NIID
MCID: NRN008
MIFTS: 39

Neuronal Intranuclear Inclusion Disease (NIID) malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Neuronal Intranuclear Inclusion Disease

Aliases & Descriptions for Neuronal Intranuclear Inclusion Disease:

Name: Neuronal Intranuclear Inclusion Disease 54 50 56 52 69
Neuronal Intranuclear Hyaline Inclusion Disease 50
Niid 50

Characteristics:

Orphanet epidemiological data:

56
neuronal intranuclear inclusion disease
Age of onset: All ages;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 603472
Orphanet 56 ORPHA2289
MESH via Orphanet 43 C537395
UMLS via Orphanet 70 C1863843
ICD10 via Orphanet 34 G31.0

Summaries for Neuronal Intranuclear Inclusion Disease

OMIM : 54 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 ataxia, seizures and ophthalmoplegia. An important gene associated with Neuronal Intranuclear Inclusion Disease is SUMO1 (Small Ubiquitin-Like Modifier 1), and among its related pathways/superpathways are Synaptic vesicle cycle and Neuroscience. Affiliated tissues include brain and skin, and related phenotypes are behavior/neurological and mortality/aging

NIH Rare Diseases : 50 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

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

Clinical features from OMIM:

603472

Human phenotypes related to Neuronal Intranuclear Inclusion Disease:

56 32 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Very frequent (99-80%) HP:0001251
2 seizures 56 32 Frequent (79-30%) HP:0001250
3 ophthalmoplegia 56 32 Frequent (79-30%) HP:0000602
4 nystagmus 56 32 Frequent (79-30%) HP:0000639
5 dysarthria 56 32 Very frequent (99-80%) HP:0001260
6 hyperreflexia 56 32 Frequent (79-30%) HP:0001347
7 eeg abnormality 56 32 Frequent (79-30%) HP:0002353
8 scoliosis 56 32 Frequent (79-30%) HP:0002650
9 behavioral abnormality 56 32 Frequent (79-30%) HP:0000708
10 optic atrophy 56 32 Occasional (29-5%) HP:0000648
11 hypertonia 56 32 Frequent (79-30%) HP:0001276
12 emg abnormality 56 32 Very frequent (99-80%) HP:0003457
13 abnormality of movement 56 32 Very frequent (99-80%) HP:0100022
14 abnormal form of the vertebral bodies 56 32 Frequent (79-30%) HP:0003312
15 dementia 56 32 Frequent (79-30%) HP:0000726
16 abnormality of the pharynx 56 32 Occasional (29-5%) HP:0000600
17 spina bifida occulta 56 32 Frequent (79-30%) HP:0003298
18 neurological speech impairment 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Neuronal Intranuclear Inclusion Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 APBA1 ATXN1 ATXN3 DNM1 HDAC4 HSP90AA1
2 mortality/aging MP:0010768 9.7 APBA1 ATXN1 DNM1 HDAC4 HSP90AA1 MAPT
3 no phenotypic analysis MP:0003012 9.1 APBA1 DNM1 MAPT PML SNCA STXBP1

Drugs & Therapeutics for Neuronal Intranuclear Inclusion Disease

Search Clinical Trials , NIH Clinical Center for Neuronal Intranuclear Inclusion Disease

Genetic Tests for Neuronal Intranuclear Inclusion Disease

Anatomical Context for Neuronal Intranuclear Inclusion Disease

MalaCards organs/tissues related to Neuronal Intranuclear Inclusion Disease:

39
Brain, Skin

Publications for Neuronal Intranuclear Inclusion Disease

Articles related to Neuronal Intranuclear Inclusion Disease:

(show all 32)
id Title Authors Year
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

Expression for Neuronal Intranuclear Inclusion Disease

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

Pathways for Neuronal Intranuclear Inclusion Disease

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.56 DNM1 NSF STXBP1
2 11.53 ATXN1 MAPT NSF SNCA STXBP1
3 10.77 HSP90AA1 SUMO1
4 10.66 HDAC4 HSP90AA1 SUMO1
5 10.34 ATXN3 RPS27A
6 10.2 HDAC4 SUMO1

GO Terms for Neuronal Intranuclear Inclusion Disease

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

id Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.77 APBA1 ATXN1 ATXN3 DNM1 HDAC4 HSP90AA1
2 nucleolus GO:0005730 9.63 ABT1 ATXN1 ATXN3 PML RPS27A SUMO1
3 synaptic vesicle GO:0008021 9.58 APBA1 DNM1 SNCA
4 nuclear matrix GO:0016363 9.54 ATXN1 ATXN3 PML
5 heterochromatin GO:0000792 9.48 PML SUMO1
6 nuclear inclusion body GO:0042405 9.32 ATXN1 ATXN3
7 myelin sheath GO:0043209 9.02 DNM1 HSP90AA1 NSF RPS27A STXBP1
8 nucleus GO:0005634 10.17 ABT1 APBA1 ATXN1 ATXN3 HDAC4 HSP90AA1
9 nucleoplasm GO:0005654 10.06 ATXN1 ATXN3 HDAC4 HSP90AA1 PML RPS27A
10 cytosol GO:0005829 10 APBA1 ATXN1 ATXN3 HDAC4 HSP90AA1 MAPT

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

id Name GO ID Score Top Affiliating Genes
1 protein stabilization GO:0050821 9.58 HSP90AA1 STXBP1 SUMO1
2 response to interleukin-1 GO:0070555 9.48 HDAC4 SNCA
3 global genome nucleotide-excision repair GO:0070911 9.46 RPS27A SUMO1
4 glutamate secretion GO:0014047 9.43 APBA1 STXBP1
5 positive regulation of receptor recycling GO:0001921 9.37 NSF SNCA
6 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.33 MAPT PML SNCA
7 microglial cell activation GO:0001774 9.32 MAPT SNCA
8 supramolecular fiber organization GO:0097435 9.26 MAPT SNCA
9 PML body organization GO:0030578 8.96 PML SUMO1
10 cellular response to heat GO:0034605 8.8 ATXN3 MAPT SUMO1

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

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.8 ABT1 APBA1 ATXN1 ATXN3 DNM1 HDAC4
2 RNA binding GO:0003723 9.7 ABT1 ATXN1 DNM1 HSP90AA1 RPS27A STXBP1
3 protein kinase binding GO:0019901 9.62 DNM1 HDAC4 NSF STXBP1
4 protein C-terminus binding GO:0008022 9.54 ATXN1 DNM1 SUMO1
5 syntaxin-1 binding GO:0017075 9.26 NSF STXBP1
6 identical protein binding GO:0042802 9.17 ATXN1 ATXN3 DNM1 HSP90AA1 MAPT SNCA

Sources for Neuronal Intranuclear Inclusion Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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