy with Neuroserpin Inclusion Bodies, Aliases & Descriptions:

Name: Familial Encephalopathy with Neuroserpin Inclusion Bodies 9 42 22 48 61
Fenib 9 42 22 44 48
Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 10 21 23 46
 
Familial Dementia with Neuroserpin Inclusion Bodies 22 61
Encephalopathy, Familial, with Collins Bodies 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases


Characteristics (Orphanet epidemiological data):

48
familial encephalopathy with neuroserpin inclusion bodies:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adulthood


External Ids:

Disease Ontology9 DOID:0050831
OMIM46 604218
MESH via Orphanet35 C536841
ICD10 via Orphanet27 G31.8
UMLS via Orphanet62 C1858680

Related Diseases for Familial Encephalopathy with Neuroserpin Inclusion Bodies

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

idRelated DiseaseScoreTop Affiliating Genes
1dementia10.5

Symptoms for Familial Encephalopathy 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 Familial Encephalopathy with Neuroserpin Inclusion Bodies:

(show all 12)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 nystagmus HP:0000639
3 diplopia HP:0000651
4 dementia HP:0000726
5 seizures HP:0001250
6 dysarthria HP:0001260
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

Drugs & Therapeutics for Familial Encephalopathy with Neuroserpin Inclusion Bodies

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Drug clinical trials:

Search ClinicalTrials for Familial Encephalopathy with Neuroserpin Inclusion Bodies

Search NIH Clinical Center for Familial Encephalopathy with Neuroserpin Inclusion Bodies

Genetic Tests for Familial Encephalopathy with Neuroserpin Inclusion Bodies

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Genetic tests related to Familial Encephalopathy with Neuroserpin Inclusion Bodies:

id Genetic test Affiliating Genes
1 Familial Encephalopathy with Neuroserpin Inclusion Bodies21 23 SERPINI1

Anatomical Context for Familial Encephalopathy with Neuroserpin Inclusion Bodies

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

32
Brain

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

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Publications for Familial Encephalopathy with Neuroserpin Inclusion Bodies

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Articles related to Familial Encephalopathy with Neuroserpin Inclusion Bodies:

idTitleAuthorsYear
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 Familial Encephalopathy with Neuroserpin Inclusion Bodies

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

63
id Symbol AA change Variation ID SNP ID
1SERPINI1p.Ser49ProVAR_008520
2SERPINI1p.Ser52ArgVAR_008521

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

7
id Gene Name 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 Familial Encephalopathy with Neuroserpin Inclusion Bodies

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Expression patterns in normal tissues for genes affiliated with Familial Encephalopathy with Neuroserpin Inclusion Bodies

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

Pathways for genes affiliated with Familial Encephalopathy with Neuroserpin Inclusion Bodies

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Compounds for genes affiliated with Familial Encephalopathy with Neuroserpin Inclusion Bodies

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Sources:
44Novoseek
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Compounds related to Familial Encephalopathy with Neuroserpin Inclusion Bodies according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1serine449.1SERPINB7, SERPINI1

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

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Cellular components related to Familial Encephalopathy with Neuroserpin Inclusion Bodies according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056159.1SERPINB7, SERPINI1

Biological processes related to Familial Encephalopathy with Neuroserpin Inclusion Bodies according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of endopeptidase activityGO:0109519.1SERPINB7, SERPINI1
2regulation of proteolysisGO:0301628.8SERPINB7, SERPINI1

Molecular functions related to Familial Encephalopathy with Neuroserpin Inclusion Bodies according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase inhibitor activityGO:0048679.1SERPINB7, SERPINI1

Products for genes affiliated with Familial Encephalopathy with Neuroserpin Inclusion Bodies

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Sources for Familial Encephalopathy with Neuroserpin Inclusion Bodies

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet