MCID: NRN008
MIFTS: 39

Neuronal Intranuclear Inclusion Disease malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Neuronal Intranuclear Inclusion Disease

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Sources:
30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Neuronal Intranuclear Inclusion Disease:

Name: Neuronal Intranuclear Inclusion Disease 51 47 53 49 67
Neuronal Intranuclear Hyaline Inclusion Disease 47
 
Niid 47

Characteristics:

Orphanet epidemiological data:

53

Classifications:



External Ids:

OMIM51 603472
Orphanet53 ORPHA2289
MESH via Orphanet39 C537395
UMLS via Orphanet68 C1863843
ICD10 via Orphanet30 G31.0

Summaries for Neuronal Intranuclear Inclusion Disease

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OMIM:51 Neuronal intranuclear inclusion disease (NIID) is characterized pathologically by eosinophilic intranuclear inclusions... (603472) more...

MalaCards based summary: Neuronal Intranuclear Inclusion Disease, also known as neuronal intranuclear hyaline inclusion disease, is related to neuronitis and suppurative thyroiditis, and has symptoms including neurological speech impairment, incoordination and skeletal muscle atrophy. An important gene associated with Neuronal Intranuclear Inclusion Disease is SUMO1 (Small Ubiquitin-Like Modifier 1), and among its related pathways are Sumoylation by RanBP2 regulates transcriptional repression and Signaling events mediated by HDAC Class II. Affiliated tissues include brain, skeletal muscle and skin, and related mouse phenotypes are behavior/neurological and nervous system.

NIH Rare Diseases:47 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

Related Diseases for Neuronal Intranuclear Inclusion Disease

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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

Human phenotypes related to Neuronal Intranuclear Inclusion Disease:

 63 53 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0002167
2 incoordination63 hallmark (90%) HP:0002311
3 skeletal muscle atrophy63 hallmark (90%) HP:0003202
4 emg abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0003457
5 abnormality of movement63 53 hallmark (90%) Very frequent (99-80%) HP:0100022
6 ophthalmoparesis63 typical (50%) HP:0000597
7 nystagmus63 53 typical (50%) Frequent (79-30%) HP:0000639
8 behavioral abnormality63 53 typical (50%) Frequent (79-30%) HP:0000708
9 seizures63 53 typical (50%) Frequent (79-30%) HP:0001250
10 hypertonia63 53 typical (50%) Frequent (79-30%) HP:0001276
11 hyperreflexia63 53 typical (50%) Frequent (79-30%) HP:0001347
12 eeg abnormality63 53 typical (50%) Frequent (79-30%) HP:0002353
13 developmental regression63 typical (50%) HP:0002376
14 scoliosis63 53 typical (50%) Frequent (79-30%) HP:0002650
15 spina bifida occulta63 53 typical (50%) Frequent (79-30%) HP:0003298
16 abnormal form of the vertebral bodies63 53 typical (50%) Frequent (79-30%) HP:0003312
17 abnormality of the pharynx63 53 occasional (7.5%) Occasional (29-5%) HP:0000600
18 optic atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0000648
19 ophthalmoplegia53 Frequent (79-30%)
20 dementia53 Frequent (79-30%)
21 ataxia53 Very frequent (99-80%)
22 dysarthria53 Very frequent (99-80%)

Drugs & Therapeutics for Neuronal Intranuclear Inclusion Disease

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Interventional clinical trials:

Search ClinicalTrials, 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:

35
Brain, Skeletal muscle, Skin

Animal Models for Neuronal Intranuclear Inclusion Disease or affiliated genes

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MGI Mouse Phenotypes related to Neuronal Intranuclear Inclusion Disease:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.8APBA1, ATXN1, ATXN3, DNM1, HDAC4, HSP90AA1
2MP:00036317.3APBA1, ATXN1, ATXN3, DNM1, HDAC4, MAPT
3MP:00107687.1APBA1, ATXN1, DNM1, HDAC4, HSP90AA1, MAPT

Publications for Neuronal Intranuclear Inclusion Disease

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Articles related to Neuronal Intranuclear Inclusion Disease:

(show all 32)
idTitleAuthorsYear
1
Pathological background of subcortical hyperintensities on diffusion-weighted images in a case of neuronal intranuclear inclusion disease. (27719745)
2016
2
Neuronal intranuclear inclusion disease with leukoencephalopathy and light motor-sensory and autonomic neuropathy diagnosed by skin biopsy. (27538646)
2016
3
Sporadic adult-onset neuronal intranuclear inclusion disease with the main presentation of repeated cerebellar ataxia: a case study. (27181748)
2016
4
Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. (27797808)
2016
5
Memory Loss and Frontal Cognitive Dysfunction in a Patient with Adult-onset Neuronal Intranuclear Inclusion Disease. (27523009)
2016
6
Optineurin immunoreactivity in neuronal and glial intranuclear inclusions in adult-onset neuronal intranuclear inclusion disease. (25232514)
2014
7
Neuronal intranuclear inclusion disease presenting with resting tremor. (24987362)
2014
8
Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy. (24039026)
2013
9
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease. (21411744)
2011
10
Neuronal intranuclear inclusion disease: no longer a pain in the butt. (21411743)
2011
11
Neuronal intranuclear inclusion disease: two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia. (20629123)
2010
12
Neuronal Intranuclear Inclusion Disease presenting as juvenile Parkinsonism. (20437931)
2010
13
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
14
Neuronal intranuclear inclusion disease presenting as chronic intestinal pseudo-obstruction in the neonatal period in the absence of neurologic symptoms. (16540803)
2006
15
SUMOylation substrates in neuronal intranuclear inclusion disease. (16409557)
2006
16
Neuronal intranuclear inclusion disease without polyglutamine inclusions in a child. (15977647)
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 in a horse. (15971054)
2005
19
SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease. (14637113)
2003
20
Influences of intranuclear inclusion on nuclear size - morphometric study on pontine neurons of neuronal intranuclear inclusion disease cases. (12536220)
2003
21
Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration. (12164731)
2002
22
Neuronal intranuclear inclusion disease and juvenile parkinsonism. (11009211)
2000
23
Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease. (10443897)
1999
24
Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions. (9804114)
1998
25
Polyglutamine-containing aggregates in neuronal intranuclear inclusion disease. (9525376)
1998
26
Neuronal intranuclear inclusion disease: neuropathologic study of a case. (9760997)
1998
27
Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case. (8787158)
1996
28
Cardiomyopathy and myocyte intranuclear inclusions in neuronal intranuclear inclusion disease: a case report. (1649120)
1991
29
Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy. (2405768)
1990
30
Neuronal intranuclear inclusion disease. Clinical ophthalmological features and ophthalmic pathology. (3028034)
1986
31
Neuronal intranuclear inclusion disease in two adult siblings. (2983603)
1985
32
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:

idSuper pathwaysScoreTop Affiliating Genes
19.9HDAC4, SUMO1
29.6HDAC4, HSP90AA1, SUMO1
39.5DNM1, SNCA, STXBP1
4
Show member pathways
9.1DNM1, NSF, STXBP1
58.4ATXN1, MAPT, NSF, SNCA, STXBP1

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 inclusion bodyGO:004240510.3ATXN1, ATXN3
2synaptic vesicleGO:00080219.8APBA1, DNM1, SNCA
3nuclear matrixGO:00163639.2ATXN1, ATXN3, PML
4protein complexGO:00432348.9APBA1, DNM1, HDAC4, HSP90AA1, STXBP1
5myelin sheathGO:00432098.9DNM1, HSP90AA1, NSF, RPS27A, STXBP1
6nucleoplasmGO:00056547.8ATXN1, ATXN3, HDAC4, HSP90AA1, PML, RPS27A
7plasma membraneGO:00058867.1APBA1, DNM1, HSP90AA1, MAPT, NSF, RPS27A
8cytosolGO:00058296.9APBA1, ATXN3, HDAC4, HSP90AA1, MAPT, NSF
9cytoplasmGO:00057376.2ATXN1, ATXN3, DNM1, HDAC4, HSP90AA1, MAPT
10nucleusGO:00056346.0ABT1, APBA1, ATXN1, ATXN3, HDAC4, HSP90AA1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1PML body organizationGO:003057810.5PML, SUMO1
2axo-dendritic transportGO:000808810.1APBA1, MAPT
3histone H3 deacetylationGO:007093210.1ATXN3, HDAC4
4global genome nucleotide-excision repairGO:007091110.0RPS27A, SUMO1
5positive regulation of receptor recyclingGO:000192110.0NSF, SNCA
6glutamate secretionGO:00140479.9APBA1, STXBP1
7positive regulation of lamellipodium assemblyGO:00105929.7HDAC4, HSP90AA1
8protein stabilizationGO:00508219.6HSP90AA1, STXBP1, SUMO1
9intrinsic apoptotic signaling pathway in response to oxidative stressGO:00086319.5MAPT, PML

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1tau protein bindingGO:004815610.6HSP90AA1, SNCA
2syntaxin-1 bindingGO:001707510.2NSF, STXBP1
3protein complex bindingGO:00324039.0APBA1, DNM1, MAPT, NSF
4protein kinase bindingGO:00199018.4DNM1, HDAC4, HSP90AA1, MAPT, NSF, STXBP1
5poly(A) RNA bindingGO:00448228.4ABT1, DNM1, HSP90AA1, RPS27A, STXBP1, SUMO1
6identical protein bindingGO:00428028.1ATXN1, ATXN3, DNM1, HSP90AA1, SNCA, STXBP1
7protein bindingGO:00055154.7ABT1, APBA1, ATXN1, ATXN3, DNM1, HDAC4

Sources for Neuronal Intranuclear Inclusion Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet