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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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 ataxia/incoordination/trouble of the equilibrium, movement disorder and speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia. 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:46 603472

Aliases & Classifications for Neuronal Intranuclear Inclusion Disease

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Sources:
42NIH Rare Diseases, 44Novoseek, 48Orphanet, 46OMIM, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Neuronal Intranuclear Inclusion Disease, Aliases & Descriptions:

Name: Neuronal Intranuclear Inclusion Disease 42 44 48 46 62
Neuronal Intranuclear Hyaline Inclusion Disease 42
 
Niid 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

48

External Ids:

OMIM46 603472
MESH via Orphanet35 C537395
ICD10 via Orphanet26 G31.0
UMLS via Orphanet63 C1863843

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/GeneDecks gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1neuronitis11.0
2machado-joseph disease10.5ATXN3
3rem sleep behavior disorder10.5SNCA
4autonomic neuropathy10.4
5neuropathy10.4
6neuroaxonal dystrophy10.4SNCA, RPS27A
7striatonigral degeneration10.4SNCA, RPS27A
8progressive supranuclear palsy10.3MAPT
9primary progressive aphasia10.3MAPT, RPS27A
10bloom syndrome10.3SUMO1, PML
11dysphagia10.3ATXN3, ATXN1
12dentatorubral-pallidoluysian atrophy10.3ATXN3, ATXN1
13inclusion body myositis10.3MAPT, RPS27A
14huntington's disease10.3ATXN3, ATXN1
15semantic dementia10.3RPS27A, MAPT
16dystonia10.3
17intestinal pseudo-obstruction10.3
18cerebellar degeneration10.3
19drug induced dyskinesia10.3
20tremor10.3
21olivopontocerebellar atrophy10.3ATXN1, ATXN3
22hereditary ataxia10.2ATXN1, ATXN3
23spinocerebellar ataxia type 1210.2ATXN1, ATXN3
24lateral sclerosis10.2MAPT, SNCA
25parkinson disease type 310.2SNCA, MAPT
26niemann-pick disease type c110.2MAPT, SNCA
27spinocerebellar degeneration10.2ATXN1, ATXN3, RPS27A
28spinocerebellar ataxia type 1710.2ATXN1, ATXN3, ABT1
29friedreich ataxia10.2ATXN3, ATXN1
30lewy body dementia10.2MAPT, SNCA
31amyloid tumor10.2RPS27A, MAPT
32spinocerebellar ataxia10.2ATXN3, ATXN1
33vascular dementia10.2RPS27A, MAPT, SNCA
34tauopathy10.2SNCA, RPS27A, MAPT
35creutzfeldt-jakob disease10.1SNCA, RPS27A, MAPT
36pick's disease10.1RPS27A, SNCA, MAPT
37movement disease10.1RPS27A, MAPT, SNCA
38frontotemporal dementia10.1MAPT, SNCA, RPS27A
39motor neuron disease10.1RPS27A, MAPT, SNCA
40myositis10.1RPS27A, SNCA, MAPT
41amyloidosis10.1RPS27A, MAPT, SNCA
42dementia10.1MAPT, RPS27A, SNCA
43amyotrophic lateral sclerosis type 1410.1RPS27A, MAPT, SNCA
44memory impairment10.0MAPT, SNCA
45parkinson's disease9.8MAPT, RPS27A, SNCA
46viral infectious disease9.8SNCA, SUMO1, HSP90AA1, PML
47prion disease9.8ATXN3, MAPT, RPS27A, APBA1, SNCA
48multiple system atrophy9.8ATXN3, MAPT, SNCA, RPS27A, ATXN1
49alzheimer's disease9.8SNCA, MAPT, RPS27A, APBA1
50breast cancer9.5PML, 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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Clinical features from OMIM:

603472

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:

32
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:

36
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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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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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
10.0PML, SUMO1
2
Show member pathways
miRNA Biogenesis37
9.8HDAC4, SUMO1
39.8HSP90AA1, SUMO1
4
Show member pathways
9.7SUMO1, PML, RPS27A
59.5SNCA, DNM1, STXBP1
6
Show member pathways
Alternative NF-kappaB pathway37
9.5PML, SUMO1, HSP90AA1
79.4HDAC4, HSP90AA1, SUMO1
8
Show member pathways
Cytoskeleton remodeling Neurofilaments60
9.1APBA1, STXBP1, MAPT
9
Show member pathways
Synaptic Vesicle Pathway37
9.0NSF, STXBP1, DNM1
10
Show member pathways
Proteasome Degradation37
Immune response Antigen presentation by MHC class I60
8.9MAPT, RPS27A, SNCA, HSP90AA1
118.8NSF, MAPT, DNM1
128.1MAPT, 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/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1pic 14410.1SUMO1, RPS27A, PML
2thioflavin449.9MAPT, SNCA
3fluorochrome449.9RPS27A, MAPT
4tmao449.9SNCA, MAPT
5radicicol44 61 1111.8HSP90AA1, RPS27A
6thioflavine s449.8SNCA, MAPT, RPS27A
7geldanamycin44 50 61 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 61 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 6110.3RPS27A, 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 61 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/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:03057810.2PML, SUMO1
2regulation of excitatory postsynaptic membrane potentialGO:0600799.9ATXN1, SNCA
3receptor internalizationGO:0316239.8DNM1, SNCA
4response to interleukin-1GO:0705559.8SNCA, HDAC4
5glutamate secretionGO:0140479.8APBA1, STXBP1
6adult locomotory behaviorGO:0083449.8ATXN1, SNCA
7axon cargo transportGO:0080889.7APBA1, MAPT
8cytokine-mediated signaling pathwayGO:0192219.6PML, SUMO1, RPS27A
9positive regulation of receptor recyclingGO:0019219.5SNCA, NSF
10negative regulation of transcription, DNA-templatedGO:0458929.3ATXN1, HDAC4, SUMO1, PML
11nervous system developmentGO:0073999.0HDAC4, ATXN3, APBA1
12synaptic transmissionGO:0072688.7APBA1, STXBP1, NSF, ATXN3

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

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

Products for genes affiliated with Neuronal Intranuclear Inclusion Disease

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  • Antibodies
  • Proteins
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Sources for Neuronal Intranuclear Inclusion Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet