FENIB
MCID: FML059
MIFTS: 33

Familial Encephalopathy with Neuroserpin Inclusion Bodies (FENIB) malady

Neuronal diseases, Genetic diseases categories

Summaries for Familial Encephalopathy with Neuroserpin Inclusion Bodies

About this section
Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 dementia and stroke, ischemic. 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:63 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

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

familial encephalopathy with neuroserpin inclusion bodies 42 20 22 21 48 60
fenib 42 21 44 48
encephalopathy, familial, with neuroserpin inclusion bodies 46
familial dementia with neuroserpin inclusion bodies 21
encephalopathy, familial, with collins bodies 42


External Ids:

OMIM46 604218
MESH via Orphanet35 C536841
ICD10 via Orphanet26 G31.8
UMLS via Orphanet61 C1858680

Related Diseases for Familial Encephalopathy with Neuroserpin Inclusion Bodies

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

idRelated DiseaseScoreTop Affiliating Genes
1dementia10.4
2stroke, ischemic10.0SERPINE1
3pulmonary disease, chronic obstructive10.0SERPINE2
4focal segmental glomerulosclerosis10.0SERPINB7, SERPINE1
5diabetic nephropathy10.0SERPINB7, SERPINE1

Graphical network of diseases related to Familial Encephalopathy with Neuroserpin Inclusion Bodies:



Diseases related to familial encephalopathy with neuroserpin inclusion bodies

Clinical Features for Familial Encephalopathy with Neuroserpin Inclusion Bodies

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

604218

Clinical synopsis from OMIM:

604218

Drugs & Therapeutics for Familial Encephalopathy with Neuroserpin Inclusion Bodies

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
32MalaCards
See all sources

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

About this section

Publications for Familial Encephalopathy with Neuroserpin Inclusion Bodies

About this section

Genetic Variations for Familial Encephalopathy with Neuroserpin Inclusion Bodies

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Familial Encephalopathy with Neuroserpin Inclusion Bodies:

62
id Symbol AA change Variation ID SNP ID
1SERPINI1p.Ser49ProVAR_008520
2SERPINI1p.Ser52ArgVAR_008521

Expression for genes affiliated with Familial Encephalopathy with Neuroserpin Inclusion Bodies

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
12EMD Millipore
See all sources

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

About this section
Sources:
44Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1serine448.2SERPINB7, SERPINI1, SERPINE1, SERPINE2

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

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Encephalopathy with Neuroserpin Inclusion Bodies

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet