NIID
MCID: NRN008
MIFTS: 45

Neuronal Intranuclear Inclusion Disease (NIID)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Neuronal Intranuclear Inclusion Disease

MalaCards integrated aliases for Neuronal Intranuclear Inclusion Disease:

Name: Neuronal Intranuclear Inclusion Disease 58 54 60 56 74
Niid 58 54
Neuronal Intranuclear Hyaline Inclusion Disease 54

Characteristics:

Orphanet epidemiological data:

60
neuronal intranuclear inclusion disease
Age of onset: All ages;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 603472
MESH via Orphanet 46 C537395
ICD10 via Orphanet 35 G31.0
UMLS via Orphanet 75 C1863843
Orphanet 60 ORPHA2289
UMLS 74 C1863843

Summaries for Neuronal Intranuclear Inclusion Disease

NIH Rare Diseases : 54 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.

MalaCards based summary : Neuronal Intranuclear Inclusion Disease, also known as niid, is related to aceruloplasminemia and neuropathy. An important gene associated with Neuronal Intranuclear Inclusion Disease is RPS27A (Ribosomal Protein S27a), and among its related pathways/superpathways are Chks in Checkpoint Regulation and Neuroscience. Affiliated tissues include brain, skin and cerebellum, and related phenotypes are ataxia and dysarthria

OMIM : 58 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 36)
# Related Disease Score Top Affiliating Genes
1 aceruloplasminemia 29.8 ATXN1 ATXN3 DNM1 SNCA
2 neuropathy 10.2
3 tremor 10.2
4 night blindness 10.2
5 fundus dystrophy 10.2
6 leptospirosis 10.1
7 spinal and bulbar muscular atrophy, x-linked 1 10.1 ATXN1 ATXN3 HSP90AA1
8 primary lateral sclerosis, adult, 1 10.1 MAPT SNCA
9 parkinson disease 3, autosomal dominant 10.1 MAPT SNCA
10 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.0 MAPT RPS27A
11 ataxia and polyneuropathy, adult-onset 10.0
12 fragile x-associated tremor/ataxia syndrome 10.0
13 autonomic neuropathy 10.0
14 transient global amnesia 10.0
15 dementia 10.0
16 status epilepticus 10.0
17 intestinal pseudo-obstruction 10.0
18 dystonia 10.0
19 cerebellar degeneration 10.0
20 drug induced dyskinesia 10.0
21 postencephalitic parkinson disease 10.0 MAPT SNCA
22 semantic dementia 10.0 MAPT RPS27A
23 primary cerebellar degeneration 10.0 ATXN1 ATXN3 RPS27A
24 undetermined early-onset epileptic encephalopathy 10.0 DNM1 STXBP1
25 rem sleep behavior disorder 9.9 RPS27A SNCA
26 nervous system disease 9.9 ATXN3 MAPT SNCA
27 central nervous system disease 9.9 ATXN3 MAPT SNCA
28 supranuclear palsy, progressive, 1 9.8 MAPT RPS27A SNCA
29 pick disease of brain 9.8 MAPT RPS27A SNCA
30 leukoencephalopathy, hereditary diffuse, with spheroids 9.8 MAPT RPS27A SNCA
31 dementia, lewy body 9.8 MAPT RPS27A SNCA
32 machado-joseph disease 9.7 ATXN1 ATXN3 RPS27A SNCA
33 motor neuron disease 9.7 MAPT RPS27A SNCA
34 corticobasal degeneration 9.7 MAPT RPS27A
35 multiple system atrophy 1 9.7 ATXN1 MAPT RPS27A SNCA
36 frontotemporal dementia 9.6 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

Human phenotypes related to Neuronal Intranuclear Inclusion Disease:

60 33 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
2 dysarthria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001260
3 emg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0003457
4 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
5 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
6 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
7 eeg abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0002353
8 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
9 behavioral abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0000708
10 hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0001276
11 abnormal form of the vertebral bodies 60 33 frequent (33%) Frequent (79-30%) HP:0003312
12 ophthalmoplegia 60 33 frequent (33%) Frequent (79-30%) HP:0000602
13 dementia 60 33 frequent (33%) Frequent (79-30%) HP:0000726
14 spina bifida occulta 60 33 frequent (33%) Frequent (79-30%) HP:0003298
15 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
16 abnormality of the pharynx 60 33 occasional (7.5%) Occasional (29-5%) HP:0000600
17 neurological speech impairment 60 Very frequent (99-80%)
18 abnormality of movement 60 Very frequent (99-80%)

Clinical features from OMIM:

603472

MGI Mouse Phenotypes related to Neuronal Intranuclear Inclusion Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 APBA1 ATXN1 ATXN3 DNM1 HDAC4 HSP90AA1
2 mortality/aging MP:0010768 9.9 APBA1 ATXN1 DNM1 HDAC4 HSP90AA1 MAPT
3 nervous system MP:0003631 9.56 APBA1 ATXN1 ATXN3 DNM1 HDAC4 MAPT
4 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:

42
Brain, Skin, Cerebellum

Publications for Neuronal Intranuclear Inclusion Disease

Articles related to Neuronal Intranuclear Inclusion Disease:

(show top 50) (show all 51)
# Title Authors Year
1
A multimodal imaging features of the brain in adult-onset neuronal intranuclear inclusion disease. ( 30726521 )
2019
2
Correction to: A multimodal imaging features of the brain in adult-onset neuronal intranuclear inclusion disease. ( 30806862 )
2019
3
Non-convulsive status epilepticus associated with neuronal intranuclear inclusion disease: A case report and literature review. ( 30891404 )
2019
4
A case of neuronal intranuclear inclusion disease associated with lupus nephritis-like nephropathy. ( 29430526 )
2018
5
Disappearance of MRI imaging signals in a patient with neuronal intranuclear inclusion disease. ( 29626999 )
2018
6
An Autopsy Case of Familial Neuronal Intranuclear Inclusion Disease with Dementia and Neuropathy. ( 30101925 )
2018
7
MR Imaging Features of Adult-Onset Neuronal Intranuclear Inclusion Disease May Be Indistinguishable from Fragile X-Associated Tremor/Ataxia Syndrome. ( 30072371 )
2018
8
Two cases of sporadic adult-onset neuronal intranuclear inclusion disease preceded by urinary disturbance for many years. ( 30031993 )
2018
9
Neuronal intranuclear inclusion disease showing intranuclear inclusions in renal biopsy 12 years earlier. ( 30282768 )
2018
10
A long time radiological follow-up of neuronal intranuclear inclusion disease: Two case reports. ( 30544465 )
2018
11
Neurologic attack and dynamic perfusion abnormality in neuronal intranuclear inclusion disease. ( 29431160 )
2017
12
A Case of Juvenile Onset Neuronal Intranuclear Inclusion Disease With a Negative Antemortem Skin Biopsy. ( 28853324 )
2017
13
Non-lesional skin biopsy for a diagnosis of neuronal intranuclear inclusion disease. ( 29083045 )
2017
14
Case of a 78-year-old woman with a neuronal intranuclear inclusion disease. ( 29265760 )
2017
15
MR Imaging Features of the Cerebellum in Adult-Onset Neuronal Intranuclear Inclusion Disease: 8 Cases. ( 28818825 )
2017
16
Over 10a88years MRI observation of a patient with neuronal intranuclear inclusion disease. ( 28237949 )
2017
17
Adult-onset neuronal intranuclear inclusion disease presented transient global amnesia-a case report. ( 28552870 )
2017
18
Sporadic adult-onset neuronal intranuclear inclusion disease with the main presentation of repeated cerebellar ataxia: a case study. ( 27181748 )
2016
19
Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. ( 27797808 )
2016
20
Pathological background of subcortical hyperintensities on diffusion-weighted images in a case of neuronal intranuclear inclusion disease. ( 27719745 )
2016
21
Memory Loss and Frontal Cognitive Dysfunction in a Patient with Adult-onset Neuronal Intranuclear Inclusion Disease. ( 27523009 )
2016
22
Neuronal intranuclear inclusion disease with leukoencephalopathy and light motor-sensory and autonomic neuropathy diagnosed by skin biopsy. ( 27538646 )
2016
23
Complete Genome Sequences of Low-Passage Virulent and High-Passage Avirulent Variants of Pathogenic Leptospira interrogans Serovar Manilae Strain UP-MMC-NIID, Originally Isolated from a Patient with Severe Leptospirosis, Determined Using PacBio Single-Molecule Real-Time Technology. ( 26272567 )
2015
24
Neuronal intranuclear inclusion disease presenting with resting tremor. ( 24987362 )
2014
25
Optineurin immunoreactivity in neuronal and glial intranuclear inclusions in adult-onset neuronal intranuclear inclusion disease. ( 25232514 )
2014
26
Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy. ( 24039026 )
2013
27
Neuronal intranuclear inclusion disease: no longer a pain in the butt. ( 21411743 )
2011
28
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease. ( 21411744 )
2011
29
Neuronal Intranuclear Inclusion Disease presenting as juvenile Parkinsonism. ( 20437931 )
2010
30
Neuronal intranuclear inclusion disease: two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia. ( 20629123 )
2010
31
Neuronal intranuclear inclusion disease presenting as chronic intestinal pseudo-obstruction in the neonatal period in the absence of neurologic symptoms. ( 16540803 )
2006
32
SUMOylation substrates in neuronal intranuclear inclusion disease. ( 16409557 )
2006
33
Neuronal intranuclear inclusion disease in a horse. ( 15971054 )
2005
34
Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies. ( 15966005 )
2005
35
Neuronal intranuclear inclusion disease without polyglutamine inclusions in a child. ( 15977647 )
2005
36
Influences of intranuclear inclusion on nuclear size - morphometric study on pontine neurons of neuronal intranuclear inclusion disease cases. ( 12536220 )
2003
37
SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease. ( 14637113 )
2003
38
Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration. ( 12164731 )
2002
39
Neuronal intranuclear inclusion disease and juvenile parkinsonism. ( 11009211 )
2000
40
Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease. ( 10443897 )
1999
41
AIDS vaccine research in Asia: needs and opportunities. Report from a UNAIDS/WHO/NIID meeting Tokyo, 28-30 October 1998. ( 10449273 )
1999
42
Experiences of microbial contamination of animal colonies maintained in the National Institute of Infectious Diseases, Japan (NIID). ( 10738369 )
1999
43
Polyglutamine-containing aggregates in neuronal intranuclear inclusion disease. ( 9525376 )
1998
44
Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions. ( 9804114 )
1998
45
Neuronal intranuclear inclusion disease: neuropathologic study of a case. ( 9760997 )
1998
46
Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case. ( 8787158 )
1996
47
Cardiomyopathy and myocyte intranuclear inclusions in neuronal intranuclear inclusion disease: a case report. ( 1649120 )
1991
48
Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy. ( 2405768 )
1990
49
Neuronal intranuclear inclusion disease. Clinical ophthalmological features and ophthalmic pathology. ( 3028034 )
1986
50
Neuronal intranuclear inclusion disease in two adult siblings. ( 2983603 )
1985

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

GO Terms for Neuronal Intranuclear Inclusion Disease

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.99 ABT1 ATXN1 ATXN3 PML RPS27A SUMO1
2 nucleoplasm GO:0005654 9.97 ATXN1 ATXN3 DNM1 HDAC4 HSP90AA1 PML
3 cytoplasm GO:0005737 9.97 APBA1 ATXN1 ATXN3 DNM1 HDAC4 HSP90AA1
4 axon GO:0030424 9.78 DNM1 MAPT SNCA STXBP1
5 nucleus GO:0005634 9.77 ABT1 APBA1 ATXN1 ATXN3 DNM1 HDAC4
6 dendritic spine GO:0043197 9.7 APBA1 DNM1 MAPT
7 synaptic vesicle GO:0008021 9.67 APBA1 DNM1 SNCA
8 nuclear matrix GO:0016363 9.61 ATXN1 ATXN3 PML
9 myelin sheath GO:0043209 9.56 DNM1 HSP90AA1 NSF STXBP1
10 heterochromatin GO:0000792 9.54 PML SUMO1
11 nuclear inclusion body GO:0042405 9.4 ATXN1 ATXN3
12 cytosol GO:0005829 9.4 APBA1 ATXN1 ATXN3 HDAC4 HSP90AA1 MAPT
13 presynaptic active zone membrane GO:0048787 9.37 APBA1 STXBP1
14 plasma membrane GO:0005886 10.16 APBA1 ATXN3 DNM1 HSP90AA1 MAPT NSF

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.8 ATXN1 HDAC4 RPS27A SNCA SUMO1
2 protein stabilization GO:0050821 9.65 HSP90AA1 STXBP1 SUMO1
3 positive regulation of neuron death GO:1901216 9.51 MAPT SNCA
4 response to interleukin-1 GO:0070555 9.49 HDAC4 SNCA
5 microglial cell activation GO:0001774 9.43 MAPT SNCA
6 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.43 MAPT PML SNCA
7 positive regulation of receptor recycling GO:0001921 9.37 NSF SNCA
8 supramolecular fiber organization GO:0097435 9.32 MAPT SNCA
9 histone H3 deacetylation GO:0070932 9.16 HDAC4
10 PML body organization GO:0030578 9.16 PML SUMO1
11 protein sumoylation GO:0016925 9.13 HDAC4 PML SUMO1
12 cellular response to heat GO:0034605 8.92 ATXN3 HSP90AA1 MAPT SUMO1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.8 ATXN1 DNM1 HDAC4 HSP90AA1 MAPT SNCA
2 protein kinase binding GO:0019901 9.77 DNM1 HDAC4 MAPT NSF STXBP1
3 protein C-terminus binding GO:0008022 9.69 ATXN1 DNM1 SUMO1
4 RNA binding GO:0003723 9.56 ABT1 ATXN1 DNM1 HSP90AA1 MAPT RPS27A
5 ubiquitin protein ligase binding GO:0031625 9.55 ATXN3 HSP90AA1 PML RPS27A SUMO1
6 syntaxin-1 binding GO:0017075 9.49 NSF STXBP1
7 ATPase activity, coupled GO:0042623 9.48 HSP90AA1 NSF
8 tau protein binding GO:0048156 9.46 HSP90AA1 SNCA
9 phospholipase binding GO:0043274 9.43 SNCA STXBP1
10 protein tag GO:0031386 9.4 RPS27A SUMO1
11 SUMO transferase activity GO:0019789 8.8 HDAC4 PML SUMO1
12 protein binding GO:0005515 10.17 ABT1 APBA1 ATXN1 ATXN3 DNM1 HDAC4

Sources for Neuronal Intranuclear Inclusion Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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