MCID: NRN008
MIFTS: 41

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 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


Summaries for Neuronal Intranuclear Inclusion Disease

OMIM : 54
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)

MalaCards based summary : Neuronal Intranuclear Inclusion Disease, also known as neuronal intranuclear hyaline inclusion disease, is related to neuronitis and sparc-related osteogenesis imperfecta, and has symptoms including scoliosis, optic atrophy and nystagmus. 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, skin and cerebellum, 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

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

(show all 37)
id Related Disease Score Top Affiliating Genes
1 neuronitis 10.6
2 sparc-related osteogenesis imperfecta 10.5 MAPT SNCA
3 riedel's fibrosing thyroiditis 10.4 MAPT SNCA
4 seow najjar syndrome 10.3 MAPT RPS27A
5 syringohydromyelia 10.3 ATXN1 ATXN3
6 piebald trait, kit-related 10.2 MAPT SNCA
7 ceroid lipofuscinosis, neuronal, 11 10.2 MAPT RPS27A
8 sebaceous gland disease 10.2 RPS27A SNCA
9 atrioventricular septal defect 5 10.1 MAPT SNCA
10 hyperekplexia, hereditary 1, autosomal dominant or recessive 10.1 MAPT RPS27A SNCA
11 mast syndrome 10.1 MAPT RPS27A SNCA
12 supranuclear palsy, progressive atypical 10.1 MAPT RPS27A SNCA
13 adrenal gland pheochromocytoma 10.0 MAPT RPS27A SNCA
14 parkinson disease 1 10.0 MAPT RPS27A SNCA
15 cardiomyopathy, dilated, 1u 10.0 MAPT RPS27A SNCA
16 hypospadias 1, x-linked 10.0 ATXN1 ATXN3 HSP90AA1
17 prostate carcinoma in situ 10.0 ATXN3 MAPT SNCA
18 hereditary spastic paraplegia 10.0 ATXN1 ATXN3
19 hepatic angiomyolipoma 10.0 ATXN3 MAPT SNCA
20 pick disease 9.9 MAPT RPS27A SNCA
21 neuropathy 9.8
22 cerebellar degeneration 9.8
23 drug induced dyskinesia 9.8
24 cardiomyopathy 9.8
25 ataxia 9.8
26 tremor 9.8
27 cerebellar ataxia 9.8
28 autonomic neuropathy 9.8
29 transient global amnesia 9.8
30 intestinal pseudo-obstruction 9.8
31 dystonia 9.8
32 mucopolysaccharidosis iii 9.8 MAPT RPS27A SNCA
33 cough headache 9.7 MAPT RPS27A
34 parietal foramina 3 9.7 ATXN1 MAPT RPS27A SNCA
35 parkinson disease, late-onset 9.6 ATXN3 MAPT RPS27A SNCA
36 proteus syndrome, somatic 9.6 ATXN1 ATXN3 RPS27A SNCA
37 basilar impression, primary 5.4 ABT1 APBA1 ATXN1 ATXN3 DNM1 HDAC4

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 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
2 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
3 nystagmus 56 32 frequent (33%) Frequent (79-30%) HP:0000639
4 dysarthria 56 32 hallmark (90%) Very frequent (99-80%) HP:0001260
5 ataxia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001251
6 hyperreflexia 56 32 frequent (33%) Frequent (79-30%) HP:0001347
7 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
8 hypertonia 56 32 frequent (33%) Frequent (79-30%) HP:0001276
9 spina bifida occulta 56 32 frequent (33%) Frequent (79-30%) HP:0003298
10 dementia 56 32 frequent (33%) Frequent (79-30%) HP:0000726
11 ophthalmoplegia 56 32 frequent (33%) Frequent (79-30%) HP:0000602
12 eeg abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0002353
13 behavioral abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0000708
14 emg abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0003457
15 abnormality of movement 56 32 hallmark (90%) Very frequent (99-80%) HP:0100022
16 abnormal form of the vertebral bodies 56 32 frequent (33%) Frequent (79-30%) HP:0003312
17 abnormality of the pharynx 56 32 occasional (7.5%) Occasional (29-5%) HP:0000600
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, Cerebellum

Publications for Neuronal Intranuclear Inclusion Disease

Articles related to Neuronal Intranuclear Inclusion Disease:

(show all 36)
id Title Authors Year
1
MR Imaging Features of the Cerebellum in Adult-Onset Neuronal Intranuclear Inclusion Disease: 8 Cases. ( 28818825 )
2017
2
Over 10a88years MRI observation of a patient with neuronal intranuclear inclusion disease. ( 28237949 )
2017
3
Adult-onset neuronal intranuclear inclusion disease presented transient global amnesia-a case report. ( 28552870 )
2017
4
A Case of Juvenile Onset Neuronal Intranuclear Inclusion Disease With a Negative Antemortem Skin Biopsy. ( 28853324 )
2017
5
Neuronal intranuclear inclusion disease with leukoencephalopathy and light motor-sensory and autonomic neuropathy diagnosed by skin biopsy. ( 27538646 )
2016
6
Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. ( 27797808 )
2016
7
Sporadic adult-onset neuronal intranuclear inclusion disease with the main presentation of repeated cerebellar ataxia: a case study. ( 27181748 )
2016
8
Pathological background of subcortical hyperintensities on diffusion-weighted images in a case of neuronal intranuclear inclusion disease. ( 27719745 )
2016
9
Memory Loss and Frontal Cognitive Dysfunction in a Patient with Adult-onset Neuronal Intranuclear Inclusion Disease. ( 27523009 )
2016
10
Optineurin immunoreactivity in neuronal and glial intranuclear inclusions in adult-onset neuronal intranuclear inclusion disease. ( 25232514 )
2014
11
Neuronal intranuclear inclusion disease presenting with resting tremor. ( 24987362 )
2014
12
Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy. ( 24039026 )
2013
13
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease. ( 21411744 )
2011
14
Neuronal intranuclear inclusion disease: no longer a pain in the butt. ( 21411743 )
2011
15
Neuronal Intranuclear Inclusion Disease presenting as juvenile Parkinsonism. ( 20437931 )
2010
16
Neuronal intranuclear inclusion disease: two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia. ( 20629123 )
2010
17
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
18
SUMOylation substrates in neuronal intranuclear inclusion disease. ( 16409557 )
2006
19
Neuronal intranuclear inclusion disease presenting as chronic intestinal pseudo-obstruction in the neonatal period in the absence of neurologic symptoms. ( 16540803 )
2006
20
Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies. ( 15966005 )
2005
21
Neuronal intranuclear inclusion disease without polyglutamine inclusions in a child. ( 15977647 )
2005
22
Neuronal intranuclear inclusion disease in a horse. ( 15971054 )
2005
23
Influences of intranuclear inclusion on nuclear size - morphometric study on pontine neurons of neuronal intranuclear inclusion disease cases. ( 12536220 )
2003
24
SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease. ( 14637113 )
2003
25
Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration. ( 12164731 )
2002
26
Neuronal intranuclear inclusion disease and juvenile parkinsonism. ( 11009211 )
2000
27
Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease. ( 10443897 )
1999
28
Neuronal intranuclear inclusion disease: neuropathologic study of a case. ( 9760997 )
1998
29
Polyglutamine-containing aggregates in neuronal intranuclear inclusion disease. ( 9525376 )
1998
30
Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions. ( 9804114 )
1998
31
Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case. ( 8787158 )
1996
32
Cardiomyopathy and myocyte intranuclear inclusions in neuronal intranuclear inclusion disease: a case report. ( 1649120 )
1991
33
Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy. ( 2405768 )
1990
34
Neuronal intranuclear inclusion disease. Clinical ophthalmological features and ophthalmic pathology. ( 3028034 )
1986
35
Neuronal intranuclear inclusion disease in two adult siblings. ( 2983603 )
1985
36
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 cytosol GO:0005829 9.9 APBA1 ATXN1 ATXN3 HDAC4 HSP90AA1 MAPT
2 cytoplasm GO:0005737 9.77 APBA1 ATXN1 ATXN3 DNM1 HDAC4 HSP90AA1
3 nucleolus GO:0005730 9.73 ABT1 ATXN1 ATXN3 PML RPS27A SUMO1
4 synaptic vesicle GO:0008021 9.61 APBA1 DNM1 SNCA
5 nuclear matrix GO:0016363 9.58 ATXN1 ATXN3 PML
6 heterochromatin GO:0000792 9.48 PML SUMO1
7 nuclear inclusion body GO:0042405 9.37 ATXN1 ATXN3
8 myelin sheath GO:0043209 9.02 DNM1 HSP90AA1 NSF RPS27A STXBP1
9 nucleoplasm GO:0005654 10.06 ATXN1 ATXN3 HDAC4 HSP90AA1 PML RPS27A
10 nucleus GO:0005634 10.06 ABT1 APBA1 ATXN1 ATXN3 HDAC4 HSP90AA1

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

(show all 11)
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 9.49 HDAC4 SNCA
3 global genome nucleotide-excision repair GO:0070911 9.48 RPS27A SUMO1
4 glutamate secretion GO:0014047 9.43 APBA1 STXBP1
5 microglial cell activation GO:0001774 9.37 MAPT SNCA
6 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.33 MAPT PML SNCA
7 positive regulation of receptor recycling GO:0001921 9.32 NSF SNCA
8 supramolecular fiber organization GO:0097435 9.26 MAPT SNCA
9 positive regulation of neuron death GO:1901216 9.16 MAPT
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:

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 9.67 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 identical protein binding GO:0042802 9.17 ATXN1 ATXN3 DNM1 HSP90AA1 MAPT SNCA
7 phospholipase binding GO:0043274 8.96 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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