FENIB
MCID: ENC039
MIFTS: 46

Encephalopathy, Familial, with Neuroserpin Inclusion Bodies (FENIB)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

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

MalaCards integrated aliases for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies:

Name: Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 57 72 29 13 6
Familial Encephalopathy with Neuroserpin Inclusion Bodies 12 20 43 58 36 44 15 70
Fenib 57 12 20 43 58 72 54
Encephalopathy, Familial, with Collins Bodies 57 20
Familial Dementia with Neuroserpin Inclusion Bodies 43
Familial Encephalopathy with Collins Bodies 72

Characteristics:

Orphanet epidemiological data:

58
familial encephalopathy with neuroserpin inclusion bodies
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable age at onset, ranges from third to fifth decade of life
variable severity that correlates with rate and magnitude of neuronal protein accumulation
some patients show rapid disease progression


HPO:

31
encephalopathy, familial, with neuroserpin inclusion bodies:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050831
OMIM® 57 604218
KEGG 36 H01212
MESH via Orphanet 45 C536841
ICD10 via Orphanet 33 G31.8
UMLS via Orphanet 71 C1858680
Orphanet 58 ORPHA85110
MedGen 41 C1858680
UMLS 70 C1858680

Summaries for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

MedlinePlus Genetics : 43 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.The signs and symptoms of FENIB vary in their severity and age of onset. In severe cases, the condition causes seizures and episodes of sudden, involuntary muscle jerking or twitching (myoclonus) in addition to dementia. These signs can appear as early as a person's teens. Less severe cases are characterized by a progressive decline in intellectual functioning beginning in a person's forties or fifties.

MalaCards based summary : Encephalopathy, Familial, with Neuroserpin Inclusion Bodies, also known as familial encephalopathy with neuroserpin inclusion bodies, is related to progressive dementia with neuroserpin inclusion bodies and progressive myoclonic epilepsy with neuroserpin inclusion bodies, and has symptoms including seizures, myoclonus and abnormality of extrapyramidal motor function. An important gene associated with Encephalopathy, Familial, with Neuroserpin Inclusion Bodies is SERPINI1 (Serpin Family I Member 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Formation of Fibrin Clot (Clotting Cascade). Affiliated tissues include cortex, heart and liver, and related phenotypes are nystagmus and diplopia

Disease Ontology : 12 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.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85110 Definition A rare serpinopathy characterized by progressive myoclonus epilepsy and/or pre-senile dementia with prominent frontal-lobe features and relative sparing of recall memory. In addition, other neurological manifestations like cerebellar symptoms and pyramidal signs may be present. Age of onset is variable, the disease having been reported in children as well as elderly patients. Neuropathological examination reveals the typical neuronal inclusions of mutated neuroserpin (Collins bodies).

KEGG : 36 Familial encephalopathy with neuroserpin inclusion bodies (FEBIB) is an autosomal dominant dementia that is characterized by the accumulation of mutant neuroserpin as periodic acid Schiff (PAS) positive diastase-resistant inclusions. Kindreds with FENIB present with presenile dementia and cognitive deficits.

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 604218

Related Diseases for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 progressive dementia with neuroserpin inclusion bodies 11.5
2 progressive myoclonic epilepsy with neuroserpin inclusion bodies 11.5
3 huntington disease 10.3
4 cerebral cavernous malformations 3 10.3 SERPINI1 PDCD10
5 liver sarcoma 10.3 SERPINA3 SERPINA1
6 adult xanthogranuloma 10.2 SERPINA3 SERPINA1
7 ovarian endometrial cancer 10.2 SERPINA3 SERPINA1
8 hereditary angioedema with normal c1inh 10.2 SERPINA1 PLAT
9 pancreatoblastoma 10.2 SERPINA3 SERPINA1
10 cerebral amyloid angiopathy, itm2b-related, 1 10.2 SERPINI1 SERPINA3
11 puerperal pulmonary embolism 10.2 SERPINC1 SERPINA1
12 lateral myocardial infarction 10.2 SERPINC1 SERPINA1
13 splenic infarction 10.2 SERPINC1 SERPINA3
14 fibrinolytic defect 10.2 SERPINC1 PLAT
15 intracranial embolism 10.2 SERPINC1 PLAT
16 anterior cerebral artery infarction 10.2 SERPINC1 PLAT
17 dementia 10.2
18 argentine hemorrhagic fever 10.2 SERPINC1 PLAT
19 central retinal artery occlusion 10.2 SERPINC1 PLAT
20 esophageal varix 10.2 SERPINC1 SERPINA1
21 papilledema 10.2 SERPINC1 SERPINA3
22 carotid artery thrombosis 10.2 SERPINC1 PLAT
23 coronary restenosis 10.1 SERPINC1 PLAT
24 post-thrombotic syndrome 10.1 SERPINC1 PLAT
25 plasma protein metabolism disease 10.1 SERPINA3 SERPINA1
26 mitral valve stenosis 10.1 SERPINC1 SERPINA3
27 intracranial thrombosis 10.1 SERPINC1 PLAT
28 purpura fulminans 10.1 SERPINC1 SERPINA1
29 acinar cell carcinoma 10.1 SERPINA3 SERPINA1
30 thrombophlebitis 10.1 SERPINC1 PLAT
31 siderosis 10.1 SERPINA3 SERPINA1
32 encephalopathy 10.1
33 central retinal vein occlusion 10.1 SERPINC1 PLAT
34 coronary thrombosis 10.1 SERPINC1 PLAT
35 platelet aggregation, spontaneous 10.0 SERPINC1 SERPINA3 PLAT
36 leech infestation 10.0 SERPIND1 SERPINC1
37 pulmonary artery disease 10.0 SERPINC1 SERPINA3 PLAT
38 vein disease 10.0 SERPINC1 SERPINA3 PLAT
39 intermediate coronary syndrome 10.0 SERPINC1 PLAT
40 protein-losing enteropathy 10.0 SERPINC1 SERPINA1
41 heart conduction disease 10.0 SERPINC1 SERPINA3 PLAT
42 portal vein thrombosis 10.0 SERPINC1 PLAT
43 epilepsy 9.9
44 acute myocardial infarction 9.9 SERPINC1 SERPINA3 PLAT
45 hepatic vascular disease 9.9 SERPINC1 SERPINA1
46 alpha-1-antitrypsin deficiency 9.9 SERPINI1 SERPINC1 SERPINA3 SERPINA1
47 heparin cofactor ii deficiency 9.9 SERPIND1 SERPINC1 SERPINA3
48 dysfibrinogenemia, congenital 9.9 SERPIND1 SERPINC1 PLAT
49 thrombophilia 9.8 SERPIND1 SERPINC1 PLAT
50 thrombosis 9.8 SERPIND1 SERPINC1 PLAT

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 & Phenotypes for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

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

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 diplopia 31 HP:0000651
3 dysarthria 31 HP:0001260
4 myoclonus 31 HP:0001336
5 abnormality of extrapyramidal motor function 31 HP:0002071
6 encephalopathy 31 HP:0001298
7 cerebral atrophy 31 HP:0002059
8 dementia 31 HP:0000726
9 distal sensory impairment 31 HP:0002936
10 neuronal loss in central nervous system 31 HP:0002529
11 gliosis 31 HP:0002171
12 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
dysarthria
myoclonus
cerebral atrophy
dementia
more
Neurologic Peripheral Nervous System:
mild distal sensory impairment

Head And Neck Eyes:
nystagmus
diplopia

Clinical features from OMIM®:

604218 (Updated 20-May-2021)

UMLS symptoms related to Encephalopathy, Familial, with Neuroserpin Inclusion Bodies:


seizures; myoclonus; abnormality of extrapyramidal motor function

GenomeRNAi Phenotypes related to Encephalopathy, Familial, with Neuroserpin Inclusion Bodies according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.55 RPS3A UBB
2 Decreased viability GR00240-S-1 9.55 RPS3A
3 Decreased viability GR00249-S 9.55 RPS3A SERPINI2 UBB
4 Decreased viability GR00381-A-1 9.55 PLAT PSMD4 RPS3A SERPINI1 SERPINI2 UBB
5 Decreased viability GR00386-A-1 9.55 RPS3A UBB
6 Decreased viability GR00402-S-2 9.55 PSMD4 RPS3A UBB

Drugs & Therapeutics for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical, Molecular and Biochemical Characterization of Familial Encephalopathy With Neuroserpin Inclusion Bodies Completed NCT00006176

Search NIH Clinical Center for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

Cochrane evidence based reviews: familial encephalopathy with neuroserpin inclusion bodies

Genetic Tests for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

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

# Genetic test Affiliating Genes
1 Encephalopathy, Familial, with Neuroserpin Inclusion Bodies 29 SERPINI1

Anatomical Context for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

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

40
Cortex, Heart, Liver

Publications for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

Articles related to Encephalopathy, Familial, with Neuroserpin Inclusion Bodies:

(show all 48)
# Title Authors PMID Year
1
Mutant Neuroserpin (S49P) that causes familial encephalopathy with neuroserpin inclusion bodies is a poor proteinase inhibitor and readily forms polymers in vitro. 54 61 6 57
11880376 2002
2
Neuroserpin mutation causes electrical status epilepticus of slow-wave sleep. 57 6
18591508 2008
3
Association between conformational mutations in neuroserpin and onset and severity of dementia. 6 57
12103288 2002
4
Neuroserpin mutation S52R causes neuroserpin accumulation in neurons and is associated with progressive myoclonus epilepsy. 57 6
11138927 2000
5
A rat model of human FENIB (familial encephalopathy with neuroserpin inclusion bodies). 54 61 57
16782060 2006
6
Mutants of neuroserpin that cause dementia accumulate as polymers within the endoplasmic reticulum. 6 61 54
15090543 2004
7
Cognitive deficits associated with a recently reported familial neurodegenerative disease: familial encephalopathy with neuroserpin inclusion bodies. 54 57 61
11559315 2001
8
Extracellular proteases and their inhibitors in genetic diseases of the central nervous system. 57
12925575 2003
9
Familial dementia caused by polymerization of mutant neuroserpin. 57
10517635 1999
10
The 2.1-A crystal structure of native neuroserpin reveals unique structural elements that contribute to conformational instability. 61 54
19285087 2009
11
Mutation-, aging-, and gene dosage-dependent accumulation of neuroserpin (G392E) in endoplasmic reticula and lysosomes of neurons in transgenic mice. 61 54
18940798 2008
12
Protein misfolding and the serpinopathies. 54 61
19164889 2007
13
Sugar and alcohol molecules provide a therapeutic strategy for the serpinopathies that cause dementia and cirrhosis. 61 54
16704419 2006
14
Neuroserpin: a serpin to think about. 61 54
16465451 2006
15
Molecular mousetraps, alpha1-antitrypsin deficiency and the serpinopathies. 54 61
16011217 2005
16
Latent S49P neuroserpin forms polymers in the dementia familial encephalopathy with neuroserpin inclusion bodies. 61 54
15664988 2005
17
Polymerisation underlies alpha1-antitrypsin deficiency, dementia and other serpinopathies. 54 61
15353322 2004
18
Neuroserpin Portland (Ser52Arg) is trapped as an inactive intermediate that rapidly forms polymers: implications for the epilepsy seen in the dementia FENIB. 54 61
15291813 2004
19
Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies. 61 54
14694355 2004
20
[Familial non-Alzheimer dementia]. 61 54
15152461 2003
21
Familial encephalopathy with neuroserpin inclusion bodies. 54 61
10595921 1999
22
Contrasting conformational dynamics of β-sheet A and helix F with implications in neuroserpin inhibition and aggregation. 61
33516851 2021
23
Embelin as Lead Compound for New Neuroserpin Polymerization Inhibitors. 61
32664592 2020
24
Glycosylation Tunes Neuroserpin Physiological and Pathological Properties. 61
32375228 2020
25
Calcium signalling in mammalian cell lines expressing wild type and mutant human α1-Antitrypsin. 61
31754242 2019
26
Cellular Models for the Serpinopathies. 61
30194596 2018
27
Neuroserpin polymers cause oxidative stress in a neuronal model of the dementia FENIB. 61
28363799 2017
28
Polymer toxicity in neurodegeneration FENIB. 61
28496011 2017
29
Cholesterol impairment contributes to neuroserpin aggregation. 61
28255164 2017
30
Physiological and pathological functions of neuroserpin: Regulation of cellular responses through multiple mechanisms. 61
27639894 2017
31
Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis). 61
27618835 2016
32
Limited Unfolded Protein Response and Inflammation in Neuroserpinopathy. 61
26733586 2016
33
Embelin binds to human neuroserpin and impairs its polymerisation. 61
26732982 2016
34
Interactions between N-linked glycosylation and polymerisation of neuroserpin within the endoplasmic reticulum. 61
26367528 2015
35
The stability and activity of human neuroserpin are modulated by a salt bridge that stabilises the reactive centre loop. 61
26329378 2015
36
The aggregation-prone intracellular serpin SRP-2 fails to transit the ER in Caenorhabditis elegans. 61
25786854 2015
37
Functional and dysfunctional conformers of human neuroserpin characterized by optical spectroscopies and Molecular Dynamics. 61
25450507 2015
38
Lectin OS-9 delivers mutant neuroserpin to endoplasmic reticulum associated degradation in familial encephalopathy with neuroserpin inclusion bodies. 61
24795221 2014
39
Magnetic Properties of FeNi-Based Thin Film Materials with Different Additives. 61
25587418 2014
40
Sterol metabolism regulates neuroserpin polymer degradation in the absence of the unfolded protein response in the dementia FENIB. 61
23814041 2013
41
A novel interaction between aging and ER overload in a protein conformational dementia. 61
23335331 2013
42
Sorafenib in elderly patients with advanced hepatocellular carcinoma: a case series. 61
23428832 2013
43
The tempered polymerization of human neuroserpin. 61
22412873 2012
44
Characterisation of serpin polymers in vitro and in vivo. 61
21115126 2011
45
The serpinopathies studying serpin polymerization in vivo. 61
22078544 2011
46
Endoplasmic reticulum-associated degradation (ERAD) and autophagy cooperate to degrade polymerogenic mutant serpins. 61
19549782 2009
47
The intracellular accumulation of polymeric neuroserpin explains the severity of the dementia FENIB. 61
18267959 2008
48
Familial conformational diseases and dementias. 61
12112652 2002

Variations for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

ClinVar genetic disease variations for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies:

6 (show top 50) (show all 118)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SERPINI1 NM_005025.4(SERPINI1):c.145T>C (p.Ser49Pro) SNV Pathogenic 7086 rs121909051 GRCh37: 3:167507061-167507061
GRCh38: 3:167789273-167789273
2 SERPINI1 NM_005025.4(SERPINI1):c.1013A>G (p.His338Arg) SNV Pathogenic 7088 rs121909052 GRCh37: 3:167540807-167540807
GRCh38: 3:167823019-167823019
3 SERPINI1 NM_005025.4(SERPINI1):c.1175G>A (p.Gly392Glu) SNV Pathogenic 7089 rs121909053 GRCh37: 3:167543053-167543053
GRCh38: 3:167825265-167825265
4 SERPINI1 NM_005025.4(SERPINI1):c.1174G>A (p.Gly392Arg) SNV Pathogenic 7090 rs121909054 GRCh37: 3:167543052-167543052
GRCh38: 3:167825264-167825264
5 SERPINI1 NM_005025.4(SERPINI1):c.154A>C (p.Ser52Arg) SNV Pathogenic 7087 rs1577418477 GRCh37: 3:167507070-167507070
GRCh38: 3:167789282-167789282
6 SERPINI1 NM_005025.4(SERPINI1):c.281C>T (p.Ser94Leu) SNV Conflicting interpretations of pathogenicity 344124 rs781486255 GRCh37: 3:167508190-167508190
GRCh38: 3:167790402-167790402
7 SERPINI1 NM_001122752.2(SERPINI1):c.674A>G (p.Tyr225Cys) SNV Uncertain significance 1036215 GRCh37: 3:167510570-167510570
GRCh38: 3:167792782-167792782
8 SERPINI1 NM_001122752.2(SERPINI1):c.340G>T (p.Val114Leu) SNV Uncertain significance 1036523 GRCh37: 3:167508249-167508249
GRCh38: 3:167790461-167790461
9 SERPINI1 NM_001122752.2(SERPINI1):c.963T>A (p.Asn321Lys) SNV Uncertain significance 1039088 GRCh37: 3:167525113-167525113
GRCh38: 3:167807325-167807325
10 SERPINI1 NM_001122752.2(SERPINI1):c.350G>A (p.Gly117Glu) SNV Uncertain significance 1039743 GRCh37: 3:167508259-167508259
GRCh38: 3:167790471-167790471
11 SERPINI1 NM_001122752.2(SERPINI1):c.1184T>C (p.Met395Thr) SNV Uncertain significance 1042562 GRCh37: 3:167543062-167543062
GRCh38: 3:167825274-167825274
12 SERPINI1 NM_001122752.2(SERPINI1):c.107G>A (p.Arg36His) SNV Uncertain significance 1047456 GRCh37: 3:167507023-167507023
GRCh38: 3:167789235-167789235
13 SERPINI1 NM_005025.4(SERPINI1):c.286A>G (p.Met96Val) SNV Uncertain significance 534954 rs372528371 GRCh37: 3:167508195-167508195
GRCh38: 3:167790407-167790407
14 SERPINI1 NM_005025.4(SERPINI1):c.508A>G (p.Arg170Gly) SNV Uncertain significance 570487 rs774989939 GRCh37: 3:167510404-167510404
GRCh38: 3:167792616-167792616
15 SERPINI1 NM_001122752.2(SERPINI1):c.917T>C (p.Val306Ala) SNV Uncertain significance 845018 GRCh37: 3:167525067-167525067
GRCh38: 3:167807279-167807279
16 SERPINI1 NM_001122752.2(SERPINI1):c.55G>A (p.Ala19Thr) SNV Uncertain significance 847169 GRCh37: 3:167506971-167506971
GRCh38: 3:167789183-167789183
17 SERPINI1 NM_001122752.2(SERPINI1):c.10C>T (p.Leu4Phe) SNV Uncertain significance 1052211 GRCh37: 3:167506926-167506926
GRCh38: 3:167789138-167789138
18 SERPINI1 NM_001122752.2(SERPINI1):c.1173G>C (p.Met391Ile) SNV Uncertain significance 1056218 GRCh37: 3:167543051-167543051
GRCh38: 3:167825263-167825263
19 SERPINI1 NM_001122752.2(SERPINI1):c.144C>A (p.Phe48Leu) SNV Uncertain significance 1059850 GRCh37: 3:167507060-167507060
GRCh38: 3:167789272-167789272
20 SERPINI1 NM_001122752.2(SERPINI1):c.217C>G (p.Arg73Gly) SNV Uncertain significance 1061057 GRCh37: 3:167507133-167507133
GRCh38: 3:167789345-167789345
21 SERPINI1 NM_005025.4(SERPINI1):c.1173G>A (p.Met391Ile) SNV Uncertain significance 640101 rs1370761997 GRCh37: 3:167543051-167543051
GRCh38: 3:167825263-167825263
22 SERPINI1 NM_005025.4(SERPINI1):c.221A>G (p.His74Arg) SNV Uncertain significance 640378 rs757918199 GRCh37: 3:167507137-167507137
GRCh38: 3:167789349-167789349
23 SERPINI1 NM_005025.4(SERPINI1):c.53G>C (p.Gly18Ala) SNV Uncertain significance 649612 rs577994777 GRCh37: 3:167506969-167506969
GRCh38: 3:167789181-167789181
24 SERPINI1 NM_005025.4(SERPINI1):c.881+4T>G SNV Uncertain significance 657482 rs766034834 GRCh37: 3:167512616-167512616
GRCh38: 3:167794828-167794828
25 SERPINI1 NM_005025.4(SERPINI1):c.388A>C (p.Lys130Gln) SNV Uncertain significance 659213 rs967193064 GRCh37: 3:167508297-167508297
GRCh38: 3:167790509-167790509
26 SERPINI1 NM_005025.4(SERPINI1):c.1186C>T (p.His396Tyr) SNV Uncertain significance 567188 rs750646140 GRCh37: 3:167543064-167543064
GRCh38: 3:167825276-167825276
27 SERPINI1 NM_005025.4(SERPINI1):c.1117G>A (p.Asp373Asn) SNV Uncertain significance 569211 rs767865960 GRCh37: 3:167542311-167542311
GRCh38: 3:167824523-167824523
28 SERPINI1 NM_005025.4(SERPINI1):c.1039G>T (p.Glu347Ter) SNV Uncertain significance 575577 rs1560020073 GRCh37: 3:167540833-167540833
GRCh38: 3:167823045-167823045
29 SERPINI1 NM_001122752.2(SERPINI1):c.586C>T (p.Pro196Ser) SNV Uncertain significance 976013 GRCh37: 3:167510482-167510482
GRCh38: 3:167792694-167792694
30 SERPINI1 NM_005025.4(SERPINI1):c.-335G>A SNV Uncertain significance 344114 rs886058166 GRCh37: 3:167453607-167453607
GRCh38: 3:167735819-167735819
31 SERPINI1 NM_005025.4(SERPINI1):c.-283C>T SNV Uncertain significance 344115 rs886058167 GRCh37: 3:167453659-167453659
GRCh38: 3:167735871-167735871
32 PDCD10 , SERPINI1 NM_001122752.1(SERPINI1):c.-84_-80GGAGC[3] Microsatellite Uncertain significance 344113 rs886058165 GRCh37: 3:167453541-167453542
GRCh38: 3:167735753-167735754
33 SERPINI1 NM_005025.4(SERPINI1):c.410A>G (p.Asn137Ser) SNV Uncertain significance 344127 rs886058168 GRCh37: 3:167508319-167508319
GRCh38: 3:167790531-167790531
34 SERPINI1 NM_005025.4(SERPINI1):c.1221C>A (p.Phe407Leu) SNV Uncertain significance 534955 rs149238028 GRCh37: 3:167543099-167543099
GRCh38: 3:167825311-167825311
35 SERPINI1 NM_005025.4(SERPINI1):c.914A>C (p.Asp305Ala) SNV Uncertain significance 534957 rs756818970 GRCh37: 3:167525064-167525064
GRCh38: 3:167807276-167807276
36 SERPINI1 NM_005025.4(SERPINI1):c.*172T>A SNV Uncertain significance 344134 rs886058170 GRCh37: 3:167543283-167543283
GRCh38: 3:167825495-167825495
37 SERPINI1 NM_005025.4(SERPINI1):c.482A>T (p.Asn161Ile) SNV Uncertain significance 466618 rs1553774731 GRCh37: 3:167510378-167510378
GRCh38: 3:167792590-167792590
38 SERPINI1 NM_005025.4(SERPINI1):c.760A>C (p.Met254Leu) SNV Uncertain significance 466620 rs1553774956 GRCh37: 3:167512491-167512491
GRCh38: 3:167794703-167794703
39 SERPINI1 NM_005025.4(SERPINI1):c.843C>G (p.Asn281Lys) SNV Uncertain significance 466622 rs1553774967 GRCh37: 3:167512574-167512574
GRCh38: 3:167794786-167794786
40 SERPINI1 NM_005025.4(SERPINI1):c.166G>T (p.Ala56Ser) SNV Uncertain significance 466612 rs1050971384 GRCh37: 3:167507082-167507082
GRCh38: 3:167789294-167789294
41 SERPINI1 NM_005025.4(SERPINI1):c.106C>T (p.Arg36Cys) SNV Uncertain significance 466611 rs61735306 GRCh37: 3:167507022-167507022
GRCh38: 3:167789234-167789234
42 SERPINI1 NM_005025.4(SERPINI1):c.439G>A (p.Val147Met) SNV Uncertain significance 575480 rs772999261 GRCh37: 3:167508348-167508348
GRCh38: 3:167790560-167790560
43 SERPINI1 NM_005025.4(SERPINI1):c.526A>G (p.Thr176Ala) SNV Uncertain significance 581921 rs762427588 GRCh37: 3:167510422-167510422
GRCh38: 3:167792634-167792634
44 SERPINI1 NC_000003.12:g.(?_167822966)_(167825343_?)del Deletion Uncertain significance 833189 GRCh37: 3:167540754-167543131
GRCh38:
45 overlap with 2 genes NC_000003.12:g.(?_167684288)_(167825343_?)dup Duplication Uncertain significance 833442 GRCh37: 3:167402076-167543131
GRCh38:
46 SERPINI1 NM_005025.4(SERPINI1):c.770T>C (p.Leu257Pro) SNV Uncertain significance 840108 GRCh37: 3:167512501-167512501
GRCh38: 3:167794713-167794713
47 SERPINI1 NM_005025.4(SERPINI1):c.456T>G (p.Asn152Lys) SNV Uncertain significance 841319 GRCh37: 3:167508365-167508365
GRCh38: 3:167790577-167790577
48 SERPINI1 NM_005025.4(SERPINI1):c.161C>T (p.Ala54Val) SNV Uncertain significance 344122 rs769948709 GRCh37: 3:167507077-167507077
GRCh38: 3:167789289-167789289
49 SERPINI1 NM_005025.4(SERPINI1):c.*197T>C SNV Uncertain significance 344135 rs532826558 GRCh37: 3:167543308-167543308
GRCh38: 3:167825520-167825520
50 SERPINI1 NM_005025.4(SERPINI1):c.959C>G (p.Ala320Gly) SNV Uncertain significance 344132 rs886058169 GRCh37: 3:167525109-167525109
GRCh38: 3:167807321-167807321

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

72
# Symbol AA change Variation ID SNP ID
1 SERPINI1 p.Ser49Pro VAR_008520 rs121909051
2 SERPINI1 p.Ser52Arg VAR_008521

Expression for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

Search GEO for disease gene expression data for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies.

Pathways for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

GO Terms for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

Cellular components related to Encephalopathy, Familial, with Neuroserpin Inclusion Bodies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.8 SERPINI2 SERPINI1 SERPIND1 SERPINC1 SERPINA3 SERPINA1
2 extracellular space GO:0005615 9.56 UBB SERPINI2 SERPINI1 SERPIND1 SERPINC1 SERPINA3
3 collagen-containing extracellular matrix GO:0062023 9.46 SERPINC1 SERPINA3 SERPINA1 PLAT
4 COPII-coated ER to Golgi transport vesicle GO:0030134 9.32 SERPINA1 GOLGA2
5 extracellular exosome GO:0070062 9.32 UBB SERPINI2 SERPINI1 SERPIND1 SERPINC1 SERPINA3

Biological processes related to Encephalopathy, Familial, with Neuroserpin Inclusion Bodies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.67 SERPIND1 SERPINC1 SERPINA1 PSMD4
2 cellular protein metabolic process GO:0044267 9.62 UBB SERPIND1 SERPINC1 SERPINA1
3 blood coagulation GO:0007596 9.46 SERPIND1 SERPINC1 SERPINA1 PLAT
4 hemostasis GO:0007599 9.43 SERPIND1 SERPINC1 SERPINA1
5 negative regulation of endopeptidase activity GO:0010951 9.43 SERPINI2 SERPINI1 SERPIND1 SERPINC1 SERPINA3 SERPINA1
6 acute-phase response GO:0006953 9.4 SERPINA3 SERPINA1
7 negative regulation of peptidase activity GO:0010466 9.1 SERPINI2 SERPINI1 SERPIND1 SERPINC1 SERPINA3 SERPINA1

Molecular functions related to Encephalopathy, Familial, with Neuroserpin Inclusion Bodies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase inhibitor activity GO:0030414 9.43 SERPINI2 SERPINI1 SERPIND1 SERPINC1 SERPINA3 SERPINA1
2 serine-type endopeptidase inhibitor activity GO:0004867 9.1 SERPINI2 SERPINI1 SERPIND1 SERPINC1 SERPINA3 SERPINA1

Sources for Encephalopathy, Familial, with Neuroserpin Inclusion Bodies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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45 MESH via Orphanet
46 MGI
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50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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