FENIB
MCID: FML059
MIFTS: 23

Familial Encephalopathy with Neuroserpin Inclusion Bodies (FENIB) malady

Neuronal, Genetic categories

Summaries for Familial Encephalopathy with Neuroserpin Inclusion Bodies

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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: Familial Encephalopathy with Neuroserpin Inclusion Bodies, also known as FENIB, is related to stroke, ischemic and pulmonary disease, chronic obstructive. An important gene associated with Familial Encephalopathy with Neuroserpin Inclusion Bodies is SERPINI1 (serpin peptidase inhibitor, clade I (neuroserpin), member 1), and among its related pathways is Cell adhesion ECM remodeling. The compound serine have been mentioned in the context of this disorder. Affiliated tissues include brain.

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

Description from OMIM:47 604218

Aliases & Classifications for Familial Encephalopathy with Neuroserpin Inclusion Bodies

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 49Orphanet, 61UMLS, 45Novoseek, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
familial encephalopathy with neuroserpin inclusion bodies:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adulthood


Aliases & Descriptions:

familial encephalopathy with neuroserpin inclusion bodies 43 20 22 21 49 61
fenib 43 21 45 49
encephalopathy, familial, with neuroserpin inclusion bodies 47
familial dementia with neuroserpin inclusion bodies 21
encephalopathy, familial, with collins bodies 43


External Ids:

OMIM47 604218
MESH via Orphanet36 C536841
ICD10 via Orphanet26 G31.8
UMLS via Orphanet62 C1858680

Related Diseases for Familial Encephalopathy with Neuroserpin Inclusion Bodies

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17GeneCards, 18GeneDecks
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Clinical Features for Familial Encephalopathy with Neuroserpin Inclusion Bodies

Sources:
47OMIM
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Clinical features from OMIM:

604218

Clinical synopsis from OMIM:

604218

Drugs & Therapeutics for Familial Encephalopathy with Neuroserpin Inclusion Bodies

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Familial Encephalopathy with Neuroserpin Inclusion Bodies

Drug clinical trials:

Search ClinicalTrials for Familial Encephalopathy with Neuroserpin Inclusion Bodies

Search NIH Clinical Center for Familial Encephalopathy with Neuroserpin Inclusion Bodies

Search CenterWatch for Familial Encephalopathy with Neuroserpin Inclusion Bodies

Genetic Tests for Familial Encephalopathy with Neuroserpin Inclusion Bodies

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20GeneTests, 22GTR
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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 Bodies20 22 SERPINI1

Anatomical Context for Familial Encephalopathy with Neuroserpin Inclusion Bodies

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33MalaCards
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MalaCards organs/tissues related to Familial Encephalopathy with Neuroserpin Inclusion Bodies:

33
Brain

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

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28inGenious Targeting Laboratory
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Publications for Familial Encephalopathy with Neuroserpin Inclusion Bodies

Genetic Variations for Familial Encephalopathy with Neuroserpin Inclusion Bodies

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Familial Encephalopathy with Neuroserpin Inclusion Bodies:

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

Expression for genes affiliated with Familial Encephalopathy with Neuroserpin Inclusion Bodies

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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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12EMD Millipore
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Pathways related to Familial Encephalopathy with Neuroserpin Inclusion Bodies according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Cell adhesion ECM remodeling
Hide members
9.4SERPINE1, SERPINE2

Compounds for genes affiliated with Familial Encephalopathy with Neuroserpin Inclusion Bodies

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45Novoseek
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Compounds related to Familial Encephalopathy with Neuroserpin Inclusion Bodies according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1serine458.2SERPINB7, SERPINI1, SERPINE1, SERPINE2

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

Sources:
16Gene Ontology
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Cellular components related to Familial Encephalopathy with Neuroserpin Inclusion Bodies according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:0310129.4SERPINE1, SERPINE2
2extracellular spaceGO:0056156.8SERPINB7, SERPINI1, SERPINE3, SERPINE1, SERPINI2, SERPINE2

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of blood coagulationGO:0301959.4SERPINE1, SERPINE2
2negative regulation of plasminogen activationGO:0107579.1SERPINE1, SERPINE2
3regulation of proteolysisGO:0301628.1SERPINI2, SERPINE3, SERPINB7, SERPINI1
4negative regulation of endopeptidase activityGO:0109517.1SERPINE2, SERPINI2, SERPINE1, SERPINE3, SERPINI1, SERPINB7

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

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase inhibitor activityGO:0048677.1SERPINB7, SERPINI1, SERPINE3, SERPINE1, SERPINI2, SERPINE2

Products for genes affiliated with Familial Encephalopathy with Neuroserpin Inclusion Bodies

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Sources for Familial Encephalopathy with Neuroserpin Inclusion Bodies

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet