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 57 53 59 55 73
Niid 57 53
Neuronal Intranuclear Hyaline Inclusion Disease 53

Characteristics:

Orphanet epidemiological data:

59
neuronal intranuclear inclusion disease
Age of onset: All ages;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 603472
Orphanet 59 ORPHA2289
MESH via Orphanet 45 C537395
UMLS via Orphanet 74 C1863843
ICD10 via Orphanet 34 G31.0
UMLS 73 C1863843

Summaries for Neuronal Intranuclear Inclusion Disease

NIH Rare Diseases : 53 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 neuronitis. 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 abnormality of the pharynx and ophthalmoplegia

OMIM : 57 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 32)
# Related Disease Score Top Affiliating Genes
1 aceruloplasminemia 29.2 ATXN1 ATXN3 DNM1 SNCA
2 neuronitis 10.7
3 parkinson disease 3, autosomal dominant 10.5 MAPT SNCA
4 postencephalitic parkinson disease 10.3 MAPT SNCA
5 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.3 MAPT RPS27A
6 spinocerebellar degeneration 10.2 ATXN1 ATXN3
7 semantic dementia 10.1 MAPT RPS27A
8 multiple system atrophy 1 10.1 ATXN1 MAPT SNCA
9 rem sleep behavior disorder 10.1 RPS27A SNCA
10 undetermined early-onset epileptic encephalopathy 10.0 DNM1 STXBP1
11 leukoencephalopathy, hereditary diffuse, with spheroids 10.0 MAPT RPS27A SNCA
12 central nervous system disease 10.0 ATXN3 MAPT SNCA
13 pick disease of brain 10.0 MAPT RPS27A SNCA
14 supranuclear palsy, progressive, 1 10.0 MAPT RPS27A SNCA
15 nervous system disease 10.0 ATXN3 MAPT SNCA
16 dementia, lewy body 10.0 MAPT RPS27A SNCA
17 spinal and bulbar muscular atrophy, x-linked 1 9.9 ATXN1 ATXN3 HSP90AA1
18 ataxia-oculomotor apraxia 3 9.9
19 autonomic neuropathy 9.9
20 transient global amnesia 9.9
21 intestinal pseudo-obstruction 9.9
22 dystonia 9.9
23 neuropathy 9.9
24 cerebellar degeneration 9.9
25 drug induced dyskinesia 9.9
26 tremor 9.9
27 autosomal dominant cerebellar ataxia 9.9 ATXN1 ATXN3 SNCA
28 motor neuron disease 9.8 MAPT RPS27A SNCA
29 frontotemporal dementia 9.6 MAPT RPS27A SNCA
30 corticobasal degeneration 9.6 MAPT RPS27A
31 machado-joseph disease 9.4 ATXN1 ATXN3 RPS27A SNCA
32 parkinson disease, late-onset 9.3 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:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the pharynx 59 32 occasional (7.5%) Occasional (29-5%) HP:0000600
2 ophthalmoplegia 59 32 frequent (33%) Frequent (79-30%) HP:0000602
3 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
4 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
5 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
6 dementia 59 32 frequent (33%) Frequent (79-30%) HP:0000726
7 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
8 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
9 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
10 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
11 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
12 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
13 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
14 spina bifida occulta 59 32 frequent (33%) Frequent (79-30%) HP:0003298
15 abnormal form of the vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003312
16 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
17 neurological speech impairment 59 Very frequent (99-80%)
18 abnormality of movement 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Neuronal Intranuclear Inclusion Disease:

46
# 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 SNCA STXBP1 SUMO1 APBA1 ATXN1 DNM1
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:

41
Brain, Skin, Cerebellum

Publications for Neuronal Intranuclear Inclusion Disease

Articles related to Neuronal Intranuclear Inclusion Disease:

(show all 41)
# Title Authors Year
1
A case of neuronal intranuclear inclusion disease associated with lupus nephritis-like nephropathy. ( 29430526 )
2018
2
Disappearance of MRI imaging signals in a patient with neuronal intranuclear inclusion disease. ( 29626999 )
2018
3
Neurologic attack and dynamic perfusion abnormality in neuronal intranuclear inclusion disease. ( 29431160 )
2017
4
A Case of Juvenile Onset Neuronal Intranuclear Inclusion Disease With a Negative Antemortem Skin Biopsy. ( 28853324 )
2017
5
Non-lesional skin biopsy for a diagnosis of neuronal intranuclear inclusion disease. ( 29083045 )
2017
6
Case of a 78-year-old woman with a neuronal intranuclear inclusion disease. ( 29265760 )
2017
7
MR Imaging Features of the Cerebellum in Adult-Onset Neuronal Intranuclear Inclusion Disease: 8 Cases. ( 28818825 )
2017
8
Over 10a88years MRI observation of a patient with neuronal intranuclear inclusion disease. ( 28237949 )
2017
9
Adult-onset neuronal intranuclear inclusion disease presented transient global amnesia-a case report. ( 28552870 )
2017
10
Sporadic adult-onset neuronal intranuclear inclusion disease with the main presentation of repeated cerebellar ataxia: a case study. ( 27181748 )
2016
11
Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. ( 27797808 )
2016
12
Pathological background of subcortical hyperintensities on diffusion-weighted images in a case of neuronal intranuclear inclusion disease. ( 27719745 )
2016
13
Memory Loss and Frontal Cognitive Dysfunction in a Patient with Adult-onset Neuronal Intranuclear Inclusion Disease. ( 27523009 )
2016
14
Neuronal intranuclear inclusion disease with leukoencephalopathy and light motor-sensory and autonomic neuropathy diagnosed by skin biopsy. ( 27538646 )
2016
15
Neuronal intranuclear inclusion disease presenting with resting tremor. ( 24987362 )
2014
16
Optineurin immunoreactivity in neuronal and glial intranuclear inclusions in adult-onset neuronal intranuclear inclusion disease. ( 25232514 )
2014
17
Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy. ( 24039026 )
2013
18
Neuronal intranuclear inclusion disease: no longer a pain in the butt. ( 21411743 )
2011
19
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease. ( 21411744 )
2011
20
Neuronal Intranuclear Inclusion Disease presenting as juvenile Parkinsonism. ( 20437931 )
2010
21
Neuronal intranuclear inclusion disease: two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia. ( 20629123 )
2010
22
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
23
Neuronal intranuclear inclusion disease presenting as chronic intestinal pseudo-obstruction in the neonatal period in the absence of neurologic symptoms. ( 16540803 )
2006
24
SUMOylation substrates in neuronal intranuclear inclusion disease. ( 16409557 )
2006
25
Neuronal intranuclear inclusion disease in a horse. ( 15971054 )
2005
26
Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies. ( 15966005 )
2005
27
Neuronal intranuclear inclusion disease without polyglutamine inclusions in a child. ( 15977647 )
2005
28
Influences of intranuclear inclusion on nuclear size - morphometric study on pontine neurons of neuronal intranuclear inclusion disease cases. ( 12536220 )
2003
29
SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease. ( 14637113 )
2003
30
Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration. ( 12164731 )
2002
31
Neuronal intranuclear inclusion disease and juvenile parkinsonism. ( 11009211 )
2000
32
Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease. ( 10443897 )
1999
33
Polyglutamine-containing aggregates in neuronal intranuclear inclusion disease. ( 9525376 )
1998
34
Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions. ( 9804114 )
1998
35
Neuronal intranuclear inclusion disease: neuropathologic study of a case. ( 9760997 )
1998
36
Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case. ( 8787158 )
1996
37
Cardiomyopathy and myocyte intranuclear inclusions in neuronal intranuclear inclusion disease: a case report. ( 1649120 )
1991
38
Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy. ( 2405768 )
1990
39
Neuronal intranuclear inclusion disease. Clinical ophthalmological features and ophthalmic pathology. ( 3028034 )
1986
40
Neuronal intranuclear inclusion disease in two adult siblings. ( 2983603 )
1985
41
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

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 cytoplasm GO:0005737 9.97 APBA1 ATXN1 ATXN3 DNM1 HDAC4 HSP90AA1
2 synapse GO:0045202 9.84 APBA1 DNM1 SNCA SUMO1
3 nucleolus GO:0005730 9.8 ABT1 ATXN1 ATXN3 PML RPS27A SUMO1
4 nucleus GO:0005634 9.77 ABT1 APBA1 ATXN1 ATXN3 DNM1 HDAC4
5 axon GO:0030424 9.76 DNM1 MAPT SNCA STXBP1
6 dendritic spine GO:0043197 9.69 APBA1 DNM1 MAPT
7 synaptic vesicle GO:0008021 9.65 APBA1 DNM1 SNCA
8 nuclear matrix GO:0016363 9.61 ATXN1 ATXN3 PML
9 heterochromatin GO:0000792 9.52 PML SUMO1
10 nuclear inclusion body GO:0042405 9.4 ATXN1 ATXN3
11 myelin sheath GO:0043209 9.02 DNM1 HSP90AA1 NSF RPS27A STXBP1
12 plasma membrane GO:0005886 10.19 APBA1 ATXN3 DNM1 HSP90AA1 MAPT NSF
13 nucleoplasm GO:0005654 10.02 ATXN1 ATXN3 DNM1 HDAC4 HSP90AA1 PML
14 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 cellular response to heat GO:0034605 9.13 ATXN3 MAPT SUMO1
11 PML body organization GO:0030578 8.62 PML SUMO1

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.7 ATXN1 DNM1 HDAC4 HSP90AA1 MAPT SNCA
2 protein C-terminus binding GO:0008022 9.65 ATXN1 DNM1 SUMO1
3 protein kinase binding GO:0019901 9.65 DNM1 HDAC4 MAPT NSF STXBP1
4 syntaxin-1 binding GO:0017075 9.46 NSF STXBP1
5 tau protein binding GO:0048156 9.43 HSP90AA1 SNCA
6 protein tag GO:0031386 9.4 RPS27A SUMO1
7 phospholipase binding GO:0043274 9.37 SNCA STXBP1
8 ubiquitin protein ligase binding GO:0031625 9.35 ATXN3 HSP90AA1 PML RPS27A SUMO1
9 RNA binding GO:0003723 9.23 ABT1 ATXN1 DNM1 HSP90AA1 MAPT RPS27A
10 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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