NIID
MCID: NRN008
MIFTS: 44

Neuronal Intranuclear Inclusion Disease (NIID) malady

Neuronal diseases category

Summaries for Neuronal Intranuclear Inclusion Disease

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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: Neuronal Intranuclear Inclusion Disease, also known as neuronal intranuclear hyaline inclusion disease, is related to motor neuron disease and neuronitis, and has symptoms including anomaly of the pharynx/pharyngeal anomaly, optic nerve anomaly/optic atrophy/anomaly of the papilla and psychic/behavioural troubles. An important gene associated with Neuronal Intranuclear Inclusion Disease is RPS27A (ribosomal protein S27a), and among its related pathways are Sumoylation by RanBP2 regulates transcriptional repression and EGFR1 Signaling Pathway. The compounds pic 1 and thioflavin have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are no phenotypic analysis and behavior/neurological.

Description from OMIM:46 603472

Aliases & Classifications for Neuronal Intranuclear Inclusion Disease

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42NIH Rare Diseases, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48

Aliases & Descriptions:

neuronal intranuclear inclusion disease 42 44 48 46 60
neuronal intranuclear hyaline inclusion disease 42
niid 42


External Ids:

OMIM46 603472
MESH via Orphanet35 C537395
ICD10 via Orphanet26 G31.0
UMLS via Orphanet61 C1863843

Related Diseases for Neuronal Intranuclear Inclusion Disease

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17GeneCards, 18GeneDecks
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Diseases related to Neuronal Intranuclear Inclusion Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1motor neuron disease30.5MAPT, SNCA, RPS27A
2neuronitis10.9
3rectal disease10.4
4skin disease10.4
5autonomic neuropathy10.4
6neuropathy10.4
7cerebellar disease10.2
8intestinal disease10.2
9intestinal obstruction10.2
10intestinal pseudo-obstruction10.2
11neurologic diseases10.2
12transient cerebral ischemia10.0RPS27A
13rem sleep behavior disorder10.0SNCA
14spinocerebellar ataxia type 310.0ATXN3
15aphasia10.0MAPT
16myotonic dystrophy10.0MAPT
17herpes simplex10.0RPS27A, PML
18neuroaxonal dystrophy10.0SNCA, RPS27A
19spinocerebellar ataxia10.0ATXN1, ATXN3
20striatonigral degeneration10.0SNCA, RPS27A
21huntington's disease10.0ATXN1, ATXN3
22dysphagia10.0ATXN3, ATXN1
23dentatorubral-pallidoluysian atrophy10.0ATXN1, ATXN3
24primary progressive aphasia10.0RPS27A, MAPT
25friedreich ataxia10.0ATXN1, ATXN3
26semantic dementia10.0MAPT, RPS27A
27multiple sclerosis10.0HSP90AA1
28down syndrome10.0MAPT, SNCA
29hereditary ataxia10.0ATXN1, ATXN3
30lewy body dementia10.0SNCA, MAPT
31spinocerebellar degeneration10.0ATXN3, ATXN1, RPS27A
32spinocerebellar ataxia type 1710.0ATXN1, ABT1, ATXN3
33inclusion body myositis10.0RPS27A, MAPT
34olivopontocerebellar atrophy10.0ATXN1, ATXN3
35lateral sclerosis10.0MAPT, SNCA
36parkinson disease type 310.0SNCA, MAPT
37spinocerebellar ataxia type 1210.0ATXN1, ATXN3
38amyotrophic lateral sclerosis10.0RPS27A, SNCA, MAPT
39frontotemporal dementia10.0RPS27A, SNCA, MAPT
40dementia10.0SNCA, MAPT, RPS27A
41parkinson's disease10.0MAPT, SNCA, RPS27A
42progressive supranuclear palsy10.0MAPT, SNCA, RPS27A
43vascular dementia10.0MAPT, RPS27A, SNCA
44schizophrenia10.0ATXN1, SNCA, NSF
45tauopathy10.0SNCA, RPS27A, MAPT
46creutzfeldt-jakob syndrome10.0SNCA, MAPT, RPS27A
47movement disease10.0SNCA, MAPT, RPS27A
48amyloidosis10.0MAPT, SNCA, RPS27A
49niemann-pick disease10.0MAPT, SNCA
50pick's disease10.0RPS27A, MAPT, SNCA

Graphical network of the top 20 diseases related to Neuronal Intranuclear Inclusion Disease:



Diseases related to neuronal intranuclear inclusion disease

Clinical Features for Neuronal Intranuclear Inclusion Disease

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

603472

Symptoms:

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

Drugs & Therapeutics for Neuronal Intranuclear Inclusion Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Neuronal Intranuclear Inclusion Disease

Drug clinical trials:

Search ClinicalTrials for Neuronal Intranuclear Inclusion Disease

Search NIH Clinical Center for Neuronal Intranuclear Inclusion Disease

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Neuronal Intranuclear Inclusion Disease:

32
Brain

Animal Models for Neuronal Intranuclear Inclusion Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Neuronal Intranuclear Inclusion Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.6MAPT, ATXN3, SNCA, APBA1, PML
2MP:00053867.4APBA1, SNCA, ATXN3, ATXN1, HDAC4, MAPT
3MP:00036317.4APBA1, STXBP1, SNCA, ATXN3, ATXN1, HDAC4
4MP:00107686.7SUMO1, PML, HSP90AA1, APBA1, STXBP1, SNCA

Publications for Neuronal Intranuclear Inclusion Disease

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Genetic Variations for Neuronal Intranuclear Inclusion Disease

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Expression for genes affiliated with Neuronal Intranuclear Inclusion Disease

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neuronal Intranuclear Inclusion Disease

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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Sources:
37NCBI BioSystems Database, 12EMD Millipore, 29KEGG, 4Cell Signaling Technology
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Pathways related to Neuronal Intranuclear Inclusion Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8SUMO1, HDAC4
29.6DNM1, SNCA, STXBP1
39.4SUMO1, HDAC4, HSP90AA1
4
Hide members
9.3MAPT, STXBP1, APBA1
5
Hide members
9.1NSF, STXBP1, DNM1
68.1MAPT, ATXN1, SNCA, STXBP1, NSF

Compounds for genes affiliated with Neuronal Intranuclear Inclusion Disease

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Sources:
44Novoseek, 49PharmGKB, 59Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Neuronal Intranuclear Inclusion Disease according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1pic 14410.0PML, RPS27A, SUMO1
2thioflavin4410.0MAPT, SNCA
3tmao4410.0SNCA, MAPT
4fluorochrome449.9MAPT, RPS27A
5thioflavine s449.9RPS27A, SNCA, MAPT
6formate449.8MAPT, SNCA, RPS27A
7silver449.7MAPT, SNCA, RPS27A
8sodium dodecylsulfate449.7RPS27A, SNCA, MAPT
9geldanamycin44 49 59 1112.7RPS27A, HSP90AA1, SNCA
10camptothecin44 59 1111.5SUMO1, HSP90AA1, RPS27A, PML
11arsenite44 2410.5HSP90AA1, RPS27A, PML
12valine449.4RPS27A, SNCA, MAPT
134-hydroxynonenal44 2410.4MAPT, SNCA, HSP90AA1, RPS27A
14glycerol44 11 2411.4MAPT, HSP90AA1, RPS27A
15lactacystin449.4RPS27A, HSP90AA1, SNCA, MAPT
16atpgammas449.3NSF, HSP90AA1
17mg 13244 5910.3RPS27A, HSP90AA1, SNCA, MAPT
18n acetylcysteine449.3MAPT, SNCA, HSP90AA1, RPS27A
19tacrolimus44 49 1111.1SNCA, HSP90AA1, RPS27A
20butyrate449.0PML, RPS27A, HSP90AA1, HDAC4, MAPT
21arginine449.0SUMO1, MAPT, SNCA, HSP90AA1, RPS27A
22retinoic acid44 249.9PML, RPS27A, HSP90AA1, MAPT, SUMO1
23h2o2448.8PML, RPS27A, HSP90AA1, SNCA, MAPT, SUMO1
24zinc44 249.6PML, RPS27A, HDAC4, MAPT, ABT1, SUMO1
25lysine448.5PML, RPS27A, NSF, SNCA, HDAC4, SUMO1
26testosterone44 59 11 2411.3RPS27A, HSP90AA1, SNCA, ATXN3, ATXN1, MAPT
27cysteine447.9PML, RPS27A, HSP90AA1, NSF, SNCA, ATXN3
28glutamate447.7RPS27A, HSP90AA1, NSF, STXBP1, SNCA, HDAC4
29alanine447.6RPS27A, HSP90AA1, NSF, SNCA, HDAC4, MAPT
30glutamine446.6SUMO1, PML, RPS27A, HSP90AA1, NSF, SNCA

GO Terms for genes affiliated with Neuronal Intranuclear Inclusion Disease

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Sources:
16Gene Ontology
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Cellular components related to Neuronal Intranuclear Inclusion Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear inclusion bodyGO:0424059.6ATXN3, ATXN1
2nuclear matrixGO:0163639.0ATXN1, ATXN3, PML
3nucleoplasmGO:0056548.8SUMO1, ATXN1, ATXN3, RPS27A, PML
4cytosolGO:0058297.2MAPT, HDAC4, SNCA, STXBP1, NSF, HSP90AA1

Biological processes related to Neuronal Intranuclear Inclusion Disease according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1PML body organizationGO:03057810.1SUMO1, PML
2histone H3 deacetylationGO:07093210.0HDAC4, ATXN3
3response to interleukin-1GO:0705559.8HDAC4, SNCA
4glutamate secretionGO:0140479.7APBA1, STXBP1
5axon cargo transportGO:0080889.7APBA1, MAPT
6receptor internalizationGO:0316239.6DNM1, SNCA
7regulation of excitatory postsynaptic membrane potentialGO:0600799.5SNCA, ATXN1
8positive regulation of receptor recyclingGO:0019219.5SNCA, NSF
9negative regulation of transcription, DNA-dependentGO:0458929.0SUMO1, HDAC4, ATXN1, PML
10synaptic transmissionGO:0072688.7ATXN3, STXBP1, APBA1, NSF

Molecular functions related to Neuronal Intranuclear Inclusion Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1syntaxin bindingGO:0199059.4STXBP1, NSF
2ubiquitin protein ligase bindingGO:0316259.3PML, ATXN3, SUMO1
3protein kinase bindingGO:0199019.0HSP90AA1, STXBP1, HDAC4, MAPT
4protein complex bindingGO:0324038.8DNM1, APBA1, NSF
5identical protein bindingGO:0428028.4DNM1, ATXN1, ATXN3, SNCA, STXBP1, HSP90AA1
6protein bindingGO:0055155.3SNCA, APBA1, NSF, HSP90AA1, PML, ATXN3

Products for genes affiliated with Neuronal Intranuclear Inclusion Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neuronal Intranuclear Inclusion Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet