MCID: NRN008
MIFTS: 44

Neuronal Intranuclear Inclusion Disease

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Neuronal Intranuclear Inclusion Disease

MalaCards integrated aliases for Neuronal Intranuclear Inclusion Disease:

Name: Neuronal Intranuclear Inclusion Disease 53 49 55 51 69
Niid 53 49
Neuronal Intranuclear Hyaline Inclusion Disease 49

Characteristics:

Orphanet epidemiological data:

55
neuronal intranuclear inclusion disease
Age of onset: All ages;

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 603472
Orphanet 55 ORPHA2289
MESH via Orphanet 42 C537395
UMLS via Orphanet 70 C1863843
ICD10 via Orphanet 33 G31.0
UMLS 69 C1863843

Summaries for Neuronal Intranuclear Inclusion Disease

NIH Rare Diseases : 49 Neuronal intranuclear inclusion disease (NIID) is a slowly progressive, neurodegenerative disease. NIID may affect any part of the nervous system (central, peripheral, and/or autonomic), as well as various organs. Signs and symptoms may begin anywhere from infancy to late adulthood, and can vary from person to person. In most cases, the disease begins in childhood. Symptoms of NIID worsen over time and may include dementia, limb weakness, cerebellar ataxia, dystonia, parkinsonism, seizures, and autonomic dysfunction. Therefore, people with NIID may have impairment of balance, movement, cognition, communication, behavior, and the ability to function independently. In general, limb weakness and ataxia are more common in children with NIID, while dementia is more common in people diagnosed in adulthood. The features of NIID result from the presence of eosinophilic intranuclear inclusions inside neurons and glial cells (abnormal masses of substances in the nuclei of cells of the nervous system). The reason this occurs is not known. Both sporadic and familial cases have been reported. However, specific genes known to cause NIID have not yet been found. Currently there is no treatment that cures or slows the progression of NIID, but medications that help control symptoms may improve quality of life. While the disease is ultimately fatal, life expectancy can range significantly, from one year to several decades after the diagnosis. Last updated: 11/6/2017

MalaCards based summary : Neuronal Intranuclear Inclusion Disease, also known as niid, is related to neuronitis and parkinson disease 3, autosomal dominant, 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 Neuroscience and Synaptic vesicle cycle. Affiliated tissues include skin, brain and cerebellum, and related phenotypes are behavior/neurological and mortality/aging

OMIM : 53 Neuronal intranuclear inclusion disease (NIID) is characterized pathologically by eosinophilic intranuclear inclusions in neurons of the peripheral, central, and autonomic nervous systems associated with varying degrees of neuronal loss. Symptoms usually begin in childhood but adult-onset cases have also been described. Clinical expression is variable, depending on the sites of maximal neuronal loss, but is usually a multisystem degenerative process of the central nervous system or a visceral neuropathy (summary by Kimber et al., 1998). See the neuronal form of intestinal pseudoobstruction (243180). (603472)

Related Diseases for Neuronal Intranuclear Inclusion Disease

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 neuronitis 10.7
2 parkinson disease 3, autosomal dominant 10.2 MAPT SNCA
3 postencephalitic parkinson disease 10.2 MAPT SNCA
4 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.1 MAPT RPS27A
5 semantic dementia 10.1 MAPT RPS27A
6 spinocerebellar degeneration 10.1 ATXN1 ATXN3
7 multiple system atrophy 1 10.0 ATXN1 MAPT SNCA
8 rem sleep behavior disorder 10.0 RPS27A SNCA
9 leukoencephalopathy, hereditary diffuse, with spheroids 10.0 MAPT RPS27A SNCA
10 pick disease of brain 10.0 MAPT RPS27A SNCA
11 supranuclear palsy, progressive, 1 10.0 MAPT RPS27A SNCA
12 synucleinopathy 10.0 MAPT RPS27A SNCA
13 nervous system disease 10.0 ATXN3 MAPT SNCA
14 dementia, lewy body 9.9 MAPT RPS27A SNCA
15 spinal and bulbar muscular atrophy, x-linked 1 9.9 ATXN1 ATXN3 HSP90AA1
16 ataxia and polyneuropathy, adult-onset 9.9
17 aceruloplasminemia 9.9
18 episodic pain syndrome, familial, 1 9.9
19 ataxia-oculomotor apraxia 3 9.9
20 autonomic neuropathy 9.9
21 transient global amnesia 9.9
22 intestinal pseudo-obstruction 9.9
23 dystonia 9.9
24 neuropathy 9.9
25 cerebellar degeneration 9.9
26 drug induced dyskinesia 9.9
27 tremor 9.9
28 central nervous system disease 9.9 ATXN3 MAPT SNCA
29 autosomal dominant cerebellar ataxia 9.9 ATXN1 ATXN3 SNCA
30 hereditary ataxia 9.7 ATXN1 ATXN3
31 frontotemporal dementia 9.7 MAPT RPS27A SNCA
32 machado-joseph disease 9.6 ATXN1 ATXN3 RPS27A SNCA
33 parkinson disease, late-onset 9.6 ATXN3 MAPT RPS27A SNCA

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:

55 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
3 ophthalmoplegia 55 31 frequent (33%) Frequent (79-30%) HP:0000602
4 nystagmus 55 31 frequent (33%) Frequent (79-30%) HP:0000639
5 dysarthria 55 31 hallmark (90%) Very frequent (99-80%) HP:0001260
6 hyperreflexia 55 31 frequent (33%) Frequent (79-30%) HP:0001347
7 eeg abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0002353
8 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
9 behavioral abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0000708
10 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
11 hypertonia 55 31 frequent (33%) Frequent (79-30%) HP:0001276
12 emg abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0003457
13 abnormality of movement 55 31 hallmark (90%) Very frequent (99-80%) HP:0100022
14 abnormal form of the vertebral bodies 55 31 frequent (33%) Frequent (79-30%) HP:0003312
15 dementia 55 31 frequent (33%) Frequent (79-30%) HP:0000726
16 abnormality of the pharynx 55 31 occasional (7.5%) Occasional (29-5%) HP:0000600
17 spina bifida occulta 55 31 frequent (33%) Frequent (79-30%) HP:0003298
18 neurological speech impairment 55 Very frequent (99-80%)

MGI Mouse Phenotypes related to Neuronal Intranuclear Inclusion Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 APBA1 ATXN1 ATXN3 DNM1 HDAC4 HSP90AA1
2 mortality/aging MP:0010768 9.7 DNM1 HDAC4 HSP90AA1 MAPT NSF PML
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:

38
Skin, Brain, Cerebellum

Publications for Neuronal Intranuclear Inclusion Disease

Articles related to Neuronal Intranuclear Inclusion Disease:

(show all 40)
# Title Authors Year
1
A case of neuronal intranuclear inclusion disease associated with lupus nephritis-like nephropathy. ( 29430526 )
2018
2
Non-lesional skin biopsy for a diagnosis of neuronal intranuclear inclusion disease. ( 29083045 )
2017
3
Neurologic attack and dynamic perfusion abnormality in neuronal intranuclear inclusion disease. ( 29431160 )
2017
4
MR Imaging Features of the Cerebellum in Adult-Onset Neuronal Intranuclear Inclusion Disease: 8 Cases. ( 28818825 )
2017
5
Over 10a88years MRI observation of a patient with neuronal intranuclear inclusion disease. ( 28237949 )
2017
6
A Case of Juvenile Onset Neuronal Intranuclear Inclusion Disease With a Negative Antemortem Skin Biopsy. ( 28853324 )
2017
7
Adult-onset neuronal intranuclear inclusion disease presented transient global amnesia-a case report. ( 28552870 )
2017
8
Case of a 78-year-old woman with a neuronal intranuclear inclusion disease. ( 29265760 )
2017
9
Pathological background of subcortical hyperintensities on diffusion-weighted images in a case of neuronal intranuclear inclusion disease. ( 27719745 )
2016
10
Sporadic adult-onset neuronal intranuclear inclusion disease with the main presentation of repeated cerebellar ataxia: a case study. ( 27181748 )
2016
11
Memory Loss and Frontal Cognitive Dysfunction in a Patient with Adult-onset Neuronal Intranuclear Inclusion Disease. ( 27523009 )
2016
12
Neuronal intranuclear inclusion disease with leukoencephalopathy and light motor-sensory and autonomic neuropathy diagnosed by skin biopsy. ( 27538646 )
2016
13
Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. ( 27797808 )
2016
14
Optineurin immunoreactivity in neuronal and glial intranuclear inclusions in adult-onset neuronal intranuclear inclusion disease. ( 25232514 )
2014
15
Neuronal intranuclear inclusion disease presenting with resting tremor. ( 24987362 )
2014
16
Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy. ( 24039026 )
2013
17
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease. ( 21411744 )
2011
18
Neuronal intranuclear inclusion disease: no longer a pain in the butt. ( 21411743 )
2011
19
Neuronal Intranuclear Inclusion Disease presenting as juvenile Parkinsonism. ( 20437931 )
2010
20
Neuronal intranuclear inclusion disease: two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia. ( 20629123 )
2010
21
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
22
Neuronal intranuclear inclusion disease presenting as chronic intestinal pseudo-obstruction in the neonatal period in the absence of neurologic symptoms. ( 16540803 )
2006
23
SUMOylation substrates in neuronal intranuclear inclusion disease. ( 16409557 )
2006
24
Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies. ( 15966005 )
2005
25
Neuronal intranuclear inclusion disease without polyglutamine inclusions in a child. ( 15977647 )
2005
26
Neuronal intranuclear inclusion disease in a horse. ( 15971054 )
2005
27
SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease. ( 14637113 )
2003
28
Influences of intranuclear inclusion on nuclear size - morphometric study on pontine neurons of neuronal intranuclear inclusion disease cases. ( 12536220 )
2003
29
Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration. ( 12164731 )
2002
30
Neuronal intranuclear inclusion disease and juvenile parkinsonism. ( 11009211 )
2000
31
Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease. ( 10443897 )
1999
32
Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions. ( 9804114 )
1998
33
Neuronal intranuclear inclusion disease: neuropathologic study of a case. ( 9760997 )
1998
34
Polyglutamine-containing aggregates in neuronal intranuclear inclusion disease. ( 9525376 )
1998
35
Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case. ( 8787158 )
1996
36
Cardiomyopathy and myocyte intranuclear inclusions in neuronal intranuclear inclusion disease: a case report. ( 1649120 )
1991
37
Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy. ( 2405768 )
1990
38
Neuronal intranuclear inclusion disease. Clinical ophthalmological features and ophthalmic pathology. ( 3028034 )
1986
39
Neuronal intranuclear inclusion disease in two adult siblings. ( 2983603 )
1985
40
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:

# Super pathways Score Top Affiliating Genes
1 11.63 ATXN1 MAPT NSF RPS27A SNCA STXBP1
2
Show member pathways
11.56 DNM1 NSF 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:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.97 ABT1 APBA1 ATXN1 ATXN3 DNM1 HDAC4
2 nucleolus GO:0005730 9.8 ABT1 ATXN1 ATXN3 PML RPS27A SUMO1
3 cytoplasm GO:0005737 9.77 APBA1 ATXN1 ATXN3 DNM1 HDAC4 HSP90AA1
4 synaptic vesicle GO:0008021 9.63 APBA1 DNM1 SNCA
5 nuclear matrix GO:0016363 9.61 ATXN1 ATXN3 PML
6 heterochromatin GO:0000792 9.48 PML SUMO1
7 nuclear inclusion body GO:0042405 9.4 ATXN1 ATXN3
8 myelin sheath GO:0043209 9.02 DNM1 HSP90AA1 NSF RPS27A STXBP1
9 nucleoplasm GO:0005654 10.02 ATXN1 ATXN3 DNM1 HDAC4 HSP90AA1 PML
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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein stabilization GO:0050821 9.58 HSP90AA1 STXBP1 SUMO1
2 positive regulation of neuron death GO:1901216 9.49 MAPT SNCA
3 response to interleukin-1 GO:0070555 9.48 HDAC4 SNCA
4 global genome nucleotide-excision repair GO:0070911 9.46 RPS27A SUMO1
5 glutamate secretion GO:0014047 9.43 APBA1 STXBP1
6 microglial cell activation GO:0001774 9.37 MAPT SNCA
7 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.33 MAPT PML SNCA
8 positive regulation of receptor recycling GO:0001921 9.32 NSF SNCA
9 supramolecular fiber organization GO:0097435 9.26 MAPT SNCA
10 PML body organization GO:0030578 8.96 PML SUMO1
11 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:

# 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 9.67 DNM1 HDAC4 NSF STXBP1
4 protein C-terminus binding GO:0008022 9.58 ATXN1 DNM1 SUMO1
5 syntaxin-1 binding GO:0017075 9.32 NSF STXBP1
6 phospholipase binding GO:0043274 9.26 SNCA STXBP1
7 identical protein binding GO:0042802 9.23 ATXN1 ATXN3 DNM1 HDAC4 HSP90AA1 MAPT

Sources for Neuronal Intranuclear Inclusion Disease

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