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

Aliases & Classifications for Neuronal Intranuclear Inclusion Disease

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

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: ²⁸

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: ⁵¹

Rare neurological diseases

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

Sources:
⁴⁵NIH Rare Diseases, ³³MalaCards
See all MalaCards sources

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

Sources:
²⁰GeneCards, ¹⁹GeneAnalytics
See all MalaCards sources

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

(show all 36)

id	Related Disease	Score	Top Affiliating Genes
1	neuronitis	10.7
2	retinoblastoma fa - friedreich ataxia	10.5	MAPT, SNCA
3	snrnp200-related retinitis pigmentosa	10.5	MAPT, SNCA
4	estrogen excess	10.4	MAPT, SNCA
5	pde6d-related joubert syndrome	10.4	MAPT, SNCA
6	mast syndrome	10.3	MAPT, SNCA
7	hereditary hemorrhagic telangiectasia	10.3	ATXN1, ATXN3
8	bradyopsia	10.3	MAPT, RPS27A
9	semmekrot haraldsson weemaes syndrome	10.3	MAPT, RPS27A
10	atrioventricular septal defect 5	10.3	MAPT, SNCA
11	perry syndrome	10.3	MAPT, SNCA
12	okt4 epitope deficiency	10.2	ATXN1, ATXN3, PML
13	polycystic kidney disease 2	10.2	ATXN1, MAPT, SNCA
14	upper lip cancer	10.2	ATXN3, MAPT, SNCA
15	atopic dermatitis	10.2	ATXN3, MAPT, SNCA
16	dubowitz syndrome	10.2	RPS27A, SNCA
17	hypospadias 1, x-linked	10.1	ATXN1, ATXN3, HSP90AA1
18	supranuclear palsy, progressive atypical	10.1	MAPT, RPS27A, SNCA
19	parkinson disease 1	10.1	MAPT, RPS27A, SNCA
20	pick disease	10.1	MAPT, RPS27A, SNCA
21	cardiomyopathy, dilated, 1u	10.1	MAPT, RPS27A, SNCA
22	colon kaposi sarcoma	10.0	MAPT, RPS27A, SNCA
23	subcortical arteriosclerotic encephalopathy	10.0	ATXN1, ATXN3, RPS27A
24	mental retardation, autosomal recessive 32	10.0	ATXN1, ATXN3, RPS27A
25	cerebellar ataxia	10.0
26	intestinal pseudo-obstruction	10.0
27	dystonia	10.0
28	cerebellar degeneration	10.0
29	drug induced dyskinesia	10.0
30	cardiomyopathy	10.0
31	ataxia	10.0
32	tremor	10.0
33	schistosoma mansoni infection, susceptibility/	9.9	ATXN1, ATXN3
34	mucopolysaccharidosis ih	9.7	ATXN1, ATXN3, SNCA
35	parkinson disease, late-onset	9.7	ATXN3, MAPT, RPS27A, SNCA
36	neuropathy ataxia retinitis pigmentosa syndrome	5.7	ABT1, APBA1, ATXN1, ATXN3, DNM1, HDAC4

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

Symptoms for Neuronal Intranuclear Inclusion Disease

Sources:
⁶¹The Human Phenotype Ontology, ⁵¹Orphanet
See all MalaCards sources

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

Sources:
⁴⁴NIH Clinical Center, ⁴ClinicalTrials, ⁶⁵UMLS, ⁴³NDF-RT
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:
³³MalaCards
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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

Sources:
³⁸MGI
See all MalaCards sources

MGI Mouse Phenotypes related to Neuronal Intranuclear Inclusion Disease:

³⁸

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	7.2	APBA1, ATXN1, ATXN3, DNM1, HDAC4, MAPT
2	behavior/neurological	MP:0005386	6.9	APBA1, ATXN1, ATXN3, DNM1, HDAC4, HSP90AA1
3	mortality/aging	MP:0010768	6.2	APBA1, ATXN1, DNM1, HDAC4, HSP90AA1, MAPT

Publications for Neuronal Intranuclear Inclusion Disease

Sources:
⁵⁴PubMed
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Articles related to Neuronal Intranuclear Inclusion Disease:

(show all 28)

id	Title	Authors	Year
1	Sporadic adult-onset neuronal intranuclear inclusion disease with the main presentation of repeated cerebellar ataxia: a case study. (27181748)	Sakurai T.... Nishida H.	2016
2	Optineurin immunoreactivity in neuronal and glial intranuclear inclusions in adult-onset neuronal intranuclear inclusion disease. (25232514)	Nakamura M.... Dickson D.W.	2014
3	Neuronal intranuclear inclusion disease presenting with resting tremor. (24987362)	Kitagawa N.... Sakurai M.	2014
4	Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy. (24039026)	Sone J.... Sobue G.	2013
5	Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease. (21411744)	Sone J.... Sobue G.	2011
6	Neuronal intranuclear inclusion disease: no longer a pain in the butt. (21411743)	Josephs K.A.	2011
7	Neuronal Intranuclear Inclusion Disease presenting as juvenile Parkinsonism. (20437931)	Wiltshire K.M.... Suchowersky O.	2010
8	Neuronal intranuclear inclusion disease: two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia. (20629123)	Lai S.C.... Lu C.S.	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)	Pountney D.L.... Gai W.P.	2008
10	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
11	SUMOylation substrates in neuronal intranuclear inclusion disease. (16409557)	Takahashi-Fujigasaki J.... Fujigasaki H.	2006
12	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
13	Neuronal intranuclear inclusion disease without polyglutamine inclusions in a child. (15977647)	McFadden K.... Wiley C.A.	2005
14	Neuronal intranuclear inclusion disease in a horse. (15971054)	Pumarola M.... Ferrer I.	2005
15	SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease. (14637113)	Pountney D.L.... Gai W.P.	2003
16	Influences of intranuclear inclusion on nuclear size - morphometric study on pontine neurons of neuronal intranuclear inclusion disease cases. (12536220)	Uchihara T.... Hattori T.	2003
17	Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration. (12164731)	Zannolli R.... Giannini F.	2002
18	Neuronal intranuclear inclusion disease and juvenile parkinsonism. (11009211)	O'Sullivan J.D.... Lees A.J.	2000
19	Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease. (10443897)	Lieberman A.P.... Fischbeck K.H.	1999
20	Neuronal intranuclear inclusion disease: neuropathologic study of a case. (9760997)	Malandrini A.... Guazzi G.C.	1998
21	Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions. (9804114)	Kimber T.E.... Suthers G.	1998
22	Polyglutamine-containing aggregates in neuronal intranuclear inclusion disease. (9525376)	Lieberman A.P.... Fischbeck K.H.	1998
23	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
24	Cardiomyopathy and myocyte intranuclear inclusions in neuronal intranuclear inclusion disease: a case report. (1649120)	Oyer C.E.... Popovic M.	1991
25	Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy. (2405768)	GoutiA"res F.... Aicardi J.	1990
26	Neuronal intranuclear inclusion disease. Clinical ophthalmological features and ophthalmic pathology. (3028034)	Haltia M.... Karli H.	1986
27	Neuronal intranuclear inclusion disease in two adult siblings. (2983603)	Bird T.D.... Schuffler M.D.	1985
28	Neuronal intranuclear inclusion disease in identical twins. (6331275)	Haltia M.... Johnson W.G.	1984

Genes related to Neuronal Intranuclear Inclusion Disease

Sources:
²⁰GeneCards, ⁴⁷Novoseek
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	18.74	GeneCards inferred via : Publications (show sections)
2	PML	Promyelocytic Leukemia	18.53	GeneCards inferred via : Publications (show sections)
3	DNM1	Dynamin 1	18.53	GeneCards inferred via : Publications (show sections)
4	RPS27A	Ribosomal Protein S27a	18.19	Novoseek inferred ⁴⁷	9804114, 10222105, 11009211
5	MAPT	Microtubule Associated Protein Tau	18.19	GeneCards inferred via : Publications (show sections)
6	STXBP1	Syntaxin Binding Protein 1	18.19	GeneCards inferred via : Publications (show sections)
7	SNCA	Synuclein Alpha	18.19	GeneCards inferred via : Publications (show sections)
8	ATXN3	Ataxin 3	18.19	GeneCards inferred via : Publications (show sections)
9	ATXN1	Ataxin 1	18.19	GeneCards inferred via : Publications (show sections)
10	HSP90AA1	Heat Shock Protein 90kDa Alpha Family Class A Member 1	18.19	GeneCards inferred via : Publications (show sections)
11	HDAC4	Histone Deacetylase 4	18.19	GeneCards inferred via : Publications (show sections)
12	APBA1	Amyloid Beta Precursor Protein Binding Family A Member 1	8.19	GeneCards inferred via : Publications (show sections)
13	ABT1	Activator Of Basal Transcription 1	8.19	GeneCards inferred via : Publications (show sections)
14	NSF	N-Ethylmaleimide Sensitive Factor	8.19	GeneCards inferred via : Publications (show sections)

Variations for Neuronal Intranuclear Inclusion Disease

Expression for genes affiliated with Neuronal Intranuclear Inclusion Disease

Sources:
¹⁷Gene 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:
⁵²PathCards, ⁶²Thomson Reuters, ⁵⁵QIAGEN, ³⁹NCBI BioSystems Database, ⁵⁸SinoBiological, ³¹KEGG
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	Proteolysis_Putative ubiquitin pathway⁶²	9.8	ATXN3, RPS27A
2	AHR Pathway (Qiagen)⁵⁵ Show member pathways AHR Pathway⁵⁵	9.8	HSP90AA1, SUMO1
3	Sumoylation by RanBP2 regulates transcriptional repression³⁹ Show member pathways miRNA Biogenesis³⁹	9.7	HDAC4, SUMO1
4	Proteolysis Putative SUMO-1 pathway⁶² Show member pathways DNA damage Role of SUMO in p53 regulation⁶²	9.7	PML, RPS27A, SUMO1
5	EGFR1 Signaling Pathway³⁹	9.5	DNM1, SNCA, STXBP1
6	TNF-alpha/NF-kB Signaling Pathway³⁹	9.5	HSP90AA1, PML, SUMO1
7	p53 Signaling⁵⁵ Show member pathways p53 Pathway⁵⁸	9.4	HDAC4, PML, RPS27A
8	Synaptic vesicle cycle³¹ Show member pathways Synaptic Vesicle Pathway³⁹	9.4	DNM1, NSF, STXBP1
9	Signaling events mediated by HDAC Class II³⁹	9.3	HDAC4, HSP90AA1, SUMO1
10	Chks in Checkpoint Regulation⁵⁵ Show member pathways Parkinsons Disease Pathway⁵⁵ Estrogen-mediated S-Phase Entry⁵⁵ DNA Repair Mechanisms⁵⁵ G2-M Phase Transition⁵⁵ SREBP Proteolysis⁵⁵	9.1	ATXN1, ATXN3, RPS27A, SNCA

GO Terms for genes affiliated with Neuronal Intranuclear Inclusion Disease

Sources:
¹⁸Gene Ontology
See all MalaCards sources

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

id	Name	GO ID	Score	Top Affiliating Genes
1	ERBB2 signaling pathway	GO:0038128	10.0	HSP90AA1, RPS27A
2	cytokine-mediated signaling pathway	GO:0019221	10.0	PML, RPS27A, SUMO1
3	protein stabilization	GO:0050821	9.8	PML, STXBP1, SUMO1
4	proteasome-mediated ubiquitin-dependent protein catabolic process	GO:0043161	9.7	ATXN3, PML, RPS27A
5	nucleotide-excision repair	GO:0006289	9.5	ATXN3, RPS27A, SUMO1
6	cellular protein metabolic process	GO:0044267	8.8	NSF, PML, RPS27A, SNCA, SUMO1