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

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 51 69 12
Familial Encephalopathy with Neuroserpin Inclusion Bodies 11 47 24 25 53 26 13 67
Fenib 11 47 24 25 53 69 49
 
Familial Dementia with Neuroserpin Inclusion Bodies 25
Encephalopathy, Familial, with Collins Bodies 47
Familial Encephalopathy with Collins Bodies 69

Characteristics:

Orphanet epidemiological data:

53
familial encephalopathy with neuroserpin inclusion bodies:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult

HPO:

63
encephalopathy, familial, with neuroserpin inclusion bodies:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 604218
Disease Ontology11 DOID:0050831
Orphanet53 ORPHA85110
MESH via Orphanet39 C536841
UMLS via Orphanet68 C1858680
ICD10 via Orphanet30 G31.8
MedGen36 C1858680
MeSH38 D020271

Summaries for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

About this section
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:69 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:70 Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a progressive disorder of the... more...

Description from OMIM:51 604218

Related Diseases for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

About this section

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

About this section

Symptoms by clinical synopsis from OMIM:

604218

Clinical features from OMIM:

604218

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

 63 (show all 12)
id Description HPO Frequency HPO Source Accession
1 nystagmus63 HP:0000639
2 diplopia63 HP:0000651
3 dementia63 HP:0000726
4 seizures63 HP:0001250
5 dysarthria63 HP:0001260
6 encephalopathy63 HP:0001298
7 myoclonus63 HP:0001336
8 cerebral atrophy63 HP:0002059
9 abnormality of extrapyramidal motor function63 HP:0002071
10 gliosis63 HP:0002171
11 neuronal loss in central nervous system63 HP:0002529
12 distal sensory impairment63 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

About this section

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

About this section

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

id Genetic test Affiliating Genes
1 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies26
2 Familial Encephalopathy with Neuroserpin Inclusion Bodies24 SERPINI1

Anatomical Context for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

About this section

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

35
Cortex, Brain

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

About this section

Publications for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

About this section

Variations for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

About this section

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

69
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

About this section
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

About this section

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

About this section

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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet