MCID: NRN008
MIFTS: 44

Neuronal Intranuclear Inclusion Disease malady

Rare diseases, Neuronal diseases categories

Aliases & Classifications for Neuronal Intranuclear Inclusion Disease

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Sources:
42NIH Rare Diseases, 44Novoseek, 48Orphanet, 61UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Neuronal Intranuclear Inclusion Disease:

Name: Neuronal Intranuclear Inclusion Disease 42 44 48 61
Neuronal Intranuclear Hyaline Inclusion Disease 42
 
Niid 42


Classifications:



Characteristics (Orphanet epidemiological data):

48

External Ids:

Orphanet48 2289
MESH via Orphanet34 C537395
ICD10 via Orphanet26 G31.0
UMLS via Orphanet62 C1863843

Summaries for Neuronal Intranuclear Inclusion Disease

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NIH Rare Diseases:42 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 based summary: Neuronal Intranuclear Inclusion Disease, also known as neuronal intranuclear hyaline inclusion disease, is related to neuronitis and machado-joseph disease, and has symptoms including neurological speech impairment, incoordination and amyotrophy. 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.

Related Diseases for Neuronal Intranuclear Inclusion Disease

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Diseases related to Neuronal Intranuclear Inclusion Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1neuronitis11.0
2machado-joseph disease10.5ATXN3
3rem sleep behavior disorder10.5SNCA
4autonomic neuropathy10.4
5neuropathy10.4
6neuroaxonal dystrophy10.3SNCA, RPS27A
7striatonigral degeneration10.3SNCA, RPS27A
8supranuclear palsy, progressive10.3MAPT
9frontotemporal lobar degeneration with ubiquitin-positive inclusions10.3MAPT, RPS27A
10dysphagia10.3ATXN3, ATXN1
11dentatorubro-pallidoluysian atrophy10.3ATXN3, ATXN1
12dystonia10.3
13intestinal pseudo-obstruction10.3
14cerebellar degeneration10.3
15drug induced dyskinesia10.3
16tremor10.3
17bloom syndrome10.3SUMO1, PML
18inclusion body myositis10.3RPS27A, MAPT
19huntington disease10.3ATXN3, ATXN1
20semantic dementia10.2RPS27A, MAPT
21hereditary ataxia10.2ATXN1, ATXN3
22spinocerebellar ataxia 110.2ATXN1, ATXN3
23spinocerebellar ataxia 1210.2ATXN1, ATXN3
24lateral sclerosis10.2SNCA, MAPT
25parkinson disease type 310.2SNCA, MAPT
26spinocerebellar degeneration10.2RPS27A, ATXN3, ATXN1
27niemann-pick disease, type c110.2MAPT, SNCA
28spinocerebellar ataxia 1710.2ABT1, ATXN1, ATXN3
29dementia, lewy body10.1MAPT, SNCA
30vascular dementia10.1SNCA, RPS27A, MAPT
31tauopathy10.1SNCA, RPS27A, MAPT
32creutzfeldt-jakob disease10.1SNCA, RPS27A, MAPT
33pick disease10.1SNCA, RPS27A, MAPT
34movement disease10.1MAPT, RPS27A, SNCA
35dementia, frontotemporal10.1SNCA, RPS27A, MAPT
36motor neuron disease10.1SNCA, RPS27A, MAPT
37friedreich ataxia10.1ATXN3, ATXN1
38myositis10.1MAPT, RPS27A, SNCA
39amyloidosis10.1SNCA, RPS27A, MAPT
40spinocerebellar ataxia10.1ATXN1, ATXN3
41dementia10.1MAPT, RPS27A, SNCA
42amyotrophic lateral sclerosis 110.0SNCA, RPS27A, MAPT
43parkinson disease, late-onset9.8MAPT, RPS27A, SNCA
44prion disease9.8ATXN3, APBA1, SNCA, RPS27A, MAPT
45viral infectious disease9.8PML, HSP90AA1, SUMO1, SNCA
46multiple system atrophy9.8ATXN1, ATXN3, SNCA, RPS27A, MAPT
47alzheimer disease9.7MAPT, RPS27A, SNCA, APBA1
48breast cancer9.5HSP90AA1, SNCA, RPS27A, MAPT, PML

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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Symptoms:

 48 (show all 18)
  • ataxia/incoordination/trouble of the equilibrium
  • 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
  • abnormal vertebral size/shape
  • eeg anomalies
  • 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

HPO human phenotypes related to Neuronal Intranuclear Inclusion Disease:

(show all 18)
id Description Frequency HPO Source Accession
1 neurological speech impairment hallmark (90%) HP:0002167
2 incoordination hallmark (90%) HP:0002311
3 amyotrophy hallmark (90%) HP:0003202
4 emg abnormality hallmark (90%) HP:0003457
5 abnormality of movement hallmark (90%) HP:0100022
6 ophthalmoparesis typical (50%) HP:0000597
7 nystagmus typical (50%) HP:0000639
8 behavioral abnormality typical (50%) HP:0000708
9 seizures typical (50%) HP:0001250
10 hypertonia typical (50%) HP:0001276
11 hyperreflexia typical (50%) HP:0001347
12 eeg abnormality typical (50%) HP:0002353
13 developmental regression typical (50%) HP:0002376
14 scoliosis typical (50%) HP:0002650
15 spina bifida occulta typical (50%) HP:0003298
16 abnormal form of the vertebral bodies typical (50%) HP:0003312
17 abnormality of the pharynx occasional (7.5%) HP:0000600
18 optic atrophy occasional (7.5%) HP:0000648

Drugs & Therapeutics for Neuronal Intranuclear Inclusion Disease

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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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MalaCards organs/tissues related to Neuronal Intranuclear Inclusion Disease:

31
Brain, Skin

Animal Models for Neuronal Intranuclear Inclusion Disease or affiliated genes

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MGI Mouse Phenotypes related to Neuronal Intranuclear Inclusion Disease:

35
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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Articles related to Neuronal Intranuclear Inclusion Disease:

(show all 27)
idTitleAuthorsYear
1
Optineurin immunoreactivity in neuronal and glial intranuclear inclusions in adult-onset neuronal intranuclear inclusion disease. (25232514)
2014
2
Neuronal intranuclear inclusion disease presenting with resting tremor. (24987362)
2014
3
Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy. (24039026)
2013
4
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease. (21411744)
2011
5
Neuronal intranuclear inclusion disease: no longer a pain in the butt. (21411743)
2011
6
Neuronal Intranuclear Inclusion Disease presenting as juvenile Parkinsonism. (20437931)
2010
7
Neuronal intranuclear inclusion disease: two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia. (20629123)
2010
8
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
9
Neuronal intranuclear inclusion disease presenting as chronic intestinal pseudo-obstruction in the neonatal period in the absence of neurologic symptoms. (16540803)
2006
10
SUMOylation substrates in neuronal intranuclear inclusion disease. (16409557)
2006
11
Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies. (15966005)
2005
12
Neuronal intranuclear inclusion disease without polyglutamine inclusions in a child. (15977647)
2005
13
Neuronal intranuclear inclusion disease in a horse. (15971054)
2005
14
SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease. (14637113)
2003
15
Influences of intranuclear inclusion on nuclear size - morphometric study on pontine neurons of neuronal intranuclear inclusion disease cases. (12536220)
2003
16
Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration. (12164731)
2002
17
Neuronal intranuclear inclusion disease and juvenile parkinsonism. (11009211)
2000
18
Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease. (10443897)
1999
19
Neuronal intranuclear inclusion disease: neuropathologic study of a case. (9760997)
1998
20
Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions. (9804114)
1998
21
Polyglutamine-containing aggregates in neuronal intranuclear inclusion disease. (9525376)
1998
22
Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case. (8787158)
1996
23
Cardiomyopathy and myocyte intranuclear inclusions in neuronal intranuclear inclusion disease: a case report. (1649120)
1991
24
Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy. (2405768)
1990
25
Neuronal intranuclear inclusion disease. Clinical ophthalmological features and ophthalmic pathology. (3028034)
1986
26
Neuronal intranuclear inclusion disease in two adult siblings. (2983603)
1985
27
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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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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Pathways related to Neuronal Intranuclear Inclusion Disease according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
DNA damage Role of SUMO in p53 regulation59
10.0SUMO1, PML
2
Show member pathways
miRNA Biogenesis36
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 pathway36
9.5SUMO1, HSP90AA1, PML
79.4SUMO1, HSP90AA1, HDAC4
8
Show member pathways
Synaptic Vesicle Pathway36
9.0NSF, STXBP1, DNM1
9
Show member pathways
Proteasome Degradation36
Immune response Antigen presentation by MHC class I59
8.9HSP90AA1, SNCA, RPS27A, MAPT
108.8NSF, DNM1, MAPT
118.1MAPT, SNCA, STXBP1, NSF, ATXN1

Compounds for genes affiliated with Neuronal Intranuclear Inclusion Disease

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Compounds related to Neuronal Intranuclear Inclusion Disease according to GeneCards Suite gene sharing:

(show all 35)
idCompoundScoreTop Affiliating Genes
1pic 14410.1SUMO1, RPS27A, PML
2thioflavin449.9MAPT, SNCA
3fluorochrome449.9RPS27A, MAPT
4tmao449.9SNCA, MAPT
5radicicol44 60 1111.8HSP90AA1, RPS27A
6thioflavine s449.8SNCA, MAPT, RPS27A
7geldanamycin44 50 60 1112.7SNCA, RPS27A, HSP90AA1
8arsenite44 2410.7PML, HSP90AA1, RPS27A
9formate449.7SNCA, RPS27A, MAPT
1017-(allylamino)-17-demethoxygeldanamycin449.7RPS27A, HSP90AA1
11silver449.7MAPT, SNCA, RPS27A
12sodium dodecylsulfate449.6SNCA, MAPT, RPS27A
13retinoid449.6HDAC4, RPS27A, PML
14camptothecin44 60 1111.6PML, HSP90AA1, SUMO1, RPS27A
15tacrolimus44 50 1111.5HSP90AA1, SNCA, RPS27A
16valine449.5MAPT, RPS27A, SNCA
17atpgammas44 2810.4NSF, HSP90AA1
18glycerol44 24 1111.4MAPT, RPS27A, HSP90AA1
194-hydroxynonenal44 2410.3MAPT, RPS27A, HSP90AA1, SNCA
20lactacystin449.3HSP90AA1, SNCA, RPS27A, MAPT
21mg 13244 6010.3RPS27A, SNCA, HSP90AA1, MAPT
22n acetylcysteine449.2MAPT, RPS27A, HSP90AA1, SNCA
23retinoic acid44 2410.0RPS27A, SUMO1, HSP90AA1, MAPT, PML
24arginine449.0HSP90AA1, SUMO1, SNCA, RPS27A, MAPT
25butyrate448.9HDAC4, PML, RPS27A, MAPT, HSP90AA1
26nmda44 289.9MAPT, NSF, RPS27A
27h2o2448.8SUMO1, PML, HSP90AA1, SNCA, RPS27A, MAPT
28threonine448.5HSP90AA1, HDAC4, RPS27A, MAPT
29lysine448.5HDAC4, NSF, SNCA, RPS27A, PML, SUMO1
30zinc44 249.5PML, HDAC4, SUMO1, RPS27A, ABT1, MAPT
31testosterone44 60 24 1111.4SNCA, MAPT, RPS27A, SUMO1, HSP90AA1, ATXN3
32cysteine447.9NSF, MAPT, HSP90AA1, RPS27A, SNCA, ATXN3
33glutamate447.5HDAC4, HSP90AA1, SUMO1, STXBP1, SNCA, NSF
34alanine447.4HDAC4, ABT1, HSP90AA1, NSF, SNCA, RPS27A
35glutamine446.7NSF, HSP90AA1, RPS27A, MAPT, PML, ATXN3

GO Terms for genes affiliated with Neuronal Intranuclear Inclusion Disease

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Cellular components related to Neuronal Intranuclear Inclusion Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear matrixGO:00163639.6PML, ATXN3, ATXN1
2nucleoplasmGO:00056549.0ATXN1, ATXN3, PML, SUMO1, RPS27A
3plasma membraneGO:00058867.2APBA1, NSF, STXBP1, SNCA, RPS27A, MAPT
4cytosolGO:00058297.2MAPT, HDAC4, PML, HSP90AA1, NSF, STXBP1
5cytoplasmGO:00057377.0HDAC4, ATXN1, ATXN3, PML, HSP90AA1, SUMO1
6nucleusGO:00056346.9HDAC4, ABT1, ATXN1, PML, HSP90AA1, APBA1

Biological processes related to Neuronal Intranuclear Inclusion Disease according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1PML body organizationGO:003057810.2SUMO1, PML
2receptor internalizationGO:00316239.9SNCA, DNM1
3regulation of excitatory postsynaptic membrane potentialGO:00600799.9SNCA, ATXN1
4glutamate secretionGO:00140479.8APBA1, STXBP1
5adult locomotory behaviorGO:00083449.8SNCA, ATXN1
6response to interleukin-1GO:00705559.7SNCA, HDAC4
7axon cargo transportGO:00080889.7MAPT, APBA1
8cytokine-mediated signaling pathwayGO:00192219.6PML, SUMO1, RPS27A
9positive regulation of receptor recyclingGO:00019219.5SNCA, NSF
10negative regulation of transcription, DNA-templatedGO:00458929.3SUMO1, PML, ATXN1, HDAC4
11nervous system developmentGO:00073999.0APBA1, ATXN3, HDAC4
12synaptic transmissionGO:00072688.7ATXN3, APBA1, NSF, STXBP1

Molecular functions related to Neuronal Intranuclear Inclusion Disease according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1ubiquitin protein ligase bindingGO:00316259.7ATXN3, PML, SUMO1
2protein kinase bindingGO:00199019.2MAPT, STXBP1, HDAC4
3syntaxin bindingGO:00199059.0STXBP1, NSF
4protein complex bindingGO:00324038.7DNM1, NSF, APBA1
5identical protein bindingGO:00428028.5ATXN1, ATXN3, HSP90AA1, STXBP1, DNM1, SNCA
6poly(A) RNA bindingGO:00448228.3ABT1, HSP90AA1, SUMO1, STXBP1, DNM1, RPS27A
7protein bindingGO:00055155.4MAPT, HDAC4, ABT1, ATXN1, ATXN3, PML

Sources for Neuronal Intranuclear Inclusion Disease

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet