MCID: NRN008
MIFTS: 41

Neuronal Intranuclear Inclusion Disease malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Neuronal Intranuclear Inclusion Disease

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Sources:
45NIH Rare Diseases, 47Novoseek, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Neuronal Intranuclear Inclusion Disease:

Name: Neuronal Intranuclear Inclusion Disease 45 47 51 65
Neuronal Intranuclear Hyaline Inclusion Disease 45
 
Niid 45

Characteristics:

Orphanet epidemiological data:

51

Classifications:



External Ids:

Orphanet51 2289
ICD10 via Orphanet28 G31.0
MESH via Orphanet37 C537395
UMLS via Orphanet66 C1863843
UMLS65 C1863843

Summaries for Neuronal Intranuclear Inclusion Disease

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NIH Rare Diseases:45 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

MalaCards based summary: Neuronal Intranuclear Inclusion Disease, also known as neuronal intranuclear hyaline inclusion disease, is related to neuronitis and retinoblastoma fa - friedreich ataxia, and has symptoms including abnormality of movement, emg abnormality and skeletal muscle atrophy. An important gene associated with Neuronal Intranuclear Inclusion Disease is SUMO1 (Small Ubiquitin-Like Modifier 1), and among its related pathways are Proteolysis_Putative ubiquitin pathway and AHR Pathway (Qiagen). Affiliated tissues include kidney, skeletal muscle and brain, and related mouse phenotypes are nervous system and behavior/neurological.

Related Diseases for Neuronal Intranuclear Inclusion Disease

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

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1neuronitis10.7
2retinoblastoma fa - friedreich ataxia10.5MAPT, SNCA
3snrnp200-related retinitis pigmentosa10.5MAPT, SNCA
4estrogen excess10.4MAPT, SNCA
5pde6d-related joubert syndrome10.4MAPT, SNCA
6mast syndrome10.3MAPT, SNCA
7hereditary hemorrhagic telangiectasia10.3ATXN1, ATXN3
8bradyopsia10.3MAPT, RPS27A
9semmekrot haraldsson weemaes syndrome10.3MAPT, RPS27A
10atrioventricular septal defect 510.3MAPT, SNCA
11perry syndrome10.3MAPT, SNCA
12okt4 epitope deficiency10.2ATXN1, ATXN3, PML
13polycystic kidney disease 210.2ATXN1, MAPT, SNCA
14upper lip cancer10.2ATXN3, MAPT, SNCA
15atopic dermatitis10.2ATXN3, MAPT, SNCA
16dubowitz syndrome10.2RPS27A, SNCA
17hypospadias 1, x-linked10.1ATXN1, ATXN3, HSP90AA1
18supranuclear palsy, progressive atypical10.1MAPT, RPS27A, SNCA
19parkinson disease 110.1MAPT, RPS27A, SNCA
20pick disease10.1MAPT, RPS27A, SNCA
21cardiomyopathy, dilated, 1u10.1MAPT, RPS27A, SNCA
22colon kaposi sarcoma10.0MAPT, RPS27A, SNCA
23subcortical arteriosclerotic encephalopathy10.0ATXN1, ATXN3, RPS27A
24mental retardation, autosomal recessive 3210.0ATXN1, ATXN3, RPS27A
25cerebellar ataxia10.0
26intestinal pseudo-obstruction10.0
27dystonia10.0
28cerebellar degeneration10.0
29drug induced dyskinesia10.0
30cardiomyopathy10.0
31ataxia10.0
32tremor10.0
33schistosoma mansoni infection, susceptibility/9.9ATXN1, ATXN3
34mucopolysaccharidosis ih9.7ATXN1, ATXN3, SNCA
35parkinson disease, late-onset9.7ATXN3, MAPT, RPS27A, SNCA
36neuropathy ataxia retinitis pigmentosa syndrome5.7ABT1, 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 for Neuronal Intranuclear Inclusion Disease

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Symptoms:

 51 (show all 18)
  • ataxia/incoordination/trouble of the equilibrium
  • movement disorder
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • abnormal emg/electromyogram/electropmyography
  • nystagmus
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • scoliosis
  • spina bifida occulta
  • abnormal vertebral size/shape
  • eeg anomalies
  • hypertonia/spasticity/rigidity/stiffness
  • hypereflexia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • psychic/psychomotor regression/dementia/intellectual decline
  • psychic/behavioural troubles
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • anomaly of the pharynx/pharyngeal anomaly

HPO human phenotypes related to Neuronal Intranuclear Inclusion Disease:

(show all 18)
id Description Frequency HPO Source Accession
1 abnormality of movement hallmark (90%) HP:0100022
2 emg abnormality hallmark (90%) HP:0003457
3 skeletal muscle atrophy hallmark (90%) HP:0003202
4 incoordination hallmark (90%) HP:0002311
5 neurological speech impairment hallmark (90%) HP:0002167
6 abnormal form of the vertebral bodies typical (50%) HP:0003312
7 spina bifida occulta typical (50%) HP:0003298
8 scoliosis typical (50%) HP:0002650
9 developmental regression typical (50%) HP:0002376
10 eeg abnormality typical (50%) HP:0002353
11 hyperreflexia typical (50%) HP:0001347
12 hypertonia typical (50%) HP:0001276
13 seizures typical (50%) HP:0001250
14 behavioral abnormality typical (50%) HP:0000708
15 nystagmus typical (50%) HP:0000639
16 ophthalmoparesis typical (50%) HP:0000597
17 optic atrophy occasional (7.5%) HP:0000648
18 abnormality of the pharynx occasional (7.5%) HP:0000600

Drugs & Therapeutics for Neuronal Intranuclear Inclusion Disease

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Neuronal Intranuclear Inclusion Disease

Genetic Tests for Neuronal Intranuclear Inclusion Disease

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Anatomical Context for Neuronal Intranuclear Inclusion Disease

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MalaCards organs/tissues related to Neuronal Intranuclear Inclusion Disease:

33
Kidney, Skeletal muscle, Brain, Breast, Colon, T cells, Prostate

Animal Models for Neuronal Intranuclear Inclusion Disease or affiliated genes

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MGI Mouse Phenotypes related to Neuronal Intranuclear Inclusion Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.2APBA1, ATXN1, ATXN3, DNM1, HDAC4, MAPT
2MP:00053866.9APBA1, ATXN1, ATXN3, DNM1, HDAC4, HSP90AA1
3MP:00107686.2APBA1, ATXN1, DNM1, HDAC4, HSP90AA1, MAPT

Publications for Neuronal Intranuclear Inclusion Disease

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Articles related to Neuronal Intranuclear Inclusion Disease:

(show all 28)
idTitleAuthorsYear
1
Sporadic adult-onset neuronal intranuclear inclusion disease with the main presentation of repeated cerebellar ataxia: a case study. (27181748)
2016
2
Optineurin immunoreactivity in neuronal and glial intranuclear inclusions in adult-onset neuronal intranuclear inclusion disease. (25232514)
2014
3
Neuronal intranuclear inclusion disease presenting with resting tremor. (24987362)
2014
4
Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy. (24039026)
2013
5
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease. (21411744)
2011
6
Neuronal intranuclear inclusion disease: no longer a pain in the butt. (21411743)
2011
7
Neuronal Intranuclear Inclusion Disease presenting as juvenile Parkinsonism. (20437931)
2010
8
Neuronal intranuclear inclusion disease: two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia. (20629123)
2010
9
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
10
Neuronal intranuclear inclusion disease presenting as chronic intestinal pseudo-obstruction in the neonatal period in the absence of neurologic symptoms. (16540803)
2006
11
SUMOylation substrates in neuronal intranuclear inclusion disease. (16409557)
2006
12
Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies. (15966005)
2005
13
Neuronal intranuclear inclusion disease without polyglutamine inclusions in a child. (15977647)
2005
14
Neuronal intranuclear inclusion disease in a horse. (15971054)
2005
15
SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease. (14637113)
2003
16
Influences of intranuclear inclusion on nuclear size - morphometric study on pontine neurons of neuronal intranuclear inclusion disease cases. (12536220)
2003
17
Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration. (12164731)
2002
18
Neuronal intranuclear inclusion disease and juvenile parkinsonism. (11009211)
2000
19
Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease. (10443897)
1999
20
Neuronal intranuclear inclusion disease: neuropathologic study of a case. (9760997)
1998
21
Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions. (9804114)
1998
22
Polyglutamine-containing aggregates in neuronal intranuclear inclusion disease. (9525376)
1998
23
Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case. (8787158)
1996
24
Cardiomyopathy and myocyte intranuclear inclusions in neuronal intranuclear inclusion disease: a case report. (1649120)
1991
25
Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy. (2405768)
1990
26
Neuronal intranuclear inclusion disease. Clinical ophthalmological features and ophthalmic pathology. (3028034)
1986
27
Neuronal intranuclear inclusion disease in two adult siblings. (2983603)
1985
28
Neuronal intranuclear inclusion disease in identical twins. (6331275)
1984

Variations for Neuronal Intranuclear Inclusion Disease

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Expression for genes affiliated with Neuronal Intranuclear Inclusion Disease

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

Pathways for genes affiliated with Neuronal Intranuclear Inclusion Disease

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GO Terms for genes affiliated with Neuronal Intranuclear Inclusion Disease

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

idNameGO IDScoreTop Affiliating Genes
1ERBB2 signaling pathwayGO:003812810.0HSP90AA1, RPS27A
2cytokine-mediated signaling pathwayGO:001922110.0PML, RPS27A, SUMO1
3protein stabilizationGO:00508219.8PML, STXBP1, SUMO1
4proteasome-mediated ubiquitin-dependent protein catabolic processGO:00431619.7ATXN3, PML, RPS27A
5nucleotide-excision repairGO:00062899.5ATXN3, RPS27A, SUMO1
6cellular protein metabolic processGO:00442678.8NSF, PML, RPS27A, SNCA, SUMO1

Sources for Neuronal Intranuclear Inclusion Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet