NIID
MCID: NRN008
MIFTS: 52

Neuronal Intranuclear Inclusion Disease (NIID) malady

Rare diseases, Neuronal diseases categories
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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 neuronitis and autonomic neuropathy, and has symptoms including hypertonia/spasticity/rigidity/stiffness, hypereflexia and seizures/epilepsy/absences/spasms/status epilepticus. An important gene associated with Neuronal Intranuclear Inclusion Disease is RPS27A (ribosomal protein S27a), and among its related pathways are Proteolysis Putative SUMO 1 pathway and Sumoylation by RanBP2 regulates transcriptional repression. The compounds pic 1 and thioflavin have been mentioned in the context of this disorder. Affiliated tissues include brain and 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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43NIH Rare Diseases, 45Novoseek, 49Orphanet, 47OMIM, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49

Aliases & Descriptions:

neuronal intranuclear inclusion disease 43 45 49 47 62
neuronal intranuclear hyaline inclusion disease 43
niid 43


External Ids:

OMIM47 603472
MESH via Orphanet36 C537395
ICD10 via Orphanet26 G31.0
UMLS via Orphanet63 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 49)
idRelated DiseaseScoreTop Affiliating Genes
1neuronitis11.0
2autonomic neuropathy10.4
3neuropathy10.4
4dystonia10.3
5intestinal pseudo-obstruction10.3
6cerebellar degeneration10.3
7drug induced dyskinesia10.3
8spinocerebellar ataxia type 310.1ATXN3
9rem sleep behavior disorder10.1SNCA
10neuroaxonal dystrophy10.1SNCA, RPS27A
11striatonigral degeneration10.1SNCA, RPS27A
12progressive supranuclear palsy10.1MAPT
13primary progressive aphasia10.1MAPT, RPS27A
14bloom syndrome10.1SUMO1, PML
15dysphagia10.1ATXN3, ATXN1
16dentatorubral-pallidoluysian atrophy10.1ATXN3, ATXN1
17inclusion body myositis10.1MAPT, RPS27A
18huntington's disease10.1ATXN3, ATXN1
19semantic dementia10.1RPS27A, MAPT
20olivopontocerebellar atrophy10.1ATXN1, ATXN3
21hereditary ataxia10.1ATXN1, ATXN3
22spinocerebellar ataxia type 1210.1ATXN1, ATXN3
23lateral sclerosis10.1MAPT, SNCA
24parkinson disease type 310.1SNCA, MAPT
25niemann-pick disease10.0MAPT, SNCA
26spinocerebellar degeneration10.0ATXN1, ATXN3, RPS27A
27spinocerebellar ataxia type 1710.0ATXN1, ATXN3, ABT1
28friedreich ataxia10.0ATXN3, ATXN1
29lewy body dementia10.0MAPT, SNCA
30amyloid tumor10.0RPS27A, MAPT
31spinocerebellar ataxia10.0ATXN3, ATXN1
32vascular dementia10.0RPS27A, MAPT, SNCA
33tauopathy10.0SNCA, RPS27A, MAPT
34creutzfeldt-jakob disease10.0SNCA, RPS27A, MAPT
35pick's disease10.0RPS27A, SNCA, MAPT
36movement disease10.0RPS27A, MAPT, SNCA
37frontotemporal dementia10.0MAPT, SNCA, RPS27A
38motor neuron disease10.0RPS27A, MAPT, SNCA
39myositis10.0RPS27A, SNCA, MAPT
40amyloidosis10.0RPS27A, MAPT, SNCA
41dementia10.0MAPT, RPS27A, SNCA
42amyotrophic lateral sclerosis10.0RPS27A, MAPT, SNCA
43memory impairment10.0MAPT, SNCA
44parkinson's disease10.0MAPT, RPS27A, SNCA
45viral infectious disease10.0SNCA, SUMO1, HSP90AA1, PML
46prion disease10.0ATXN3, MAPT, RPS27A, APBA1, SNCA
47multiple system atrophy10.0ATXN3, MAPT, SNCA, RPS27A, ATXN1
48alzheimer's disease9.9SNCA, MAPT, RPS27A, APBA1
49breast cancer9.9PML, MAPT, RPS27A, HSP90AA1, SNCA

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



Diseases related to neuronal intranuclear inclusion disease

Symptoms for Neuronal Intranuclear Inclusion Disease

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Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

603472

Symptoms:

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

Drugs & Therapeutics for Neuronal Intranuclear Inclusion Disease

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Neuronal Intranuclear Inclusion Disease

Search NIH Clinical Center 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
Brain, Skin

Animal Models for Neuronal Intranuclear Inclusion Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Neuronal Intranuclear Inclusion Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.5MAPT, SNCA, APBA1, PML, ATXN3
2MP:00053867.3HDAC4, ATXN1, ATXN3, APBA1, STXBP1, DNM1
3MP:00036317.1HDAC4, ATXN1, ATXN3, APBA1, STXBP1, DNM1
4MP:00107686.7MAPT, HDAC4, ATXN1, PML, HSP90AA1, APBA1

Publications for Neuronal Intranuclear Inclusion Disease

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52PubMed
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Articles related to Neuronal Intranuclear Inclusion Disease:

(show all 25)
idTitleAuthorsYear
1
Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy. (24039026)
2013
2
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease. (21411744)
2011
3
Neuronal intranuclear inclusion disease: no longer a pain in the butt. (21411743)
2011
4
Neuronal Intranuclear Inclusion Disease presenting as juvenile Parkinsonism. (20437931)
2010
5
Neuronal intranuclear inclusion disease: two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia. (20629123)
2010
6
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
7
Neuronal intranuclear inclusion disease presenting as chronic intestinal pseudo-obstruction in the neonatal period in the absence of neurologic symptoms. (16540803)
2006
8
SUMOylation substrates in neuronal intranuclear inclusion disease. (16409557)
2006
9
Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies. (15966005)
2005
10
Neuronal intranuclear inclusion disease without polyglutamine inclusions in a child. (15977647)
2005
11
Neuronal intranuclear inclusion disease in a horse. (15971054)
2005
12
SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease. (14637113)
2003
13
Influences of intranuclear inclusion on nuclear size - morphometric study on pontine neurons of neuronal intranuclear inclusion disease cases. (12536220)
2003
14
Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration. (12164731)
2002
15
Neuronal intranuclear inclusion disease and juvenile parkinsonism. (11009211)
2000
16
Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease. (10443897)
1999
17
Neuronal intranuclear inclusion disease: neuropathologic study of a case. (9760997)
1998
18
Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions. (9804114)
1998
19
Polyglutamine-containing aggregates in neuronal intranuclear inclusion disease. (9525376)
1998
20
Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case. (8787158)
1996
21
Cardiomyopathy and myocyte intranuclear inclusions in neuronal intranuclear inclusion disease: a case report. (1649120)
1991
22
Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy. (2405768)
1990
23
Neuronal intranuclear inclusion disease. Clinical ophthalmological features and ophthalmic pathology. (3028034)
1986
24
Neuronal intranuclear inclusion disease in two adult siblings. (2983603)
1985
25
Neuronal intranuclear inclusion disease in identical twins. (6331275)
1984

Variations for Neuronal Intranuclear Inclusion Disease

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Expression for genes affiliated with Neuronal Intranuclear Inclusion Disease

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2BioGPS, 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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50PathCards, 60Thomson Reuters, 38NCBI BioSystems Database, 55Reactome, 12EMD Millipore, 30KEGG, 53QIAGEN, 5Cell Signaling Technology
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Pathways related to Neuronal Intranuclear Inclusion Disease according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
DNA damage Role of SUMO in p53 regulation60
10.0SUMO1, PML
2
Show member pathways
miRNA Biogenesis38
9.8SUMO1, HDAC4
39.8SUMO1, HSP90AA1
4
Show member pathways
9.7RPS27A, SUMO1, PML
59.5SNCA, DNM1, STXBP1
6
Show member pathways
Alternative NF-kappaB pathway38
9.5SUMO1, HSP90AA1, PML
79.4SUMO1, HSP90AA1, HDAC4
8
Show member pathways
Cytoskeleton remodeling Neurofilaments60
9.1MAPT, STXBP1, APBA1
9
Show member pathways
Synaptic Vesicle Pathway38
9.0NSF, STXBP1, DNM1
10
Show member pathways
Proteasome Degradation38
Immune response Antigen presentation by MHC class I60
8.9HSP90AA1, SNCA, RPS27A, MAPT
118.8NSF, DNM1, MAPT
128.1MAPT, SNCA, STXBP1, NSF, ATXN1

Compounds for genes affiliated with Neuronal Intranuclear Inclusion Disease

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45Novoseek, 61Tocris Bioscience, 11DrugBank, 51PharmGKB, 24HMDB, 29IUPHAR
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Compounds related to Neuronal Intranuclear Inclusion Disease according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1pic 14510.1PML, SUMO1, RPS27A
2thioflavin459.9MAPT, SNCA
3fluorochrome459.9RPS27A, MAPT
4tmao459.9MAPT, SNCA
5radicicol45 61 1111.8RPS27A, HSP90AA1
6thioflavine s459.8SNCA, RPS27A, MAPT
7geldanamycin45 51 61 1112.7RPS27A, SNCA, HSP90AA1
8arsenite45 2410.7RPS27A, HSP90AA1, PML
9formate459.7MAPT, RPS27A, SNCA
1017-(allylamino)-17-demethoxygeldanamycin459.7HSP90AA1, RPS27A
11silver459.7MAPT, RPS27A, SNCA
12sodium dodecylsulfate459.6SNCA, RPS27A, MAPT
13retinoid459.6HDAC4, PML, RPS27A
14camptothecin45 61 1111.6RPS27A, SUMO1, HSP90AA1, PML
15tacrolimus45 51 1111.5RPS27A, SNCA, HSP90AA1
16valine459.5MAPT, RPS27A, SNCA
17atpgammas45 2910.4NSF, HSP90AA1
18glycerol45 24 1111.4HSP90AA1, RPS27A, MAPT
194-hydroxynonenal45 2410.3HSP90AA1, SNCA, RPS27A, MAPT
20lactacystin459.3MAPT, RPS27A, SNCA, HSP90AA1
21mg 13245 6110.3HSP90AA1, SNCA, RPS27A, MAPT
22n acetylcysteine459.2HSP90AA1, SNCA, RPS27A, MAPT
23retinoic acid45 2410.0MAPT, RPS27A, SUMO1, HSP90AA1, PML
24arginine459.0HSP90AA1, SUMO1, SNCA, RPS27A, MAPT
25butyrate458.9HDAC4, PML, HSP90AA1, RPS27A, MAPT
26nmda45 299.9MAPT, RPS27A, NSF
27h2o2458.8PML, HSP90AA1, SUMO1, SNCA, RPS27A, MAPT
28threonine458.5MAPT, RPS27A, HSP90AA1, HDAC4
29lysine458.5HDAC4, PML, SUMO1, NSF, SNCA, RPS27A
30zinc45 249.5HDAC4, ABT1, PML, SUMO1, RPS27A, MAPT
31testosterone45 61 24 1111.4ATXN1, ATXN3, HSP90AA1, SUMO1, SNCA, RPS27A
32cysteine457.9ATXN3, PML, HSP90AA1, NSF, SNCA, RPS27A
33glutamate457.5HDAC4, HSP90AA1, SUMO1, NSF, STXBP1, SNCA
34alanine457.4HDAC4, ABT1, HSP90AA1, NSF, SNCA, RPS27A
35glutamine456.7MAPT, ABT1, ATXN1, ATXN3, PML, HSP90AA1

GO Terms for genes affiliated with Neuronal Intranuclear Inclusion Disease

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

idNameGO IDScoreTop Affiliating Genes
1nuclear matrixGO:0163639.6ATXN1, PML, ATXN3
2nucleoplasmGO:0056549.0ATXN1, ATXN3, PML, SUMO1, RPS27A
3plasma membraneGO:0058867.2HSP90AA1, APBA1, NSF, STXBP1, SNCA, RPS27A
4cytosolGO:0058297.2MAPT, RPS27A, SNCA, STXBP1, NSF, HSP90AA1
5cytoplasmGO:0057377.0HSP90AA1, PML, SUMO1, NSF, STXBP1, SNCA
6nucleusGO:0056346.9SUMO1, APBA1, SNCA, HSP90AA1, PML, ATXN1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1PML body organizationGO:03057810.2SUMO1, PML
2receptor internalizationGO:0316239.9SNCA, DNM1
3regulation of excitatory postsynaptic membrane potentialGO:0600799.9SNCA, ATXN1
4glutamate secretionGO:0140479.8APBA1, STXBP1
5adult locomotory behaviorGO:0083449.8SNCA, ATXN1
6response to interleukin-1GO:0705559.7SNCA, HDAC4
7axon cargo transportGO:0080889.7MAPT, APBA1
8cytokine-mediated signaling pathwayGO:0192219.6PML, SUMO1, RPS27A
9positive regulation of receptor recyclingGO:0019219.5SNCA, NSF
10negative regulation of transcription, DNA-templatedGO:0458929.3SUMO1, PML, ATXN1, HDAC4
11nervous system developmentGO:0073999.0APBA1, ATXN3, HDAC4
12synaptic transmissionGO:0072688.7ATXN3, APBA1, NSF, STXBP1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1ubiquitin protein ligase bindingGO:0316259.7ATXN3, PML, SUMO1
2protein kinase bindingGO:0199019.2MAPT, STXBP1, HDAC4
3syntaxin bindingGO:0199059.0STXBP1, NSF
4protein complex bindingGO:0324038.7DNM1, NSF, APBA1
5identical protein bindingGO:0428028.5ATXN1, ATXN3, HSP90AA1, STXBP1, DNM1, SNCA
6poly(A) RNA bindingGO:0448228.3ABT1, HSP90AA1, SUMO1, STXBP1, DNM1, RPS27A
7protein bindingGO:0055155.4MAPT, HDAC4, ABT1, ATXN1, ATXN3, PML

Products for genes affiliated with Neuronal Intranuclear Inclusion Disease

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Sources for Neuronal Intranuclear Inclusion Disease

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet