MCID: NRN008
MIFTS: 41

Neuronal Intranuclear Inclusion Disease malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Neuronal Intranuclear Inclusion Disease

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Sources:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Neuronal Intranuclear Inclusion Disease:

Name: Neuronal Intranuclear Inclusion Disease 50 46 52 48 66
Neuronal Intranuclear Hyaline Inclusion Disease 46
 
Niid 46

Characteristics:

Orphanet epidemiological data:

52

Classifications:



External Ids:

OMIM50 603472
Orphanet52 ORPHA2289
ICD10 via Orphanet29 G31.0
MESH via Orphanet38 C537395
UMLS via Orphanet67 C1863843

Summaries for Neuronal Intranuclear Inclusion Disease

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OMIM:50 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 AHR Pathway (Qiagen) and Sumoylation by RanBP2 regulates transcriptional repression. Affiliated tissues include brain, skeletal muscle and skin, and related mouse phenotypes are nervous system and behavior/neurological.

NIH Rare Diseases:46 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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Diseases related to Neuronal Intranuclear Inclusion Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1neuronitis10.7
2suppurative thyroiditis10.3MAPT, SNCA
3erythematosquamous dermatosis10.2RPS27A, SNCA
4hereditary spastic paraplegia10.2ATXN1, ATXN3
5phka2-related phosphorylase kinase deficiency10.1MAPT, SNCA
6gingival disease10.1MAPT, RPS27A
7anti-p200 pemphigoid10.0MAPT, RPS27A, SNCA
8mast syndrome10.0MAPT, RPS27A, SNCA
9meier-gorlin syndrome 510.0MAPT, RPS27A, SNCA
10andersen syndrome10.0MAPT, RPS27A
11methylmalonic acidemia with homocystinuria, type cblj10.0MAPT, RPS27A
12adrenal gland pheochromocytoma10.0MAPT, RPS27A, SNCA
13angiomyolipoma10.0ATXN3, MAPT, SNCA
14cardiomyopathy, dilated, 1u10.0MAPT, RPS27A, SNCA
15pick disease10.0MAPT, RPS27A, SNCA
16chronic intestinal vascular insufficiency10.0ATXN3, MAPT, SNCA
17osteopathia striata with cranial sclerosis10.0ATXN1, ATXN3, HSP90AA1
18cerebellar ataxia10.0
19autonomic neuropathy10.0
20intestinal pseudo-obstruction10.0
21dystonia10.0
22neuropathy10.0
23cerebellar degeneration10.0
24drug induced dyskinesia10.0
25cardiomyopathy10.0
26ataxia10.0
27tremor10.0
28leukemia, acute myeloid10.0HSP90AA1, PML, SNCA, SUMO1
29atrial septal defect 99.9MAPT, SNCA
30polycystic kidney disease 29.6ATXN1, MAPT, RPS27A, SNCA
31parkinson disease, late-onset9.5ATXN3, MAPT, RPS27A, SNCA
32mental retardation, autosomal recessive 329.5ATXN1, ATXN3, RPS27A, SNCA
33basilar impression, primary5.6ABT1, 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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Clinical features from OMIM:

603472

Symptoms:

 52 (show all 18)
  • abnormality of the pharynx
  • ophthalmoplegia
  • nystagmus
  • optic atrophy
  • behavioral abnormality
  • dementia
  • seizures
  • ataxia
  • dysarthria
  • hypertonia
  • hyperreflexia
  • neurological speech impairment
  • eeg abnormality
  • scoliosis
  • spina bifida occulta
  • abnormal form of the vertebral bodies
  • emg abnormality
  • abnormality of movement

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:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.2APBA1, ATXN1, ATXN3, DNM1, HDAC4, MAPT
2MP:00053867.2APBA1, ATXN1, ATXN3, DNM1, HDAC4, HSP90AA1
3MP:00107686.5APBA1, ATXN1, DNM1, HDAC4, HSP90AA1, MAPT

Publications for Neuronal Intranuclear Inclusion Disease

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Articles related to Neuronal Intranuclear Inclusion Disease:

(show all 30)
idTitleAuthorsYear
1
Neuronal intranuclear inclusion disease with leukoencephalopathy and light motor-sensory and autonomic neuropathy diagnosed by skin biopsy. (27538646)
2016
2
Sporadic adult-onset neuronal intranuclear inclusion disease with the main presentation of repeated cerebellar ataxia: a case study. (27181748)
2016
3
Memory Loss and Frontal Cognitive Dysfunction in a Patient with Adult-onset Neuronal Intranuclear Inclusion Disease. (27523009)
2016
4
Optineurin immunoreactivity in neuronal and glial intranuclear inclusions in adult-onset neuronal intranuclear inclusion disease. (25232514)
2014
5
Neuronal intranuclear inclusion disease presenting with resting tremor. (24987362)
2014
6
Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy. (24039026)
2013
7
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease. (21411744)
2011
8
Neuronal intranuclear inclusion disease: no longer a pain in the butt. (21411743)
2011
9
Neuronal intranuclear inclusion disease: two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia. (20629123)
2010
10
Neuronal Intranuclear Inclusion Disease presenting as juvenile Parkinsonism. (20437931)
2010
11
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
12
Neuronal intranuclear inclusion disease presenting as chronic intestinal pseudo-obstruction in the neonatal period in the absence of neurologic symptoms. (16540803)
2006
13
SUMOylation substrates in neuronal intranuclear inclusion disease. (16409557)
2006
14
Neuronal intranuclear inclusion disease without polyglutamine inclusions in a child. (15977647)
2005
15
Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies. (15966005)
2005
16
Neuronal intranuclear inclusion disease in a horse. (15971054)
2005
17
SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease. (14637113)
2003
18
Influences of intranuclear inclusion on nuclear size - morphometric study on pontine neurons of neuronal intranuclear inclusion disease cases. (12536220)
2003
19
Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration. (12164731)
2002
20
Neuronal intranuclear inclusion disease and juvenile parkinsonism. (11009211)
2000
21
Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease. (10443897)
1999
22
Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions. (9804114)
1998
23
Polyglutamine-containing aggregates in neuronal intranuclear inclusion disease. (9525376)
1998
24
Neuronal intranuclear inclusion disease: neuropathologic study of a case. (9760997)
1998
25
Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case. (8787158)
1996
26
Cardiomyopathy and myocyte intranuclear inclusions in neuronal intranuclear inclusion disease: a case report. (1649120)
1991
27
Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy. (2405768)
1990
28
Neuronal intranuclear inclusion disease. Clinical ophthalmological features and ophthalmic pathology. (3028034)
1986
29
Neuronal intranuclear inclusion disease in two adult siblings. (2983603)
1985
30
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
1
Show member pathways
9.9HSP90AA1, SUMO1
2
Show member pathways
9.9HDAC4, SUMO1
39.6HSP90AA1, PML, SUMO1
49.6DNM1, SNCA, STXBP1
59.5HDAC4, HSP90AA1, SUMO1
6
Show member pathways
9.3DNM1, NSF, STXBP1
78.5ATXN1, 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
2synaptic vesicleGO:00080219.9APBA1, DNM1, SNCA
3nuclear matrixGO:00163639.8ATXN1, ATXN3, PML
4protein complexGO:00432349.1APBA1, DNM1, HDAC4, HSP90AA1, STXBP1
5myelin sheathGO:00432098.9DNM1, HSP90AA1, NSF, RPS27A, STXBP1
6nucleoplasmGO:00056547.3ATXN1, ATXN3, HDAC4, HSP90AA1, PML, RPS27A
7plasma membraneGO:00058867.1APBA1, DNM1, HSP90AA1, MAPT, NSF, RPS27A
8cytosolGO:00058296.7APBA1, ATXN3, HDAC4, HSP90AA1, MAPT, NSF
9cytoplasmGO:00057376.0ATXN1, ATXN3, DNM1, HDAC4, HSP90AA1, MAPT
10nucleusGO:00056345.9ABT1, 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:003057810.2PML, SUMO1
2axo-dendritic transportGO:000808810.1APBA1, MAPT
3histone H3 deacetylationGO:007093210.1ATXN3, HDAC4
4positive regulation of receptor recyclingGO:000192110.0NSF, SNCA
5glutamate secretionGO:00140479.9APBA1, STXBP1
6intrinsic apoptotic signaling pathway in response to oxidative stressGO:00086319.9MAPT, PML
7global genome nucleotide-excision repairGO:00709119.8RPS27A, SUMO1
8protein stabilizationGO:00508219.6HSP90AA1, STXBP1, SUMO1
9positive regulation of lamellipodium assemblyGO:00105929.5HDAC4, HSP90AA1

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:00324039.2APBA1, DNM1, MAPT, NSF
4protein kinase bindingGO:00199018.6DNM1, HDAC4, HSP90AA1, MAPT, NSF, STXBP1
5identical protein bindingGO:00428028.3ATXN1, ATXN3, DNM1, HSP90AA1, SNCA, STXBP1
6poly(A) RNA bindingGO:00448228.2ABT1, DNM1, HSP90AA1, RPS27A, STXBP1, SUMO1
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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet