NIID
MCID: NRN008
MIFTS: 39

Neuronal Intranuclear Inclusion Disease (NIID) malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Neuronal Intranuclear Inclusion Disease

About this section
Sources:
31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Neuronal Intranuclear Inclusion Disease:

Name: Neuronal Intranuclear Inclusion Disease 52 48 54 50 68
Neuronal Intranuclear Hyaline Inclusion Disease 48
 
Niid 48

Characteristics:

Orphanet epidemiological data:

54

Classifications:



External Ids:

OMIM52 603472
Orphanet54 ORPHA2289
MESH via Orphanet40 C537395
UMLS via Orphanet69 C1863843
ICD10 via Orphanet31 G31.0

Summaries for Neuronal Intranuclear Inclusion Disease

About this section
OMIM:52 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 spink1-related hereditary pancreatitis, and has symptoms including Array, Array and Array. 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 AHR Pathway. Affiliated tissues include brain and skin, and related mouse phenotypes are no phenotypic analysis and behavior/neurological.

NIH Rare Diseases:48 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

About this section

Graphical network of the top 20 diseases related to Neuronal Intranuclear Inclusion Disease:



Diseases related to neuronal intranuclear inclusion disease

Symptoms & Phenotypes for Neuronal Intranuclear Inclusion Disease

About this section


Clinical features from OMIM:

603472

Human phenotypes related to Neuronal Intranuclear Inclusion Disease:

 54 64 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the pharynx64 54 Occasional (29-5%) HP:0000600
2 ophthalmoplegia64 54 Frequent (79-30%) HP:0000602
3 nystagmus64 54 Frequent (79-30%) HP:0000639
4 optic atrophy64 54 Occasional (29-5%) HP:0000648
5 behavioral abnormality64 54 Frequent (79-30%) HP:0000708
6 dementia64 54 Frequent (79-30%) HP:0000726
7 seizures64 54 Frequent (79-30%) HP:0001250
8 ataxia64 54 Very frequent (99-80%) HP:0001251
9 dysarthria64 54 Very frequent (99-80%) HP:0001260
10 hypertonia64 54 Frequent (79-30%) HP:0001276
11 hyperreflexia64 54 Frequent (79-30%) HP:0001347
12 neurological speech impairment54 Very frequent (99-80%)
13 eeg abnormality64 54 Frequent (79-30%) HP:0002353
14 scoliosis64 54 Frequent (79-30%) HP:0002650
15 spina bifida occulta64 54 Frequent (79-30%) HP:0003298
16 abnormal form of the vertebral bodies64 54 Frequent (79-30%) HP:0003312
17 emg abnormality64 54 Very frequent (99-80%) HP:0003457
18 abnormality of movement64 54 Very frequent (99-80%) HP:0100022

MGI Mouse Phenotypes related to Neuronal Intranuclear Inclusion Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.2APBA1, DNM1, MAPT, PML, SNCA, STXBP1
2MP:00053867.7APBA1, ATXN1, ATXN3, DNM1, HDAC4, HSP90AA1
3MP:00107686.9APBA1, ATXN1, DNM1, HDAC4, HSP90AA1, MAPT

Drugs & Therapeutics for Neuronal Intranuclear Inclusion Disease

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Neuronal Intranuclear Inclusion Disease

Genetic Tests for Neuronal Intranuclear Inclusion Disease

About this section

Anatomical Context for Neuronal Intranuclear Inclusion Disease

About this section

MalaCards organs/tissues related to Neuronal Intranuclear Inclusion Disease:

36
Brain, Skin

Publications for Neuronal Intranuclear Inclusion Disease

About this section

Articles related to Neuronal Intranuclear Inclusion Disease:

(show all 32)
idTitleAuthorsYear
1
Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. (27797808)
2016
2
Pathological background of subcortical hyperintensities on diffusion-weighted images in a case of neuronal intranuclear inclusion disease. (27719745)
2016
3
Memory Loss and Frontal Cognitive Dysfunction in a Patient with Adult-onset Neuronal Intranuclear Inclusion Disease. (27523009)
2016
4
Neuronal intranuclear inclusion disease with leukoencephalopathy and light motor-sensory and autonomic neuropathy diagnosed by skin biopsy. (27538646)
2016
5
Sporadic adult-onset neuronal intranuclear inclusion disease with the main presentation of repeated cerebellar ataxia: a case study. (27181748)
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
Neuronal intranuclear inclusion disease: no longer a pain in the butt. (21411743)
2011
10
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease. (21411744)
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
SUMOylation substrates in neuronal intranuclear inclusion disease. (16409557)
2006
15
Neuronal intranuclear inclusion disease presenting as chronic intestinal pseudo-obstruction in the neonatal period in the absence of neurologic symptoms. (16540803)
2006
16
Neuronal intranuclear inclusion disease in a horse. (15971054)
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 without polyglutamine inclusions in a child. (15977647)
2005
19
Influences of intranuclear inclusion on nuclear size - morphometric study on pontine neurons of neuronal intranuclear inclusion disease cases. (12536220)
2003
20
SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease. (14637113)
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
Neuronal intranuclear inclusion disease: neuropathologic study of a case. (9760997)
1998
25
Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions. (9804114)
1998
26
Polyglutamine-containing aggregates in neuronal intranuclear inclusion disease. (9525376)
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

About this section

Expression for genes affiliated with Neuronal Intranuclear Inclusion Disease

About this section
Search GEO for disease gene expression data for Neuronal Intranuclear Inclusion Disease.

Pathways for genes affiliated with Neuronal Intranuclear Inclusion Disease

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.9HDAC4, SUMO1
29.9HSP90AA1, SUMO1
39.6HDAC4, HSP90AA1, SUMO1
49.5ATXN3, RPS27A
5
Show member pathways
9.2DNM1, NSF, STXBP1
68.6ATXN1, MAPT, NSF, SNCA, STXBP1

GO Terms for genes affiliated with Neuronal Intranuclear Inclusion Disease

About this section

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

idNameGO IDScoreTop Affiliating Genes
1heterochromatinGO:000079210.8PML, SUMO1
2nuclear inclusion bodyGO:004240510.4ATXN1, ATXN3
3nuclear matrixGO:001636310.2ATXN1, ATXN3, PML
4myelin sheathGO:00432099.2DNM1, HSP90AA1, NSF, RPS27A, STXBP1
5synaptic vesicleGO:00080219.0APBA1, DNM1, SNCA
6nucleolusGO:00057308.9ABT1, ATXN1, ATXN3, PML, RPS27A, SUMO1
7nucleoplasmGO:00056548.5ATXN1, ATXN3, HDAC4, HSP90AA1, PML, RPS27A
8cytosolGO:00058296.7APBA1, ATXN1, ATXN3, HDAC4, HSP90AA1, MAPT
9nucleusGO:00056346.5ABT1, APBA1, ATXN1, ATXN3, HDAC4, HSP90AA1
10cytoplasmGO:00057376.1APBA1, ATXN1, ATXN3, DNM1, HDAC4, HSP90AA1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1PML body organizationGO:003057810.6PML, SUMO1
2microglial cell activationGO:000177410.5MAPT, SNCA
3global genome nucleotide-excision repairGO:007091110.3RPS27A, SUMO1
4activation of cysteine-type endopeptidase activity involved in apoptotic processGO:000691910.2MAPT, PML, SNCA
5response to interleukin-1GO:007055510.2HDAC4, SNCA
6positive regulation of receptor recyclingGO:000192110.2NSF, SNCA
7cellular response to heatGO:003460510.1ATXN3, MAPT, SUMO1
8protein stabilizationGO:005082110.1HSP90AA1, STXBP1, SUMO1
9glutamate secretionGO:001404710.0APBA1, STXBP1
10supramolecular fiber organizationGO:00974359.9MAPT, SNCA

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

idNameGO IDScoreTop Affiliating Genes
1protein C-terminus bindingGO:000802210.2ATXN1, DNM1, SUMO1
2protein kinase bindingGO:00199019.6DNM1, HDAC4, NSF, STXBP1
3syntaxin-1 bindingGO:00170759.6NSF, STXBP1
4identical protein bindingGO:00428028.8ATXN1, ATXN3, DNM1, HSP90AA1, MAPT, SNCA
5RNA bindingGO:00037238.1ABT1, ATXN1, DNM1, HSP90AA1, RPS27A, STXBP1
6protein bindingGO:00055155.5ABT1, APBA1, ATXN1, ATXN3, DNM1, HDAC4

Sources for Neuronal Intranuclear Inclusion Disease

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet