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NIID
MCID: NRN008
MIFTS: 44

Neuronal Intranuclear Inclusion Disease (NIID) malady

Neuronal category
18 symptoms, 14 genes, 1 tissue, 50 related diseases, clinical trials.

Summaries for Neuronal Intranuclear Inclusion Disease

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43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Neuronal intranuclear inclusion disease (niid) refers to a group of rare degenerative nerve diseases. signs and symptoms of niid are widespread, progressive, and usually begin in childhood. niid causes worsening of many of the body's activities, including balance, movement, talking, eating, and cognition. currently the cause of niid is not known. both sporadic and familial cases have been described. last updated: 8/17/2011

MalaCards: Neuronal Intranuclear Inclusion Disease, also known as neuronal intranuclear hyaline inclusion disease, is related to autonomic neuropathy and cerebellar degeneration, and has symptoms including scoliosis, eeg anomalies and hypertonia/spasticity/rigidity/stiffness. An important gene associated with Neuronal Intranuclear Inclusion Disease is RPS27A (ribosomal protein S27a), and among its related pathways are Sumoylation by RanBP2 regulates transcriptional repression and EGFR1 Signaling Pathway. The compounds pic 1 and thioflavin have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are no phenotypic analysis and behavior/neurological.

Description from OMIM:47 603472

Aliases & Classifications for Neuronal Intranuclear Inclusion Disease

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Sources:
43NIH Rare Diseases, 45Novoseek, 49Orphanet, 47OMIM, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal
ICD10: 26


Characteristics (Orphanet epidemiological data):

49
neuronal intranuclear inclusion disease:
Age of onset: Variable


Aliases & Descriptions:

neuronal intranuclear inclusion disease 43 45 49 47 61
neuronal intranuclear hyaline inclusion disease 43
niid 43


External Ids:

OMIM47 603472
MESH via Orphanet36 C537395
ICD10 via Orphanet26 G31.0
UMLS via Orphanet62 C1863843

Related Diseases for Neuronal Intranuclear Inclusion Disease

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17GeneCards, 18GeneDecks
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Diseases related to Neuronal Intranuclear Inclusion Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1autonomic neuropathy10.4
2cerebellar degeneration10.3
3drug induced dyskinesia10.3
4transient cerebral ischemia10.0RPS27A
5rem sleep behavior disorder10.0SNCA
6spinocerebellar ataxia type 310.0ATXN3
7aphasia10.0MAPT
8myotonic dystrophy10.0MAPT
9herpes simplex10.0PML, RPS27A
10neuroaxonal dystrophy10.0RPS27A, SNCA
11spinocerebellar ataxia10.0ATXN3, ATXN1
12striatonigral degeneration10.0SNCA, RPS27A
13huntington's disease10.0ATXN1, ATXN3
14dysphagia10.0ATXN1, ATXN3
15dentatorubral-pallidoluysian atrophy10.0ATXN1, ATXN3
16primary progressive aphasia10.0MAPT, RPS27A
17friedreich ataxia10.0ATXN3, ATXN1
18semantic dementia10.0MAPT, RPS27A
19multiple sclerosis10.0HSP90AA1
20down syndrome10.0MAPT, SNCA
21olivopontocerebellar atrophy10.0ATXN3, ATXN1
22lewy body dementia10.0MAPT, SNCA
23spinocerebellar degeneration10.0RPS27A, ATXN3, ATXN1
24hereditary ataxia10.0ATXN3, ATXN1
25spinocerebellar ataxia type 1710.0ATXN3, ATXN1, ABT1
26inclusion body myositis10.0RPS27A, MAPT
27lateral sclerosis10.0SNCA, MAPT
28parkinson disease type 310.0SNCA, MAPT
29spinocerebellar ataxia type 1210.0ATXN3, ATXN1
30amyotrophic lateral sclerosis10.0MAPT, SNCA, RPS27A
31frontotemporal dementia10.0MAPT, SNCA, RPS27A
32dementia10.0RPS27A, SNCA, MAPT
33parkinson's disease10.0RPS27A, SNCA, MAPT
34progressive supranuclear palsy10.0MAPT, SNCA, RPS27A
35motor neuron disease10.0RPS27A, SNCA, MAPT
36tauopathy10.0RPS27A, SNCA, MAPT
37schizophrenia10.0ATXN1, SNCA, NSF
38vascular dementia10.0RPS27A, SNCA, MAPT
39creutzfeldt-jakob syndrome10.0MAPT, SNCA, RPS27A
40movement disease10.0MAPT, SNCA, RPS27A
41amyloidosis10.0RPS27A, SNCA, MAPT
42niemann-pick disease10.0MAPT, SNCA
43pick's disease10.0MAPT, SNCA, RPS27A
44influenza10.0HSP90AA1, PML
45myositis10.0MAPT, SNCA, RPS27A
46alzheimer's disease10.0RPS27A, APBA1, SNCA, MAPT
47prion disease10.0RPS27A, APBA1, SNCA, ATXN3, MAPT
48multiple system atrophy10.0RPS27A, SNCA, ATXN3, ATXN1, MAPT
49leukemia10.0PML, HSP90AA1, HDAC4, SUMO1
50viral infectious disease10.0PML, HSP90AA1, SNCA, SUMO1

Graphical network of the top 20 diseases related to Neuronal Intranuclear Inclusion Disease:



Diseases related to neuronal intranuclear inclusion disease

Clinical Features for Neuronal Intranuclear Inclusion Disease

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Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

603472

Symptoms:

49 (show all 18)
  • scoliosis
  • eeg anomalies
  • hypertonia/spasticity/rigidity/stiffness
  • hypereflexia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • nystagmus
  • ataxia/incoordination/trouble of the equilibrium
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • psychic/psychomotor regression/dementia/intellectual decline
  • psychic/behavioural troubles
  • abnormal vertebral size/shape
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • abnormal emg/electromyogram/electropmyography
  • movement disorder
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • anomaly of the pharynx/pharyngeal anomaly
  • spina bifida occulta

Drugs & Therapeutics for Neuronal Intranuclear Inclusion Disease

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Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Neuronal Intranuclear Inclusion Disease

Drug clinical trials:

Search ClinicalTrials for Neuronal Intranuclear Inclusion Disease

Search NIH Clinical Center for Neuronal Intranuclear Inclusion Disease

Search CenterWatch for Neuronal Intranuclear Inclusion Disease

Genetic Tests for Neuronal Intranuclear Inclusion Disease

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Anatomical Context for Neuronal Intranuclear Inclusion Disease

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33MalaCards
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MalaCards organs/tissues related to Neuronal Intranuclear Inclusion Disease:

33
Skin

Animal Models for Neuronal Intranuclear Inclusion Disease or affiliated genes

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Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Neuronal Intranuclear Inclusion Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1
no phenotypic analysis
MP:00030128.6MAPT, ATXN3, SNCA, APBA1, PML
2
behavior/neurological phenotype
MP:00053867.4APBA1, SNCA, ATXN3, ATXN1, HDAC4, MAPT
3
nervous system phenotype
MP:00036317.4APBA1, STXBP1, SNCA, ATXN3, ATXN1, HDAC4
4
mortality/aging
MP:00107686.7SUMO1, PML, HSP90AA1, APBA1, STXBP1, SNCA

Publications for Neuronal Intranuclear Inclusion Disease

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51PubMed
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Articles related to Neuronal Intranuclear Inclusion Disease:

(show all 40)
idTitleAuthorsYear
1
Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy. (24039026)
2013
2
Ubiquitin-related proteins in neuronal and glial intranuclear inclusions in intranuclear inclusion body disease. (22612509)
2012
3
Optineurin immunoreactivity in neuronal nuclear inclusions of polyglutamine diseases (Huntington's, DRPLA, SCA2, SCA3) and intranuclear inclusion body disease. (22318854)
2012
4
FUS immunoreactivity of neuronal and glial intranuclear inclusions in intranuclear inclusion body disease. (21883376)
2012
5
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease. (21411744)
2011
6
Neuronal intranuclear inclusion disease: no longer a pain in the butt. (21411743)
2011
7
Neuronal Intranuclear Inclusion Disease presenting as juvenile Parkinsonism. (20437931)
2010
8
Neuronal intranuclear inclusion disease: two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia. (20629123)
2010
9
Fatal worsening of late-onset cerebellar ataxia with neuronal intranuclear inclusions due to superimposed meningeal Rosai-Dorfman disease. (18546340)
2008
10
NSF, Unc-18-1, dynamin-1 and HSP90 are inclusion body components in neuronal intranuclear inclusion disease identified by anti-SUMO-1-immunocapture. (18836734)
2008
11
Neuronal intranuclear and neuropil inclusions for pathological assessment of Huntington's disease. (17493035)
2007
12
Familial frontotemporal dementia with neuronal intranuclear inclusions is not a polyglutamine expansion disease. (16945149)
2006
13
Neuronal intranuclear inclusion disease presenting as chronic intestinal pseudo-obstruction in the neonatal period in the absence of neurologic symptoms. (16540803)
2006
14
SUMOylation substrates in neuronal intranuclear inclusion disease. (16409557)
2006
15
Neuronal intranuclear inclusions are ultrastructurally and immunologically distinct from cytoplasmic inclusions of neuronal intermediate filament inclusion disease. (16025283)
2005
16
Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic neuropathy. (16301479)
2005
17
Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies. (15966005)
2005
18
Neuronal intranuclear inclusion disease without polyglutamine inclusions in a child. (15977647)
2005
19
Neuronal intranuclear inclusion disease in a horse. (15971054)
2005
20
Neuronal ubiquitinated intranuclear inclusions in familial and non-familial frontotemporal dementia of the motor neuron disease type associated with amyotrophic lateral sclerosis. (15330335)
2004
21
PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases. (12901837)
2003
22
Immunohistochemical study of neuronal intranuclear and cytoplasmic inclusions in Machado-Joseph disease. (12667168)
2003
23
SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease. (14637113)
2003
24
Influences of intranuclear inclusion on nuclear size - morphometric study on pontine neurons of neuronal intranuclear inclusion disease cases. (12536220)
2003
25
Intranuclear inclusions, neuronal loss and CAG mosaicism in two patients with Machado-Joseph disease. (12127671)
2002
26
Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration. (12164731)
2002
27
Recruitment of nonexpanded polyglutamine proteins to intranuclear aggregates in neuronal intranuclear hyaline inclusion disease. (11305872)
2001
28
Neuronal intranuclear inclusion disease and juvenile parkinsonism. (11009211)
2000
29
Neuronal intranuclear hyaline inclusion disease with polyglutamine-immunoreactive inclusions. (10805106)
2000
30
Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease. (10443897)
1999
31
Neuronal intranuclear inclusion disease: neuropathologic study of a case. (9760997)
1998
32
Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions. (9804114)
1998
33
Polyglutamine-containing aggregates in neuronal intranuclear inclusion disease. (9525376)
1998
34
Intranuclear neuronal inclusions in Huntington's disease and dentatorubral and pallidoluysian atrophy: correlation between the density of inclusions and IT15 CAG triplet repeat length. (9666478)
1998
35
Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case. (8787158)
1996
36
Cardiomyopathy and myocyte intranuclear inclusions in neuronal intranuclear inclusion disease: a case report. (1649120)
1991
37
Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy. (2405768)
1990
38
Neuronal intranuclear inclusion disease. Clinical ophthalmological features and ophthalmic pathology. (3028034)
1986
39
Neuronal intranuclear inclusion disease in two adult siblings. (2983603)
1985
40
Neuronal intranuclear inclusion disease in identical twins. (6331275)
1984

Genetic Variations for Neuronal Intranuclear Inclusion Disease

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Expression for genes affiliated with Neuronal Intranuclear Inclusion Disease

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neuronal Intranuclear Inclusion Disease

Search GEO for disease gene expression data for Neuronal Intranuclear Inclusion Disease.

Pathways for genes affiliated with Neuronal Intranuclear Inclusion Disease

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Sources:
38NCBI BioSystems Database, 12EMD Millipore, 30KEGG, 4Cell Signaling Technology
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Pathways related to Neuronal Intranuclear Inclusion Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Sumoylation by RanBP2 regulates transcriptional repression38
9.8SUMO1, HDAC4
2
EGFR1 Signaling Pathway38
9.6DNM1, SNCA, STXBP1
3
Signaling events mediated by HDAC Class II38
9.4SUMO1, HDAC4, HSP90AA1
4
Cytoskeleton remodeling Neurofilaments12
Hide members
9.3MAPT, STXBP1, APBA1
5
Synaptic vesicle cycle30
Hide members
9.1NSF, STXBP1, DNM1
6
Neuroscience4
8.1MAPT, ATXN1, SNCA, STXBP1, NSF

Compounds for genes affiliated with Neuronal Intranuclear Inclusion Disease

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Sources:
45Novoseek, 50PharmGKB, 60Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Neuronal Intranuclear Inclusion Disease according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1pic 14510.0PML, RPS27A, SUMO1
2thioflavin4510.0MAPT, SNCA
3tmao4510.0SNCA, MAPT
4fluorochrome459.9MAPT, RPS27A
5thioflavine s459.9RPS27A, SNCA, MAPT
6formate459.8MAPT, SNCA, RPS27A
7silver459.7MAPT, SNCA, RPS27A
8sodium dodecylsulfate459.7RPS27A, SNCA, MAPT
9geldanamycin45 50 60 1112.7RPS27A, HSP90AA1, SNCA
10camptothecin45 60 1111.5SUMO1, HSP90AA1, RPS27A, PML
11arsenite45 2410.5HSP90AA1, RPS27A, PML
12valine459.4RPS27A, SNCA, MAPT
134-hydroxynonenal45 2410.4MAPT, SNCA, HSP90AA1, RPS27A
14glycerol45 11 2411.4MAPT, HSP90AA1, RPS27A
15lactacystin459.4RPS27A, HSP90AA1, SNCA, MAPT
16atpgammas459.3NSF, HSP90AA1
17mg 13245 6010.3RPS27A, HSP90AA1, SNCA, MAPT
18n acetylcysteine459.3MAPT, SNCA, HSP90AA1, RPS27A
19tacrolimus45 50 1111.1SNCA, HSP90AA1, RPS27A
20butyrate459.0PML, RPS27A, HSP90AA1, HDAC4, MAPT
21arginine459.0SUMO1, MAPT, SNCA, HSP90AA1, RPS27A
22retinoic acid45 249.9PML, RPS27A, HSP90AA1, MAPT, SUMO1
23h2o2458.8PML, RPS27A, HSP90AA1, SNCA, MAPT, SUMO1
24zinc45 249.6PML, RPS27A, HDAC4, MAPT, ABT1, SUMO1
25lysine458.5PML, RPS27A, NSF, SNCA, HDAC4, SUMO1
26testosterone45 60 11 2411.3RPS27A, HSP90AA1, SNCA, ATXN3, ATXN1, MAPT
27cysteine457.9PML, RPS27A, HSP90AA1, NSF, SNCA, ATXN3
28glutamate457.7RPS27A, HSP90AA1, NSF, STXBP1, SNCA, HDAC4
29alanine457.6RPS27A, HSP90AA1, NSF, SNCA, HDAC4, MAPT
30glutamine456.6SUMO1, PML, RPS27A, HSP90AA1, NSF, SNCA

GO Terms for genes affiliated with Neuronal Intranuclear Inclusion Disease

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Sources:
16Gene Ontology
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Cellular components related to Neuronal Intranuclear Inclusion Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear inclusion bodyGO:0424059.6ATXN3, ATXN1
2nuclear matrixGO:0163639.0ATXN1, ATXN3, PML
3nucleoplasmGO:0056548.8SUMO1, ATXN1, ATXN3, RPS27A, PML
4cytosolGO:0058297.2MAPT, HDAC4, SNCA, STXBP1, NSF, HSP90AA1

Biological processes related to Neuronal Intranuclear Inclusion Disease according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1PML body organizationGO:03057810.1SUMO1, PML
2histone H3 deacetylationGO:07093210.0HDAC4, ATXN3
3response to interleukin-1GO:0705559.8HDAC4, SNCA
4glutamate secretionGO:0140479.7APBA1, STXBP1
5axon cargo transportGO:0080889.7APBA1, MAPT
6receptor internalizationGO:0316239.6DNM1, SNCA
7regulation of excitatory postsynaptic membrane potentialGO:0600799.5SNCA, ATXN1
8positive regulation of receptor recyclingGO:0019219.5SNCA, NSF
9negative regulation of transcription, DNA-dependentGO:0458929.0SUMO1, HDAC4, ATXN1, PML
10synaptic transmissionGO:0072688.7ATXN3, STXBP1, APBA1, NSF

Molecular functions related to Neuronal Intranuclear Inclusion Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1syntaxin bindingGO:0199059.4STXBP1, NSF
2ubiquitin protein ligase bindingGO:0316259.3PML, ATXN3, SUMO1
3protein kinase bindingGO:0199019.0HSP90AA1, STXBP1, HDAC4, MAPT
4protein complex bindingGO:0324038.8DNM1, APBA1, NSF
5identical protein bindingGO:0428028.4DNM1, ATXN1, ATXN3, SNCA, STXBP1, HSP90AA1
6protein bindingGO:0055155.3SNCA, APBA1, NSF, HSP90AA1, PML, ATXN3

Products for genes affiliated with Neuronal Intranuclear Inclusion Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neuronal Intranuclear Inclusion Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet
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