MCID: ENC039
MIFTS: 22

Encephalopathy, Familial, with Neuroserpin Inclusion Bodies malady

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

Aliases & Classifications for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

About this section
Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

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

Name: Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 45 10
Familial Encephalopathy with Neuroserpin Inclusion Bodies 9 41 20 21 47 22 60
Fenib 9 41 21 43 47
 
Familial Dementia with Neuroserpin Inclusion Bodies 21
Encephalopathy, Familial, with Collins Bodies 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
familial encephalopathy with neuroserpin inclusion bodies:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult


External Ids:

OMIM45 604218
Disease Ontology9 DOID:0050831
Orphanet47 85110
MESH via Orphanet34 C536841
ICD10 via Orphanet26 G31.8
UMLS via Orphanet61 C1858680

Summaries for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

About this section


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 based summary: Encephalopathy, Familial, with Neuroserpin Inclusion Bodies, also known as familial encephalopathy with neuroserpin inclusion bodies, is related to dementia, and has symptoms including autosomal dominant inheritance, nystagmus and diplopia. An important gene associated with Encephalopathy, Familial, with Neuroserpin Inclusion Bodies is SERPINI1 (serpin peptidase inhibitor, clade I (neuroserpin), member 1). 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.

Description from OMIM:45 604218

Related Diseases for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1dementia10.5

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 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 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

About this section

Drug clinical trials:

Search ClinicalTrials for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

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 Bodies20 22 SERPINI1

Anatomical Context for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

About this section

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

31
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:

62
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:

6
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

Compounds 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

Products for genes affiliated with Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet