Neuronal Intranuclear Inclusion Disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for Neuronal Intranuclear Inclusion Disease

Sources:
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

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

Classifications:

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

ICD10: ²⁶

Diseases of the nervous system

Other degenerative diseases of the nervous system

Other degenerative diseases of nervous system, not elsewhere classified

Circumscribed brain atrophy

Characteristics (Orphanet epidemiological data):

⁴⁸

neuronal intranuclear inclusion disease:
Age of onset: Variable

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

Sources:
¹⁷GeneCards, ¹⁸GeneDecks
See all sources

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

(show top 50) (show all 57)

id	Related Disease	Score	Top Affiliating Genes
1	motor neuron disease	30.5	MAPT, SNCA, RPS27A
2	neuronitis	10.9
3	rectal disease	10.4
4	skin disease	10.4
5	autonomic neuropathy	10.4
6	neuropathy	10.4
7	cerebellar disease	10.2
8	intestinal disease	10.2
9	intestinal obstruction	10.2
10	intestinal pseudo-obstruction	10.2
11	neurologic diseases	10.2
12	transient cerebral ischemia	10.0	RPS27A
13	rem sleep behavior disorder	10.0	SNCA
14	spinocerebellar ataxia type 3	10.0	ATXN3
15	aphasia	10.0	MAPT
16	myotonic dystrophy	10.0	MAPT
17	herpes simplex	10.0	RPS27A, PML
18	neuroaxonal dystrophy	10.0	SNCA, RPS27A
19	spinocerebellar ataxia	10.0	ATXN1, ATXN3
20	striatonigral degeneration	10.0	SNCA, RPS27A
21	huntington's disease	10.0	ATXN1, ATXN3
22	dysphagia	10.0	ATXN3, ATXN1
23	dentatorubral-pallidoluysian atrophy	10.0	ATXN1, ATXN3
24	primary progressive aphasia	10.0	RPS27A, MAPT
25	friedreich ataxia	10.0	ATXN1, ATXN3
26	semantic dementia	10.0	MAPT, RPS27A
27	multiple sclerosis	10.0	HSP90AA1
28	down syndrome	10.0	MAPT, SNCA
29	hereditary ataxia	10.0	ATXN1, ATXN3
30	lewy body dementia	10.0	SNCA, MAPT
31	spinocerebellar degeneration	10.0	ATXN3, ATXN1, RPS27A
32	spinocerebellar ataxia type 17	10.0	ATXN1, ABT1, ATXN3
33	inclusion body myositis	10.0	RPS27A, MAPT
34	olivopontocerebellar atrophy	10.0	ATXN1, ATXN3
35	lateral sclerosis	10.0	MAPT, SNCA
36	parkinson disease type 3	10.0	SNCA, MAPT
37	spinocerebellar ataxia type 12	10.0	ATXN1, ATXN3
38	amyotrophic lateral sclerosis	10.0	RPS27A, SNCA, MAPT
39	frontotemporal dementia	10.0	RPS27A, SNCA, MAPT
40	dementia	10.0	SNCA, MAPT, RPS27A
41	parkinson's disease	10.0	MAPT, SNCA, RPS27A
42	progressive supranuclear palsy	10.0	MAPT, SNCA, RPS27A
43	vascular dementia	10.0	MAPT, RPS27A, SNCA
44	schizophrenia	10.0	ATXN1, SNCA, NSF
45	tauopathy	10.0	SNCA, RPS27A, MAPT
46	creutzfeldt-jakob syndrome	10.0	SNCA, MAPT, RPS27A
47	movement disease	10.0	SNCA, MAPT, RPS27A
48	amyloidosis	10.0	MAPT, SNCA, RPS27A
49	niemann-pick disease	10.0	MAPT, SNCA
50	pick's disease	10.0	RPS27A, MAPT, SNCA

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

Clinical Features for Neuronal Intranuclear Inclusion Disease

Sources:
⁴⁶OMIM, ⁴⁸Orphanet
See all sources

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

Sources:
⁵CenterWatch, ⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶⁰UMLS, ⁴⁰NDF-RT
See all sources

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

Anatomical Context for Neuronal Intranuclear Inclusion Disease

Sources:
³²MalaCards
See all sources

MalaCards organs/tissues related to Neuronal Intranuclear Inclusion Disease:

³²

Brain

Animal Models for Neuronal Intranuclear Inclusion Disease or affiliated genes

Sources:
³⁶MGI
See all sources

MGI Mouse Phenotypes related to Neuronal Intranuclear Inclusion Disease:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	no phenotypic analysis	MP:0003012	8.6	MAPT, ATXN3, SNCA, APBA1, PML
2	behavior/neurological phenotype	MP:0005386	7.4	APBA1, SNCA, ATXN3, ATXN1, HDAC4, MAPT
3	nervous system phenotype	MP:0003631	7.4	APBA1, STXBP1, SNCA, ATXN3, ATXN1, HDAC4
4	mortality/aging	MP:0010768	6.7	SUMO1, PML, HSP90AA1, APBA1, STXBP1, SNCA

Publications for Neuronal Intranuclear Inclusion Disease

Genes related to Neuronal Intranuclear Inclusion Disease

Sources:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc.
See all sources

Genes related to Neuronal Intranuclear Inclusion Disease:

(show all 14)

id	Symbol	Description	Score	Implication
1	RPS27A	ribosomal protein S27a	20.78	GeneCards inferred : Publications, Disorders (show sections)
2	SUMO1	small ubiquitin-like modifier 1	19.31	GeneCards inferred : Publications, Disorders (show sections)
3	DNM1	dynamin 1	17.89	GeneCards inferred : Publications, Disorders (show sections)
4	STXBP1	syntaxin binding protein 1	16.46	GeneCards inferred : Publications, Disorders (show sections)
5	ATXN3	ataxin 3	15.03	GeneCards inferred : Publications, Disorders (show sections)
6	PML	promyelocytic leukemia	13.60	GeneCards inferred : Publications, Disorders (show sections)
7	SNCA	synuclein, alpha (non A4 component of amyloid precursor)	12.17	GeneCards inferred : Publications, Disorders (show sections)
8	HDAC4	histone deacetylase 4	10.74	GeneCards inferred : Publications, Disorders (show sections)
9	MAPT	microtubule-associated protein tau	9.31	GeneCards inferred : Publications, Disorders (show sections)
10	HSP90AA1	heat shock protein 90kDa alpha (cytosolic), class A member 1	7.89	GeneCards inferred : Publications, Disorders (show sections)
11	ATXN1	ataxin 1	6.46	GeneCards inferred : Publications, Disorders (show sections)
12	ABT1	activator of basal transcription 1	5.03	GeneCards inferred : Publications, Disorders (show sections)
13	NSF	N-ethylmaleimide-sensitive factor	3.60	GeneCards inferred : Publications, Disorders (show sections)
14	APBA1	amyloid beta (A4) precursor protein-binding, family A, member 1	2.17	GeneCards inferred : Publications, Disorders (show sections)

Products for genes related to Neuronal Intranuclear Inclusion Disease disease:

id	Company	Proteins	Lysates	Antibodies
1	Novus Biologicals	12	12	14
2	LSBio	-	-	14

Genetic Variations for Neuronal Intranuclear Inclusion Disease

Expression for genes affiliated with Neuronal Intranuclear Inclusion Disease

Sources:
¹BioGPS, ¹⁵Gene Expression Omnibus DataSets
See all sources

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

Sources:
³⁷NCBI BioSystems Database, ¹²EMD Millipore, ²⁹KEGG, ⁴Cell Signaling Technology
See all sources

Pathways related to Neuronal Intranuclear Inclusion Disease according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Sumoylation by RanBP2 regulates transcriptional repression³⁷	9.8	SUMO1, HDAC4
2	EGFR1 Signaling Pathway³⁷	9.6	DNM1, SNCA, STXBP1
3	Signaling events mediated by HDAC Class II³⁷	9.4	SUMO1, HDAC4, HSP90AA1
4	Cytoskeleton remodeling Neurofilaments¹² Hide members Cytoplasmic microtubules¹²	9.3	MAPT, STXBP1, APBA1
5	Synaptic vesicle cycle²⁹ Hide members Synaptic Vesicle Pathway³⁷	9.1	NSF, STXBP1, DNM1
6	Neuroscience⁴	8.1	MAPT, ATXN1, SNCA, STXBP1, NSF

Compounds for genes affiliated with Neuronal Intranuclear Inclusion Disease

Sources:
⁴⁴Novoseek, ⁴⁹PharmGKB, ⁵⁹Tocris Bioscience, ¹¹DrugBank, ²⁴HMDB
See all sources

Compounds related to Neuronal Intranuclear Inclusion Disease according to GeneCards/GeneDecks:

(show all 30)

id	Compound	Score	Top Affiliating Genes
1	pic 1⁴⁴	10.0	PML, RPS27A, SUMO1
2	thioflavin⁴⁴	10.0	MAPT, SNCA
3	tmao⁴⁴	10.0	SNCA, MAPT
4	fluorochrome⁴⁴	9.9	MAPT, RPS27A
5	thioflavine s⁴⁴	9.9	RPS27A, SNCA, MAPT
6	formate⁴⁴	9.8	MAPT, SNCA, RPS27A
7	silver⁴⁴	9.7	MAPT, SNCA, RPS27A
8	sodium dodecylsulfate⁴⁴	9.7	RPS27A, SNCA, MAPT
9	geldanamycin⁴⁴ ⁴⁹ ⁵⁹ ¹¹	12.7	RPS27A, HSP90AA1, SNCA
10	camptothecin⁴⁴ ⁵⁹ ¹¹	11.5	SUMO1, HSP90AA1, RPS27A, PML
11	arsenite⁴⁴ ²⁴	10.5	HSP90AA1, RPS27A, PML
12	valine⁴⁴	9.4	RPS27A, SNCA, MAPT
13	4-hydroxynonenal⁴⁴ ²⁴	10.4	MAPT, SNCA, HSP90AA1, RPS27A
14	glycerol⁴⁴ ¹¹ ²⁴	11.4	MAPT, HSP90AA1, RPS27A
15	lactacystin⁴⁴	9.4	RPS27A, HSP90AA1, SNCA, MAPT
16	atpgammas⁴⁴	9.3	NSF, HSP90AA1
17	mg 132⁴⁴ ⁵⁹	10.3	RPS27A, HSP90AA1, SNCA, MAPT
18	n acetylcysteine⁴⁴	9.3	MAPT, SNCA, HSP90AA1, RPS27A
19	tacrolimus⁴⁴ ⁴⁹ ¹¹	11.1	SNCA, HSP90AA1, RPS27A
20	butyrate⁴⁴	9.0	PML, RPS27A, HSP90AA1, HDAC4, MAPT
21	arginine⁴⁴	9.0	SUMO1, MAPT, SNCA, HSP90AA1, RPS27A
22	retinoic acid⁴⁴ ²⁴	9.9	PML, RPS27A, HSP90AA1, MAPT, SUMO1
23	h2o2⁴⁴	8.8	PML, RPS27A, HSP90AA1, SNCA, MAPT, SUMO1
24	zinc⁴⁴ ²⁴	9.6	PML, RPS27A, HDAC4, MAPT, ABT1, SUMO1
25	lysine⁴⁴	8.5	PML, RPS27A, NSF, SNCA, HDAC4, SUMO1
26	testosterone⁴⁴ ⁵⁹ ¹¹ ²⁴	11.3	RPS27A, HSP90AA1, SNCA, ATXN3, ATXN1, MAPT
27	cysteine⁴⁴	7.9	PML, RPS27A, HSP90AA1, NSF, SNCA, ATXN3
28	glutamate⁴⁴	7.7	RPS27A, HSP90AA1, NSF, STXBP1, SNCA, HDAC4
29	alanine⁴⁴	7.6	RPS27A, HSP90AA1, NSF, SNCA, HDAC4, MAPT
30	glutamine⁴⁴	6.6	SUMO1, PML, RPS27A, HSP90AA1, NSF, SNCA

GO Terms for genes affiliated with Neuronal Intranuclear Inclusion Disease

Sources:
¹⁶Gene Ontology
See all sources

Cellular components related to Neuronal Intranuclear Inclusion Disease according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	nuclear inclusion body	GO:042405	9.6	ATXN3, ATXN1
2	nuclear matrix	GO:016363	9.0	ATXN1, ATXN3, PML
3	nucleoplasm	GO:005654	8.8	SUMO1, ATXN1, ATXN3, RPS27A, PML
4	cytosol	GO:005829	7.2	MAPT, HDAC4, SNCA, STXBP1, NSF, HSP90AA1

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

(show all 10)

id	Name	GO ID	Score	Top Affiliating Genes
1	PML body organization	GO:030578	10.1	SUMO1, PML
2	histone H3 deacetylation	GO:070932	10.0	HDAC4, ATXN3
3	response to interleukin-1	GO:070555	9.8	HDAC4, SNCA
4	glutamate secretion	GO:014047	9.7	APBA1, STXBP1
5	axon cargo transport	GO:008088	9.7	APBA1, MAPT
6	receptor internalization	GO:031623	9.6	DNM1, SNCA
7	regulation of excitatory postsynaptic membrane potential	GO:060079	9.5	SNCA, ATXN1
8	positive regulation of receptor recycling	GO:001921	9.5	SNCA, NSF
9	negative regulation of transcription, DNA-dependent	GO:045892	9.0	SUMO1, HDAC4, ATXN1, PML
10	synaptic transmission	GO:007268	8.7	ATXN3, STXBP1, APBA1, NSF

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

id	Name	GO ID	Score	Top Affiliating Genes
1	syntaxin binding	GO:019905	9.4	STXBP1, NSF
2	ubiquitin protein ligase binding	GO:031625	9.3	PML, ATXN3, SUMO1
3	protein kinase binding	GO:019901	9.0	HSP90AA1, STXBP1, HDAC4, MAPT
4	protein complex binding	GO:032403	8.8	DNM1, APBA1, NSF
5	identical protein binding	GO:042802	8.4	DNM1, ATXN1, ATXN3, SNCA, STXBP1, HSP90AA1
6	protein binding	GO:005515	5.3	SNCA, APBA1, NSF, HSP90AA1, PML, ATXN3

Products for genes affiliated with Neuronal Intranuclear Inclusion Disease

Antibodies
Proteins
Lysates

Antibodies

Sources for Neuronal Intranuclear Inclusion Disease

¹BioGPS

²BitterDB

³CDC

⁴Cell Signaling Technology

⁵CenterWatch

⁶ClinicalTrials

⁷dbSNP

⁸Disease Ontology

⁹diseasecard

¹⁰DISEASES

¹¹DrugBank

¹²EMD Millipore

¹³ExPASy

¹⁴FMA

¹⁵Gene Expression Omnibus DataSets

¹⁶Gene Ontology

¹⁷GeneCards

¹⁸GeneDecks

¹⁹GeneReviews

²⁰GeneTests

²¹Genetics Home Reference

²²GTR

²³HGMD

²⁴HMDB

²⁵ICD10

²⁶ICD10 via Orphanet

²⁷ICD9CM

²⁸IUPHAR

²⁹KEGG

³⁰LifeMap Discovery™

³¹LifeSpan BioSciences, Inc.

³²MalaCards

³³MedlinePlus

³⁴MeSH

³⁵MESH via Orphanet

³⁶MGI

³⁷NCBI BioSystems Database

³⁸NCBI Bookshelf

³⁹NCIt

⁴⁰NDF-RT

⁴¹NIH Clinical Center

⁴²NIH Rare Diseases

⁴³NINDS

⁴⁴Novoseek

⁴⁵Novus Biologicals

⁴⁶OMIM

⁴⁷OMIM via Orphanet

⁴⁸Orphanet

⁴⁹PharmGKB

⁵⁰PubMed

⁵¹QIAGEN

⁵²R&D Systems

⁵³Reactome

⁵⁴SABiosciences

⁵⁵SinoBiological

⁵⁶SNOMED-CT

⁵⁷SNOMED-CT via Orphanet

⁵⁸Thomson Reuters

⁵⁹Tocris Bioscience

⁶⁰UMLS

⁶¹UMLS via Orphanet

⁶²UniProtKB/Swiss-Prot

⁶³Wikipedia

NIID MCID: NRN008 MIFTS: 44	Neuronal Intranuclear Inclusion Disease (NIID) malady Neuronal diseases category
18 symptoms, 14 genes, 1 tissue, 57 related diseases, clinical trials.

Neuronal Intranuclear Inclusion Disease (NIID) malady