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

Summaries for Neuronal Intranuclear Inclusion Disease

Sources:
⁴²NIH Rare Diseases, ⁴⁶OMIM, ³²MalaCards
See all sources

OMIM:⁴⁶ Neuronal intranuclear inclusion disease (NIID) is characterized pathologically by eosinophilic intranuclear inclusions...603472 more...

MalaCards based summary: Neuronal Intranuclear Inclusion Disease, also known as neuronal intranuclear hyaline inclusion disease, is related to neuronitis and machado-joseph disease, and has symptoms including neurological speech impairment, incoordination and amyotrophy. An important gene associated with Neuronal Intranuclear Inclusion Disease is RPS27A (ribosomal protein S27a), and among its related pathways are Proteolysis Putative SUMO 1 pathway and Sumoylation by RanBP2 regulates transcriptional repression. The compounds pic 1 and thioflavin have been mentioned in the context of this disorder. Affiliated tissues include brain and skin, and related mouse phenotypes are no phenotypic analysis and behavior/neurological.

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

Aliases & Classifications for Neuronal Intranuclear Inclusion Disease

Sources:
⁴²NIH Rare Diseases, ⁴⁴Novoseek, ⁴⁸Orphanet, ⁴⁶OMIM, ⁶¹UMLS, ³⁵MESH via Orphanet, ²⁷ICD10 via Orphanet, ⁶²UMLS via Orphanet
See all sources

Neuronal Intranuclear Inclusion Disease, Aliases & Descriptions:

Name: Neuronal Intranuclear Inclusion Disease ⁴² ⁴⁴ ⁴⁸ ⁴⁶ ⁶¹

Neuronal Intranuclear Hyaline Inclusion Disease ⁴²

Niid ⁴²

Classifications:

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

ICD10: ²⁷

Diseases of the nervous system

Other degenerative diseases of the nervous system

Other degenerative diseases of nervous system, not elsewhere classified

Circumscribed brain atrophy

Orphanet: ⁴⁸

Rare neurological diseases

Characteristics (Orphanet epidemiological data):

⁴⁸

neuronal intranuclear inclusion disease:
Age of onset: Variable

External Ids:

OMIM⁴⁶ 603472

MESH via Orphanet³⁵ C537395

ICD10 via Orphanet²⁷ G31.0

UMLS via Orphanet⁶² C1863843

Related Diseases for Neuronal Intranuclear Inclusion Disease

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
See all sources

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

(show all 50)

id	Related Disease	Score	Top Affiliating Genes
1	neuronitis	11.0
2	machado-joseph disease	10.5	ATXN3
3	rem sleep behavior disorder	10.5	SNCA
4	autonomic neuropathy	10.4
5	neuropathy	10.4
6	neuroaxonal dystrophy	10.4	SNCA, RPS27A
7	striatonigral degeneration	10.4	SNCA, RPS27A
8	progressive supranuclear palsy	10.3	MAPT
9	primary progressive aphasia	10.3	MAPT, RPS27A
10	bloom syndrome	10.3	SUMO1, PML
11	dysphagia	10.3	ATXN3, ATXN1
12	dentatorubral-pallidoluysian atrophy	10.3	ATXN3, ATXN1
13	inclusion body myositis	10.3	MAPT, RPS27A
14	huntington's disease	10.3	ATXN3, ATXN1
15	semantic dementia	10.3	RPS27A, MAPT
16	dystonia	10.3
17	intestinal pseudo-obstruction	10.3
18	cerebellar degeneration	10.3
19	drug induced dyskinesia	10.3
20	tremor	10.3
21	olivopontocerebellar atrophy	10.3	ATXN1, ATXN3
22	hereditary ataxia	10.2	ATXN1, ATXN3
23	spinocerebellar ataxia type 12	10.2	ATXN1, ATXN3
24	lateral sclerosis	10.2	MAPT, SNCA
25	parkinson disease type 3	10.2	SNCA, MAPT
26	niemann-pick disease type c1	10.2	MAPT, SNCA
27	spinocerebellar degeneration	10.2	ATXN1, ATXN3, RPS27A
28	spinocerebellar ataxia type 17	10.2	ATXN1, ATXN3, ABT1
29	friedreich ataxia	10.2	ATXN3, ATXN1
30	lewy body dementia	10.2	MAPT, SNCA
31	amyloid tumor	10.2	RPS27A, MAPT
32	spinocerebellar ataxia	10.2	ATXN3, ATXN1
33	vascular dementia	10.2	RPS27A, MAPT, SNCA
34	tauopathy	10.2	SNCA, RPS27A, MAPT
35	creutzfeldt-jakob disease	10.1	SNCA, RPS27A, MAPT
36	pick's disease	10.1	RPS27A, SNCA, MAPT
37	movement disease	10.1	RPS27A, MAPT, SNCA
38	frontotemporal dementia	10.1	MAPT, SNCA, RPS27A
39	motor neuron disease	10.1	RPS27A, MAPT, SNCA
40	myositis	10.1	RPS27A, SNCA, MAPT
41	amyloidosis	10.1	RPS27A, MAPT, SNCA
42	dementia	10.1	MAPT, RPS27A, SNCA
43	amyotrophic lateral sclerosis type 14	10.1	RPS27A, MAPT, SNCA
44	memory impairment	10.0	MAPT, SNCA
45	parkinson's disease	9.8	MAPT, RPS27A, SNCA
46	viral infectious disease	9.8	SNCA, SUMO1, HSP90AA1, PML
47	prion disease	9.8	ATXN3, MAPT, RPS27A, APBA1, SNCA
48	multiple system atrophy	9.8	ATXN3, MAPT, SNCA, RPS27A, ATXN1
49	alzheimer's disease	9.8	SNCA, MAPT, RPS27A, APBA1
50	breast cancer	9.5	PML, MAPT, RPS27A, HSP90AA1, SNCA

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

Symptoms for Neuronal Intranuclear Inclusion Disease

Sources:
⁴⁶OMIM, ⁵⁸The Human Phenotype Ontology, ⁴⁸Orphanet
See all sources

Clinical features from OMIM:

603472

Symptoms:

⁴⁸ (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	neurological speech impairment	hallmark (90%)	HP:0002167
2	incoordination	hallmark (90%)	HP:0002311
3	amyotrophy	hallmark (90%)	HP:0003202
4	emg abnormality	hallmark (90%)	HP:0003457
5	abnormality of movement	hallmark (90%)	HP:0100022
6	ophthalmoparesis	typical (50%)	HP:0000597
7	nystagmus	typical (50%)	HP:0000639
8	behavioral abnormality	typical (50%)	HP:0000708
9	seizures	typical (50%)	HP:0001250
10	hypertonia	typical (50%)	HP:0001276
11	hyperreflexia	typical (50%)	HP:0001347
12	eeg abnormality	typical (50%)	HP:0002353
13	developmental regression	typical (50%)	HP:0002376
14	scoliosis	typical (50%)	HP:0002650
15	spina bifida occulta	typical (50%)	HP:0003298
16	abnormal form of the vertebral bodies	typical (50%)	HP:0003312
17	abnormality of the pharynx	occasional (7.5%)	HP:0000600
18	optic atrophy	occasional (7.5%)	HP:0000648

Drugs & Therapeutics for Neuronal Intranuclear Inclusion Disease

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶¹UMLS, ⁴⁰NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Neuronal Intranuclear Inclusion Disease

Search NIH Clinical Center 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, Skin

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	8.5	MAPT, SNCA, APBA1, PML, ATXN3
2	behavior/neurological phenotype	MP:0005386	7.3	HDAC4, ATXN1, ATXN3, APBA1, STXBP1, DNM1
3	nervous system phenotype	MP:0003631	7.1	HDAC4, ATXN1, ATXN3, APBA1, STXBP1, DNM1
4	mortality/aging	MP:0010768	6.7	MAPT, HDAC4, ATXN1, PML, HSP90AA1, APBA1

Publications for Neuronal Intranuclear Inclusion Disease

Sources:
⁵¹PubMed
See all sources

Articles related to Neuronal Intranuclear Inclusion Disease:

(show all 27)

id	Title	Authors	Year
1	Optineurin immunoreactivity in neuronal and glial intranuclear inclusions in adult-onset neuronal intranuclear inclusion disease. (25232514)	Nakamura M.... Dickson D.W.	2014
2	Neuronal intranuclear inclusion disease presenting with resting tremor. (24987362)	Kitagawa N.... Sakurai M.	2014
3	Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy. (24039026)	Sone J.... Sobue G.	2013
4	Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease. (21411744)	Sone J.... Sobue G.	2011
5	Neuronal intranuclear inclusion disease: no longer a pain in the butt. (21411743)	Josephs K.A.	2011
6	Neuronal Intranuclear Inclusion Disease presenting as juvenile Parkinsonism. (20437931)	Wiltshire K.M.... Suchowersky O.	2010
7	Neuronal intranuclear inclusion disease: two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia. (20629123)	Lai S.C.... Lu C.S.	2010
8	NSF, Unc-18-1, dynamin-1 and HSP90 are inclusion body components in neuronal intranuclear inclusion disease identified by anti-SUMO-1-immunocapture. (18836734)	Pountney D.L.... Gai W.P.	2008
9	Neuronal intranuclear inclusion disease presenting as chronic intestinal pseudo-obstruction in the neonatal period in the absence of neurologic symptoms. (16540803)	El-Rifai N.... Jaubert F.	2006
10	SUMOylation substrates in neuronal intranuclear inclusion disease. (16409557)	Takahashi-Fujigasaki J.... Fujigasaki H.	2006
11	Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies. (15966005)	Paviour D.C.... Lees A.J.	2005
12	Neuronal intranuclear inclusion disease without polyglutamine inclusions in a child. (15977647)	McFadden K.... Wiley C.A.	2005
13	Neuronal intranuclear inclusion disease in a horse. (15971054)	Pumarola M.... Ferrer I.	2005
14	SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease. (14637113)	Pountney D.L.... Gai W.P.	2003
15	Influences of intranuclear inclusion on nuclear size - morphometric study on pontine neurons of neuronal intranuclear inclusion disease cases. (12536220)	Uchihara T.... Hattori T.	2003
16	Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration. (12164731)	Zannolli R.... Giannini F.	2002
17	Neuronal intranuclear inclusion disease and juvenile parkinsonism. (11009211)	O'Sullivan J.D.... Lees A.J.	2000
18	Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease. (10443897)	Lieberman A.P.... Fischbeck K.H.	1999
19	Neuronal intranuclear inclusion disease: neuropathologic study of a case. (9760997)	Malandrini A.... Guazzi G.C.	1998
20	Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions. (9804114)	Kimber T.E.... Suthers G.	1998
21	Polyglutamine-containing aggregates in neuronal intranuclear inclusion disease. (9525376)	Lieberman A.P.... Fischbeck K.H.	1998
22	Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case. (8787158)	Malandrini A.... Guazzi G.C.	1996
23	Cardiomyopathy and myocyte intranuclear inclusions in neuronal intranuclear inclusion disease: a case report. (1649120)	Oyer C.E.... Popovic M.	1991
24	Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy. (2405768)	GoutiA"res F.... Aicardi J.	1990
25	Neuronal intranuclear inclusion disease. Clinical ophthalmological features and ophthalmic pathology. (3028034)	Haltia M.... Karli H.	1986
26	Neuronal intranuclear inclusion disease in two adult siblings. (2983603)	Bird T.D.... Schuffler M.D.	1985
27	Neuronal intranuclear inclusion disease in identical twins. (6331275)	Haltia M.... Johnson W.G.	1984

Genes related to Neuronal Intranuclear Inclusion Disease

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals
See all sources

Genes related to Neuronal Intranuclear Inclusion Disease:

(show all 14)

- Elite gene

id	Symbol	Description	Score	Implication
1	RPS27A	ribosomal protein S27a	20.81	GeneCards inferred via : Publications, Disorders (show sections)
2	SUMO1	small ubiquitin-like modifier 1	19.35	GeneCards inferred via : Publications (show sections)
3	PML	promyelocytic leukemia	17.92	GeneCards inferred via : Publications (show sections)
4	ATXN3	ataxin 3	16.49	GeneCards inferred via : Publications (show sections)
5	DNM1	dynamin 1	15.06	GeneCards inferred via : Publications (show sections)
6	STXBP1	syntaxin binding protein 1	13.63	GeneCards inferred via : Publications (show sections)
7	SNCA	synuclein, alpha (non A4 component of amyloid precursor)	12.20	GeneCards inferred via : Publications (show sections)
8	ATXN1	ataxin 1	10.77	GeneCards inferred via : Publications (show sections)
9	HDAC4	histone deacetylase 4	9.35	GeneCards inferred via : Publications (show sections)
10	HSP90AA1	heat shock protein 90kDa alpha (cytosolic), class A member 1	7.92	GeneCards inferred via : Publications (show sections)
11	MAPT	microtubule-associated protein tau	6.49	GeneCards inferred via : Publications (show sections)
12	ABT1	activator of basal transcription 1	5.06	GeneCards inferred via : Publications (show sections)
13	NSF	N-ethylmaleimide-sensitive factor	3.63	GeneCards inferred via : Publications (show sections)
14	APBA1	amyloid beta (A4) precursor protein-binding, family A, member 1	2.20	GeneCards inferred via : Publications (show sections)

Products for genes related to Neuronal Intranuclear Inclusion Disease disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	14	-	14	14
2	Novus Biologicals	12	11	14	-

Variations for Neuronal Intranuclear Inclusion Disease

Expression for genes affiliated with Neuronal Intranuclear Inclusion Disease

Sources:
²BioGPS, ¹⁶Gene 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:
⁴⁹PathCards, ⁵⁹Thomson Reuters, ³⁷NCBI BioSystems Database, ⁵⁴Reactome, ¹³EMD Millipore, ³⁰KEGG, ⁵²QIAGEN, ⁵Cell Signaling Technology
See all sources

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

(show all 12)

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Proteolysis Putative SUMO 1 pathway⁵⁹ Show member pathways DNA damage Role of SUMO in p53 regulation⁵⁹	10.0	PML, SUMO1
2	Sumoylation by RanBP2 regulates transcriptional repression³⁷ Show member pathways miRNA Biogenesis³⁷	9.8	HDAC4, SUMO1
3	Development Glucocorticoid receptor signaling⁵⁹	9.8	HSP90AA1, SUMO1
4	Interferon Signaling⁵⁴ Show member pathways ISG15 antiviral mechanism⁵⁴ Cytokine Signaling in Immune system⁵⁴ Regulation of IFNG signaling⁵⁴ Interferon gamma signaling⁵⁴ Antiviral mechanism by IFN-stimulated genes⁵⁴	9.7	SUMO1, PML, RPS27A
5	EGFR1 Signaling Pathway³⁷	9.5	SNCA, DNM1, STXBP1
6	TNF-alpha/NF-kB Signaling Pathway³⁷ Show member pathways Alternative NF-kappaB pathway³⁷	9.5	PML, SUMO1, HSP90AA1
7	Signaling events mediated by HDAC Class II³⁷	9.4	HDAC4, HSP90AA1, SUMO1
8	Cytoplasmic microtubules¹³ Show member pathways Cytoskeleton remodeling Neurofilaments⁵⁹	9.1	APBA1, STXBP1, MAPT
9	Synaptic vesicle cycle³⁰ Show member pathways Synaptic Vesicle Pathway³⁷	9.0	NSF, STXBP1, DNM1
10	CDK-mediated phosphorylation and removal of Cdc6⁵⁴ Show member pathways APC/C-mediated degradation of cell cycle proteins⁵⁴ Antigen processing-Cross presentation⁵⁴ Autodegradation of the E3 ubiquitin ligase COP1⁵⁴ Destabilization of mRNA by Butyrate Response Factor 1 (BRF1)⁵⁴ SCF-beta-TrCP mediated degradation of Emi1⁵⁴ Regulation of Apoptosis⁵⁴ Regulation of PAK-2p34 activity by PS-GAP/RHG10⁵⁴ Destabilization of mRNA by KSRP⁵⁴ DNA Replication Pre-Initiation⁵⁴ Cross-presentation of particulate exogenous antigens (phagosomes)⁵⁴ Switching of origins to a post-replicative state⁵⁴ Proteasome Degradation³⁷ Regulation of mRNA Stability by Proteins that Bind AU-rich Elements⁵⁴ M/G1 Transition⁵⁴ Conversion from APC/C-Cdc20 to APC/C-Cdh1 in late anaphase⁵⁴ CDC6 association with the ORC-origin complex⁵⁴ S Phase⁵⁴ Degradation of beta-catenin by the destruction complex⁵⁴ Immune response Antigen presentation by MHC class I⁵⁹ Phosphorylation of the APC/C⁵⁴ Regulation of mitotic cell cycle⁵⁴ Cyclin A-Cdk2-associated events at S phase entry⁵⁴ Regulation of APC/C activators between G1/S and early anaphase⁵⁴ APC/C-Cdc20 mediated degradation of mitotic proteins⁵⁴ Proteasome³⁰ Association of licensing factors with the pre-replicative complex⁵⁴ ER-Phagosome pathway⁵⁴ CDT1 association with the CDC6-ORC-origin complex⁵⁴ Cell Cycle Checkpoints⁵⁴ Cyclin E associated events during G1/S transition⁵⁴ Beta-catenin phosphorylation cascade⁵⁴ Parkinson's Disease Pathway⁵² APC/C-Cdh1 mediated degradation of Cdc20 and other APC/C-Cdh1 targeted proteins in late mitosis/early G1⁵⁴ APC/C-Cdc20 mediated degradation of Securin⁵⁴ Activation of APC/C and APC/C-Cdc20 mediated degradation of mitotic proteins⁵⁴ Activation of NF-kappaB in B Cells⁵⁴ Vpu mediated degradation of CD4⁵⁴ Regulation of activated PAK-2p34 by proteasome mediated degradation⁵⁴ p53-Independent G1/S DNA damage checkpoint⁵⁴ Regulation of ornithine decarboxylase (ODC)⁵⁴ Stabilization of mRNA by HuR⁵⁴ WNT5A-dependent internalization of FZD4⁵⁴ Destabilization of mRNA by Tristetraprolin (TTP)⁵⁴ SCF(Skp2)-mediated degradation of p27/p21⁵⁴ Regulation of DNA replication⁵⁴ Role of DCC in regulating apoptosis⁵⁴ Ubiquitin-dependent degradation of Cyclin D⁵⁴ Ubiquitin Mediated Degradation of Phosphorylated Cdc25A⁵⁴ p53-Dependent G1/S DNA damage checkpoint⁵⁴ p53-Dependent G1 DNA Damage Response⁵⁴ Apoptosis⁵⁴ DNA Replication⁵⁴ Vif-mediated degradation of APOBEC3G⁵⁴ Destabilization of mRNA by AUF1 (hnRNP D0)⁵⁴ p53-Independent DNA Damage Response⁵⁴ Cross-presentation of soluble exogenous antigens (endosomes)⁵⁴ Removal of licensing factors from origins⁵⁴ Endosomal/Vacuolar pathway⁵⁴ Stabilization of p53⁵⁴ Assembly of the pre-replicative complex⁵⁴ Ubiquitin-dependent degradation of Cyclin D1⁵⁴ PCP/CE pathway⁵⁴ G1/S DNA Damage Checkpoints⁵⁴ Orc1 removal from chromatin⁵⁴ Asymmetric localization of PCP proteins⁵⁴ Autodegradation of Cdh1 by Cdh1-APC/C⁵⁴ Establishment of Sister Chromatid Cohesion⁵⁴ WNT5A-dependent internalization of FZD2, FZD5 and ROR2⁵⁴ Synthesis of DNA⁵⁴	8.9	MAPT, RPS27A, SNCA, HSP90AA1
11	Cytoskeletal Signaling⁵	8.8	NSF, MAPT, DNM1
12	Neuroscience⁵	8.1	MAPT, SNCA, STXBP1, NSF, ATXN1

Compounds for genes affiliated with Neuronal Intranuclear Inclusion Disease

Sources:
⁴⁴Novoseek, ⁶⁰Tocris Bioscience, ¹²DrugBank, ⁵⁰PharmGKB, ²⁵HMDB, ²⁹IUPHAR
See all sources

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

(show all 35)

id	Compound	Score	Top Affiliating Genes
1	pic 1⁴⁴	10.1	PML, SUMO1, RPS27A
2	thioflavin⁴⁴	9.9	MAPT, SNCA
3	fluorochrome⁴⁴	9.9	RPS27A, MAPT
4	tmao⁴⁴	9.9	MAPT, SNCA
5	radicicol⁴⁴ ⁶⁰ ¹²	11.8	RPS27A, HSP90AA1
6	thioflavine s⁴⁴	9.8	SNCA, RPS27A, MAPT
7	geldanamycin⁴⁴ ⁵⁰ ⁶⁰ ¹²	12.7	RPS27A, SNCA, HSP90AA1
8	arsenite⁴⁴ ²⁵	10.7	RPS27A, HSP90AA1, PML
9	formate⁴⁴	9.7	MAPT, RPS27A, SNCA
10	17-(allylamino)-17-demethoxygeldanamycin⁴⁴	9.7	HSP90AA1, RPS27A
11	silver⁴⁴	9.7	MAPT, RPS27A, SNCA
12	sodium dodecylsulfate⁴⁴	9.6	SNCA, RPS27A, MAPT
13	retinoid⁴⁴	9.6	HDAC4, PML, RPS27A
14	camptothecin⁴⁴ ⁶⁰ ¹²	11.6	RPS27A, SUMO1, HSP90AA1, PML
15	tacrolimus⁴⁴ ⁵⁰ ¹²	11.5	RPS27A, SNCA, HSP90AA1
16	valine⁴⁴	9.5	MAPT, RPS27A, SNCA
17	atpgammas⁴⁴ ²⁹	10.4	NSF, HSP90AA1
18	glycerol⁴⁴ ²⁵ ¹²	11.4	HSP90AA1, RPS27A, MAPT
19	4-hydroxynonenal⁴⁴ ²⁵	10.3	HSP90AA1, SNCA, RPS27A, MAPT
20	lactacystin⁴⁴	9.3	MAPT, RPS27A, SNCA, HSP90AA1
21	mg 132⁴⁴ ⁶⁰	10.3	HSP90AA1, SNCA, RPS27A, MAPT
22	n acetylcysteine⁴⁴	9.2	HSP90AA1, SNCA, RPS27A, MAPT
23	retinoic acid⁴⁴ ²⁵	10.0	MAPT, RPS27A, SUMO1, HSP90AA1, PML
24	arginine⁴⁴	9.0	HSP90AA1, SUMO1, SNCA, RPS27A, MAPT
25	butyrate⁴⁴	8.9	HDAC4, PML, HSP90AA1, RPS27A, MAPT
26	nmda⁴⁴ ²⁹	9.9	MAPT, RPS27A, NSF
27	h2o2⁴⁴	8.8	PML, HSP90AA1, SUMO1, SNCA, RPS27A, MAPT
28	threonine⁴⁴	8.5	MAPT, RPS27A, HSP90AA1, HDAC4
29	lysine⁴⁴	8.5	HDAC4, PML, SUMO1, NSF, SNCA, RPS27A
30	zinc⁴⁴ ²⁵	9.5	HDAC4, ABT1, PML, SUMO1, RPS27A, MAPT
31	testosterone⁴⁴ ⁶⁰ ²⁵ ¹²	11.4	ATXN1, ATXN3, HSP90AA1, SUMO1, SNCA, RPS27A
32	cysteine⁴⁴	7.9	ATXN3, PML, HSP90AA1, NSF, SNCA, RPS27A
33	glutamate⁴⁴	7.5	HDAC4, HSP90AA1, SUMO1, NSF, STXBP1, SNCA
34	alanine⁴⁴	7.4	HDAC4, ABT1, HSP90AA1, NSF, SNCA, RPS27A
35	glutamine⁴⁴	6.7	MAPT, ABT1, ATXN1, ATXN3, PML, HSP90AA1

GO Terms for genes affiliated with Neuronal Intranuclear Inclusion Disease

Sources:
¹⁷Gene 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 matrix	GO:016363	9.6	PML, ATXN3, ATXN1
2	nucleoplasm	GO:005654	9.0	ATXN1, ATXN3, PML, SUMO1, RPS27A
3	plasma membrane	GO:005886	7.2	APBA1, NSF, STXBP1, SNCA, RPS27A, MAPT
4	cytosol	GO:005829	7.2	MAPT, HDAC4, PML, HSP90AA1, NSF, STXBP1
5	cytoplasm	GO:005737	7.0	HDAC4, ATXN1, ATXN3, PML, HSP90AA1, SUMO1
6	nucleus	GO:005634	6.9	HDAC4, ABT1, ATXN1, PML, HSP90AA1, APBA1

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

(show all 12)

id	Name	GO ID	Score	Top Affiliating Genes
1	PML body organization	GO:030578	10.2	SUMO1, PML
2	receptor internalization	GO:031623	9.9	SNCA, DNM1
3	regulation of excitatory postsynaptic membrane potential	GO:060079	9.9	SNCA, ATXN1
4	glutamate secretion	GO:014047	9.8	APBA1, STXBP1
5	adult locomotory behavior	GO:008344	9.8	SNCA, ATXN1
6	response to interleukin-1	GO:070555	9.7	SNCA, HDAC4
7	axon cargo transport	GO:008088	9.7	MAPT, APBA1
8	cytokine-mediated signaling pathway	GO:019221	9.6	PML, SUMO1, RPS27A
9	positive regulation of receptor recycling	GO:001921	9.5	SNCA, NSF
10	negative regulation of transcription, DNA-templated	GO:045892	9.3	SUMO1, PML, ATXN1, HDAC4
11	nervous system development	GO:007399	9.0	APBA1, ATXN3, HDAC4
12	synaptic transmission	GO:007268	8.7	ATXN3, APBA1, NSF, STXBP1

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

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	ubiquitin protein ligase binding	GO:031625	9.7	ATXN3, PML, SUMO1
2	protein kinase binding	GO:019901	9.2	MAPT, STXBP1, HDAC4
3	syntaxin binding	GO:019905	9.0	STXBP1, NSF
4	protein complex binding	GO:032403	8.7	DNM1, NSF, APBA1
5	identical protein binding	GO:042802	8.5	ATXN1, ATXN3, HSP90AA1, STXBP1, DNM1, SNCA
6	poly(A) RNA binding	GO:044822	8.3	ABT1, HSP90AA1, SUMO1, STXBP1, DNM1, RPS27A
7	protein binding	GO:005515	5.4	MAPT, HDAC4, ABT1, ATXN1, ATXN3, PML

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⁶³UniProtKB/Swiss-Prot

⁶⁴Wikipedia

NIID MCID: NRN008 MIFTS: 52	Neuronal Intranuclear Inclusion Disease (NIID) malady Rare diseases, Neuronal diseases categories
36 symptoms, 14 genes, 2 tissues, 50 related diseases, clinical trials Download this MalaCard Expand all tables

Neuronal Intranuclear Inclusion Disease (NIID) malady