MCID: ENC039
MIFTS: 30

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:
49OMIM, 11diseasecard, 67UniProtKB/Swiss-Prot, 10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 47Novoseek, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

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

Name: Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 49 11 67
Familial Encephalopathy with Neuroserpin Inclusion Bodies 10 45 22 23 12 51 24 65
Fenib 10 45 22 23 47 51 67
 
Familial Dementia with Neuroserpin Inclusion Bodies 23
Encephalopathy, Familial, with Collins Bodies 45
Familial Encephalopathy with Collins Bodies 67

Characteristics:

Orphanet epidemiological data:

51
familial encephalopathy with neuroserpin inclusion bodies:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult

HPO:

61
encephalopathy, familial, with neuroserpin inclusion bodies:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 604218
Disease Ontology10 DOID:0050831
Orphanet51 85110
ICD10 via Orphanet28 G31.8
MESH via Orphanet37 C536841
UMLS via Orphanet66 C1858680
MedGen34 C1858680
MeSH36 D020271
UMLS65 C1858680

Summaries for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

About this section
Genetics Home Reference:23 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 multiple system atrophy and leukemia, and has symptoms including distal sensory impairment, neuronal loss in central nervous system and gliosis. An important gene associated with Encephalopathy, Familial, with Neuroserpin Inclusion Bodies is SERPINI1 (Serpin Family I Member 1). Affiliated tissues include brain and cortex.

Disease Ontology:10 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:67 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:49 604218

Related Diseases for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

About this section

Graphical network of 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

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

(show all 12)
id Description Frequency HPO Source Accession
1 distal sensory impairment HP:0002936
2 neuronal loss in central nervous system HP:0002529
3 gliosis HP:0002171
4 abnormality of extrapyramidal motor function HP:0002071
5 cerebral atrophy HP:0002059
6 myoclonus HP:0001336
7 encephalopathy HP:0001298
8 dysarthria HP:0001260
9 seizures HP:0001250
10 dementia HP:0000726
11 diplopia HP:0000651
12 nystagmus HP:0000639

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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1AstragalusNutraceutical48

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

About this section

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

id Genetic test Affiliating Genes
1 Familial Encephalopathy with Neuroserpin Inclusion Bodies22 SERPINI1

Anatomical Context for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

About this section

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

33
Brain, Cortex

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:

67
id Symbol AA change Variation ID SNP ID
1SERPINI1p.Ser49ProVAR_008520
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

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

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

Sources for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet