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

Aliases & Classifications for Neuronal Intranuclear Inclusion Disease

Sources:
³¹ICD10 via Orphanet, ⁴⁰MESH via Orphanet, ⁴⁸NIH Rare Diseases, ⁵⁰Novoseek, ⁵²OMIM, ⁵⁴Orphanet, ⁶⁸UMLS, ⁶⁹UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Neuronal Intranuclear Inclusion Disease:

Name: Neuronal Intranuclear Inclusion Disease ⁵² ⁴⁸ ⁵⁴ ⁵⁰ ⁶⁸

Neuronal Intranuclear Hyaline Inclusion Disease ⁴⁸

Niid ⁴⁸

Characteristics:

Orphanet epidemiological data:

⁵⁴

neuronal intranuclear inclusion disease:
Age of onset: All ages

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

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: ⁵⁴

Rare neurological diseases

External Ids:

OMIM⁵² 603472

Orphanet⁵⁴ ORPHA2289

MESH via Orphanet⁴⁰ C537395

UMLS via Orphanet⁶⁹ C1863843

ICD10 via Orphanet³¹ G31.0

Summaries for Neuronal Intranuclear Inclusion Disease

Sources:
³⁶MalaCards, ⁴⁸NIH Rare Diseases, ⁵²OMIM
See all MalaCards sources

OMIM:⁵² 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 suppurative thyroiditis, and has symptoms including neurological speech impairment, incoordination 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 Sumoylation by RanBP2 regulates transcriptional repression and Signaling events mediated by HDAC Class II. Affiliated tissues include brain, skeletal muscle and skin, and related mouse phenotypes are behavior/neurological and nervous system.

NIH Rare Diseases:⁴⁸ 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

Sources:
²⁰GeneAnalytics, ²¹GeneCards
See all MalaCards sources

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

(show all 32)

id	Related Disease	Score	Top Affiliating Genes
1	neuronitis	10.6
2	suppurative thyroiditis	10.2	MAPT, SNCA
3	atrial septal defect 9	10.2	MAPT, SNCA
4	erythematosquamous dermatosis	10.1	RPS27A, SNCA
5	hereditary spastic paraplegia	10.1	ATXN1, ATXN3
6	anti-p200 pemphigoid	10.0	MAPT, RPS27A, SNCA
7	mast syndrome	10.0	MAPT, RPS27A, SNCA
8	meier-gorlin syndrome 5	10.0	MAPT, RPS27A, SNCA
9	adrenal gland pheochromocytoma	10.0	MAPT, RPS27A, SNCA
10	leukemia, acute myeloid	10.0	HSP90AA1, PML, SNCA, SUMO1
11	gingival disease	10.0	MAPT, RPS27A
12	cardiomyopathy, dilated, 1u	10.0	MAPT, RPS27A, SNCA
13	angiomyolipoma	10.0	ATXN3, MAPT, SNCA
14	osteopathia striata with cranial sclerosis	10.0	ATXN1, ATXN3, HSP90AA1
15	pick disease	10.0	MAPT, RPS27A, SNCA
16	chronic intestinal vascular insufficiency	9.9	ATXN3, MAPT, SNCA
17	phka2-related phosphorylase kinase deficiency	9.9	MAPT, SNCA
18	andersen syndrome	9.9	MAPT, RPS27A
19	cerebellar ataxia	9.8
20	autonomic neuropathy	9.8
21	intestinal pseudo-obstruction	9.8
22	dystonia	9.8
23	neuropathy	9.8
24	cerebellar degeneration	9.8
25	drug induced dyskinesia	9.8
26	cardiomyopathy	9.8
27	ataxia	9.8
28	tremor	9.8
29	polycystic kidney disease 2	9.7	ATXN1, MAPT, RPS27A, SNCA
30	mental retardation, autosomal recessive 32	9.6	ATXN1, ATXN3, RPS27A, SNCA
31	parkinson disease, late-onset	9.5	ATXN3, MAPT, RPS27A, SNCA
32	basilar impression, primary	6.0	ABT1, APBA1, ATXN1, ATXN3, DNM1, HDAC4

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

Symptoms & Phenotypes for Neuronal Intranuclear Inclusion Disease

Sources:
⁴¹MGI, ⁵²OMIM, ⁵⁴Orphanet, ⁶⁴The Human Phenotype Ontology
See all MalaCards sources

Clinical features from OMIM:

603472

Human phenotypes related to Neuronal Intranuclear Inclusion Disease:

⁶⁴ ⁵⁴ (show all 22)

id	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	neurological speech impairment⁶⁴ ⁵⁴	hallmark (90%)	Very frequent (99-80%)	HP:0002167
2	incoordination⁶⁴	hallmark (90%)		HP:0002311
3	skeletal muscle atrophy⁶⁴	hallmark (90%)		HP:0003202
4	emg abnormality⁶⁴ ⁵⁴	hallmark (90%)	Very frequent (99-80%)	HP:0003457
5	abnormality of movement⁶⁴ ⁵⁴	hallmark (90%)	Very frequent (99-80%)	HP:0100022
6	ophthalmoparesis⁶⁴	typical (50%)		HP:0000597
7	nystagmus⁶⁴ ⁵⁴	typical (50%)	Frequent (79-30%)	HP:0000639
8	behavioral abnormality⁶⁴ ⁵⁴	typical (50%)	Frequent (79-30%)	HP:0000708
9	seizures⁶⁴ ⁵⁴	typical (50%)	Frequent (79-30%)	HP:0001250
10	hypertonia⁶⁴ ⁵⁴	typical (50%)	Frequent (79-30%)	HP:0001276
11	hyperreflexia⁶⁴ ⁵⁴	typical (50%)	Frequent (79-30%)	HP:0001347
12	eeg abnormality⁶⁴ ⁵⁴	typical (50%)	Frequent (79-30%)	HP:0002353
13	developmental regression⁶⁴	typical (50%)		HP:0002376
14	scoliosis⁶⁴ ⁵⁴	typical (50%)	Frequent (79-30%)	HP:0002650
15	spina bifida occulta⁶⁴ ⁵⁴	typical (50%)	Frequent (79-30%)	HP:0003298
16	abnormal form of the vertebral bodies⁶⁴ ⁵⁴	typical (50%)	Frequent (79-30%)	HP:0003312
17	abnormality of the pharynx⁶⁴ ⁵⁴	occasional (7.5%)	Occasional (29-5%)	HP:0000600
18	optic atrophy⁶⁴ ⁵⁴	occasional (7.5%)	Occasional (29-5%)	HP:0000648
19	ophthalmoplegia⁵⁴		Frequent (79-30%)
20	dementia⁵⁴		Frequent (79-30%)
21	ataxia⁵⁴		Very frequent (99-80%)
22	dysarthria⁵⁴		Very frequent (99-80%)

MGI Mouse Phenotypes related to Neuronal Intranuclear Inclusion Disease according to GeneCards Suite gene sharing:

⁴¹

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	7.8	APBA1, ATXN1, ATXN3, DNM1, HDAC4, HSP90AA1
2	nervous system	MP:0003631	7.3	APBA1, ATXN1, ATXN3, DNM1, HDAC4, MAPT
3	mortality/aging	MP:0010768	7.1	APBA1, ATXN1, DNM1, HDAC4, HSP90AA1, MAPT

Drugs & Therapeutics for Neuronal Intranuclear Inclusion Disease

Sources:
⁴ClinicalTrials, ⁴⁶NDF-RT, ⁶⁸UMLS
See all MalaCards sources

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Neuronal Intranuclear Inclusion Disease

Genetic Tests for Neuronal Intranuclear Inclusion Disease

Anatomical Context for Neuronal Intranuclear Inclusion Disease

Sources:
³⁶MalaCards
See all MalaCards sources

MalaCards organs/tissues related to Neuronal Intranuclear Inclusion Disease:

³⁶

Brain, Skeletal muscle, Skin

Publications for Neuronal Intranuclear Inclusion Disease

Sources:
⁵⁷PubMed
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Articles related to Neuronal Intranuclear Inclusion Disease:

(show all 32)

id	Title	Authors	Year
1	Pathological background of subcortical hyperintensities on diffusion-weighted images in a case of neuronal intranuclear inclusion disease. (27719745)	Yokoi S.... Sobue G.	2016
2	Neuronal intranuclear inclusion disease with leukoencephalopathy and light motor-sensory and autonomic neuropathy diagnosed by skin biopsy. (27538646)	Aiba Y.... Ogata T.	2016
3	Sporadic adult-onset neuronal intranuclear inclusion disease with the main presentation of repeated cerebellar ataxia: a case study. (27181748)	Sakurai T.... Nishida H.	2016
4	Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. (27797808)	Sone J.... Sobue G.	2016
5	Memory Loss and Frontal Cognitive Dysfunction in a Patient with Adult-onset Neuronal Intranuclear Inclusion Disease. (27523009)	Araki K.... Sobue G.	2016
6	Optineurin immunoreactivity in neuronal and glial intranuclear inclusions in adult-onset neuronal intranuclear inclusion disease. (25232514)	Nakamura M.... Dickson D.W.	2014
7	Neuronal intranuclear inclusion disease presenting with resting tremor. (24987362)	Kitagawa N.... Sakurai M.	2014
8	Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy. (24039026)	Sone J.... Sobue G.	2013
9	Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease. (21411744)	Sone J.... Sobue G.	2011
10	Neuronal intranuclear inclusion disease: no longer a pain in the butt. (21411743)	Josephs K.A.	2011
11	Neuronal intranuclear inclusion disease: two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia. (20629123)	Lai S.C.... Lu C.S.	2010
12	Neuronal Intranuclear Inclusion Disease presenting as juvenile Parkinsonism. (20437931)	Wiltshire K.M.... Suchowersky O.	2010
13	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
14	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
15	SUMOylation substrates in neuronal intranuclear inclusion disease. (16409557)	Takahashi-Fujigasaki J.... Fujigasaki H.	2006
16	Neuronal intranuclear inclusion disease without polyglutamine inclusions in a child. (15977647)	McFadden K.... Wiley C.A.	2005
17	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
18	Neuronal intranuclear inclusion disease in a horse. (15971054)	Pumarola M.... Ferrer I.	2005
19	SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease. (14637113)	Pountney D.L.... Gai W.P.	2003
20	Influences of intranuclear inclusion on nuclear size - morphometric study on pontine neurons of neuronal intranuclear inclusion disease cases. (12536220)	Uchihara T.... Hattori T.	2003
21	Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration. (12164731)	Zannolli R.... Giannini F.	2002
22	Neuronal intranuclear inclusion disease and juvenile parkinsonism. (11009211)	O'Sullivan J.D.... Lees A.J.	2000
23	Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease. (10443897)	Lieberman A.P.... Fischbeck K.H.	1999
24	Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions. (9804114)	Kimber T.E.... Suthers G.	1998
25	Polyglutamine-containing aggregates in neuronal intranuclear inclusion disease. (9525376)	Lieberman A.P.... Fischbeck K.H.	1998
26	Neuronal intranuclear inclusion disease: neuropathologic study of a case. (9760997)	Malandrini A.... Guazzi G.C.	1998
27	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
28	Cardiomyopathy and myocyte intranuclear inclusions in neuronal intranuclear inclusion disease: a case report. (1649120)	Oyer C.E.... Popovic M.	1991
29	Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy. (2405768)	GoutiA"res F.... Aicardi J.	1990
30	Neuronal intranuclear inclusion disease. Clinical ophthalmological features and ophthalmic pathology. (3028034)	Haltia M.... Karli H.	1986
31	Neuronal intranuclear inclusion disease in two adult siblings. (2983603)	Bird T.D.... Schuffler M.D.	1985
32	Neuronal intranuclear inclusion disease in identical twins. (6331275)	Haltia M.... Johnson W.G.	1984

Genes related to Neuronal Intranuclear Inclusion Disease

Sources:
²¹GeneCards, ⁵⁰Novoseek
See all MalaCards sources

Genes related to Neuronal Intranuclear Inclusion Disease:

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	SUMO1	Small Ubiquitin-Like Modifier 1	18.69	GeneCards inferred via : Publications (show sections)
2	PML	Promyelocytic Leukemia	18.49	GeneCards inferred via : Publications (show sections)
3	RPS27A	Ribosomal Protein S27a	18.19	Novoseek inferred ⁵⁰	9804114, 10222105, 11009211
4	SNCA	Synuclein Alpha	18.14	GeneCards inferred via : Publications (show sections)
5	STXBP1	Syntaxin Binding Protein 1	18.14	GeneCards inferred via : Publications (show sections)
6	HDAC4	Histone Deacetylase 4	18.14	GeneCards inferred via : Publications (show sections)
7	HSP90AA1	Heat Shock Protein 90 Alpha Family Class A Member 1	18.14	GeneCards inferred via : Publications (show sections)
8	MAPT	Microtubule Associated Protein Tau	18.14	GeneCards inferred via : Publications (show sections)
9	DNM1	Dynamin 1	18.14	GeneCards inferred via : Publications (show sections)
10	ATXN1	Ataxin 1	18.14	GeneCards inferred via : Publications (show sections)
11	ATXN3	Ataxin 3	18.14	GeneCards inferred via : Publications (show sections)
12	NSF	N-Ethylmaleimide Sensitive Factor, Vesicle Fusing ATPase	8.14	GeneCards inferred via : Publications (show sections)
13	ABT1	Activator Of Basal Transcription 1	8.14	GeneCards inferred via : Publications (show sections)
14	APBA1	Amyloid Beta Precursor Protein Binding Family A Member 1	8.14	GeneCards inferred via : Publications (show sections)

Variations for Neuronal Intranuclear Inclusion Disease

Expression for genes affiliated with Neuronal Intranuclear Inclusion Disease

Sources:
¹⁸Gene Expression Omnibus DataSets
See all MalaCards sources

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

Pathways for genes affiliated with Neuronal Intranuclear Inclusion Disease

Sources:
³Cell Signaling Technology, ³⁴KEGG, ⁴²NCBI BioSystems Database, ⁵⁵PathCards
See all MalaCards sources

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

id	Super pathways	Score	Top Affiliating Genes
1	Sumoylation by RanBP2 regulates transcriptional repression⁴²	9.9	HDAC4, SUMO1
2	Signaling events mediated by HDAC Class II⁴²	9.6	HDAC4, HSP90AA1, SUMO1
3	EGFR1 Signaling Pathway⁴²	9.5	DNM1, SNCA, STXBP1
4	Synaptic vesicle cycle³⁴ Show member pathways Synaptic Vesicle Pathway⁴²	9.1	DNM1, NSF, STXBP1
5	Neuroscience³	8.4	ATXN1, MAPT, NSF, SNCA, STXBP1

GO Terms for genes affiliated with Neuronal Intranuclear Inclusion Disease

Sources:
¹⁹Gene Ontology
See all MalaCards sources

Cellular components related to Neuronal Intranuclear Inclusion Disease according to GeneCards Suite gene sharing:

id	Name	GO ID	Score	Top Affiliating Genes
1	nuclear inclusion body	GO:0042405	10.3	ATXN1, ATXN3
2	nuclear matrix	GO:0016363	10.1	ATXN1, ATXN3, PML
3	myelin sheath	GO:0043209	9.4	DNM1, HSP90AA1, NSF, RPS27A, STXBP1
4	synaptic vesicle	GO:0008021	9.3	APBA1, DNM1, SNCA
5	protein complex	GO:0043234	9.1	APBA1, DNM1, HDAC4, HSP90AA1, STXBP1
6	nucleoplasm	GO:0005654	8.6	ATXN1, ATXN3, HDAC4, HSP90AA1, PML, RPS27A
7	plasma membrane	GO:0005886	7.8	APBA1, DNM1, HSP90AA1, MAPT, NSF, RPS27A
8	cytosol	GO:0005829	7.5	APBA1, ATXN3, HDAC4, HSP90AA1, MAPT, NSF
9	cytoplasm	GO:0005737	6.9	ATXN1, ATXN3, DNM1, HDAC4, HSP90AA1, MAPT
10	nucleus	GO:0005634	6.9	ABT1, APBA1, ATXN1, ATXN3, HDAC4, HSP90AA1

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

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	global genome nucleotide-excision repair	GO:0070911	10.6	RPS27A, SUMO1
2	PML body organization	GO:0030578	10.6	PML, SUMO1
3	intrinsic apoptotic signaling pathway in response to oxidative stress	GO:0008631	10.4	MAPT, PML
4	positive regulation of lamellipodium assembly	GO:0010592	10.4	HDAC4, HSP90AA1
5	glutamate secretion	GO:0014047	10.2	APBA1, STXBP1
6	histone H3 deacetylation	GO:0070932	10.2	ATXN3, HDAC4
7	axo-dendritic transport	GO:0008088	10.2	APBA1, MAPT
8	positive regulation of receptor recycling	GO:0001921	10.1	NSF, SNCA
9	protein stabilization	GO:0050821	9.6	HSP90AA1, STXBP1, SUMO1

Molecular functions related to Neuronal Intranuclear Inclusion Disease according to GeneCards Suite gene sharing:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	tau protein binding	GO:0048156	9.8	HSP90AA1, SNCA
2	syntaxin-1 binding	GO:0017075	9.8	NSF, STXBP1
3	protein complex binding	GO:0032403	9.2	APBA1, DNM1, MAPT, NSF
4	identical protein binding	GO:0042802	9.0	ATXN1, ATXN3, DNM1, HSP90AA1, SNCA, STXBP1
5	poly(A) RNA binding	GO:0044822	8.9	ABT1, DNM1, HSP90AA1, RPS27A, STXBP1, SUMO1
6	protein kinase binding	GO:0019901	8.5	DNM1, HDAC4, HSP90AA1, MAPT, NSF, STXBP1
7	protein binding	GO:0005515	5.4	ABT1, APBA1, ATXN1, ATXN3, DNM1, HDAC4