MCID: NRN008
MIFTS: 38

Neuronal Intranuclear Inclusion Disease malady

Rare diseases, Neuronal diseases categories

Aliases & Classifications for Neuronal Intranuclear Inclusion Disease

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Sources:
45NIH Rare Diseases, 47Novoseek, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Neuronal Intranuclear Inclusion Disease:

Name: Neuronal Intranuclear Inclusion Disease 45 47 51 65
Neuronal Intranuclear Hyaline Inclusion Disease 45
 
Niid 45


Classifications:



Characteristics (Orphanet epidemiological data):

51

External Ids:

Orphanet51 2289
ICD10 via Orphanet28 G31.0
MESH via Orphanet37 C537395
UMLS via Orphanet66 C1863843

Summaries for Neuronal Intranuclear Inclusion Disease

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NIH Rare Diseases:45 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 autonomic neuropathy, 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 Proteolysis Putative SUMO-1 pathway. Affiliated tissues include brain, skeletal muscle and skin, and related mouse phenotypes are nervous system 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 35)
idRelated DiseaseScoreTop Affiliating Genes
1neuronitis11.0
2autonomic neuropathy10.4
3neuropathy10.4
4dystonia10.3
5intestinal pseudo-obstruction10.3
6cerebellar degeneration10.3
7drug induced dyskinesia10.3
8cardiomyopathy10.3
9tremor10.3
10parkinson disease type 910.2MAPT, SNCA
11compartment syndrome10.2MAPT, PML
12carotid stenosis10.2MAPT, SNCA
13bradyopsia10.1MAPT, RPS27A
14erythematosquamous dermatosis10.1RPS27A, SNCA
15semmekrot haraldsson weemaes syndrome10.1MAPT, RPS27A
16corticosteroid-sensitive aseptic abscesses10.1MAPT, RPS27A
17mast syndrome10.1MAPT, RPS27A, SNCA
18supranuclear palsy, progressive atypical10.0MAPT, RPS27A, SNCA
19dementia, lewy body10.0MAPT, RPS27A, SNCA
20pick disease10.0MAPT, RPS27A, SNCA
21cardiomyopathy, dilated, 1u10.0MAPT, RPS27A, SNCA
22hereditary hemorrhagic telangiectasia10.0ATXN1, ATXN3
23spinocerebellar ataxia 1210.0ATXN1, ATXN3
24syphilis10.0MAPT, RPS27A, SNCA
25teeth hard tissue disease10.0MAPT, RPS27A, SNCA
26atrioventricular septal defect 510.0MAPT, SNCA
27spinocerebellar ataxia 110.0ATXN1, ATXN3
28spinocerebellar ataxia 1710.0ABT1, ATXN1, ATXN3
29hypospadias 1, x-linked10.0ATXN1, ATXN3, HSP90AA1
30huntington disease9.9ATXN1, ATXN3, MAPT, SNCA
31coccidioidomycosis9.9ATXN1, MAPT, RPS27A, SNCA
32multiple system atrophy9.9ATXN1, MAPT, RPS27A, SNCA
33parkinson disease, late-onset9.9ATXN3, MAPT, RPS27A, SNCA
34mental retardation, autosomal recessive 329.9ATXN1, ATXN3, RPS27A, SNCA
35neuropathy ataxia retinitis pigmentosa syndrome8.2ABT1, APBA1, ATXN1, ATXN3, DNM1, HDAC4

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:

 51 (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 skeletal muscle atrophy 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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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:

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.7APBA1, ATXN1, ATXN3, DNM1, HDAC4, MAPT
2MP:00053867.4APBA1, 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 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:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9HDAC4, SUMO1
2
Show member pathways
9.5PML, RPS27A, SUMO1
3
Show member pathways
9.4HDAC4, PML, RPS27A
49.4HDAC4, HSP90AA1, SUMO1
5
Show member pathways
9.0DNM1, NSF, STXBP1
68.4ATXN1, 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:004240510.4ATXN1, ATXN3
2nuclear matrixGO:00163639.9ATXN1, ATXN3, PML
3myelin sheathGO:00432098.4DNM1, HSP90AA1, NSF, RPS27A, STXBP1
4nucleoplasmGO:00056547.8ATXN1, ATXN3, HDAC4, HSP90AA1, PML, RPS27A
5plasma membraneGO:00058866.6APBA1, DNM1, HSP90AA1, MAPT, NSF, RPS27A
6cytosolGO:00058296.3APBA1, ATXN3, HDAC4, HSP90AA1, MAPT, NSF
7cytoplasmGO:00057376.2ATXN1, ATXN3, HDAC4, HSP90AA1, MAPT, NSF
8nucleusGO:00056345.9ABT1, APBA1, ATXN1, ATXN3, HDAC4, HSP90AA1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1PML body organizationGO:003057810.6PML, SUMO1
2excitatory postsynaptic potentialGO:006007910.3ATXN1, SNCA
3intrinsic apoptotic signaling pathway in response to oxidative stressGO:000863110.3MAPT, PML
4axon cargo transportGO:000808810.2APBA1, MAPT
5response to interleukin-1GO:007055510.2HDAC4, SNCA
6glutamate secretionGO:001404710.1APBA1, STXBP1
7positive regulation of receptor recyclingGO:000192110.0NSF, SNCA
8protein stabilizationGO:00508219.9PML, STXBP1, SUMO1
9adult locomotory behaviorGO:00083449.8ATXN1, DNM1, SNCA
10nucleotide-excision repairGO:00062899.5ATXN3, RPS27A, SUMO1
11cellular protein metabolic processGO:00442678.4NSF, PML, RPS27A, SNCA, SUMO1
12synaptic transmissionGO:00072688.2APBA1, ATXN3, NSF, SNCA, STXBP1

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

idNameGO IDScoreTop Affiliating Genes
1syntaxin-1 bindingGO:001707510.0NSF, STXBP1
2protein kinase bindingGO:00199019.0DNM1, HDAC4, MAPT, NSF, STXBP1
3identical protein bindingGO:00428028.5ATXN1, ATXN3, DNM1, HSP90AA1, SNCA, STXBP1
4poly(A) RNA bindingGO:00448227.7ABT1, DNM1, HSP90AA1, RPS27A, STXBP1, SUMO1
5protein bindingGO:00055154.7ABT1, APBA1, ATXN1, ATXN3, DNM1, HDAC4

Sources for Neuronal Intranuclear Inclusion Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet