MCID: NRN008
MIFTS: 38

Neuronal Intranuclear Inclusion Disease malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Neuronal Intranuclear Inclusion Disease

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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

Classifications:



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

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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 neuroblastoma and atrioventricular septal defect, 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 . Affiliated tissues include skeletal muscle, brain and heart, and related mouse phenotypes are nervous system and behavior/neurological.

Related Diseases for Neuronal Intranuclear Inclusion Disease

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

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1neuroblastoma10.4
2atrioventricular septal defect10.4
3epicondylitis10.4
4cleft mitral valve10.4
5leukemia10.4
6retinoblastoma fa - friedreich ataxia10.3MAPT, SNCA
7snrnp200-related retinitis pigmentosa10.3MAPT, SNCA
8estrogen excess10.3MAPT, SNCA
9pde6d-related joubert syndrome10.2MAPT, SNCA
10mast syndrome10.2MAPT, SNCA
11hereditary hemorrhagic telangiectasia10.2ATXN1, ATXN3
12colorectal cancer10.2
13cinca syndrome10.2
14alcohol dependence10.2
15angina pectoris10.2
16gastric cancer10.2
17granuloma annulare10.2
18asphyxiating thoracic dystrophy10.2
19alexithymia10.2
20rickets10.2
21meconium aspiration syndrome10.2
22tick paralysis10.2
23ventricular septal defect10.2
24melanoma10.2
25dyspepsia10.2
26neuronitis10.2
27herpes simplex10.2
28neuropathy10.2
29encephalitis10.2
30herpes simplex encephalitis10.2
31endotheliitis10.2
32bradyopsia10.2MAPT, RPS27A
33semmekrot haraldsson weemaes syndrome10.2MAPT, RPS27A
34atrioventricular septal defect 510.2MAPT, SNCA
35perry syndrome10.2MAPT, SNCA
36okt4 epitope deficiency10.2ATXN1, ATXN3, PML
37polycystic kidney disease 210.1ATXN1, MAPT, SNCA
38upper lip cancer10.1ATXN3, MAPT, SNCA
39atopic dermatitis10.1ATXN3, MAPT, SNCA
40dubowitz syndrome10.1RPS27A, SNCA
41hypospadias 1, x-linked10.1ATXN1, ATXN3, HSP90AA1
42supranuclear palsy, progressive atypical10.1MAPT, RPS27A, SNCA
43parkinson disease 110.0MAPT, RPS27A, SNCA
44pick disease10.0MAPT, RPS27A, SNCA
45cardiomyopathy, dilated, 1u10.0MAPT, RPS27A, SNCA
46colon kaposi sarcoma10.0MAPT, RPS27A, SNCA
47subcortical arteriosclerotic encephalopathy10.0ATXN1, ATXN3, RPS27A
48mental retardation, autosomal recessive 3210.0ATXN1, ATXN3, RPS27A
49schistosoma mansoni infection, susceptibility/9.9ATXN1, ATXN3
50mucopolysaccharidosis ih9.8ATXN1, ATXN3, SNCA

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



Diseases related to neuronal intranuclear inclusion disease

Symptoms for Neuronal Intranuclear Inclusion Disease

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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

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center 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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MalaCards organs/tissues related to Neuronal Intranuclear Inclusion Disease:

33
Skeletal muscle, Brain, Heart, Breast, Kidney, Prostate, T cells

Animal Models for Neuronal Intranuclear Inclusion Disease or affiliated genes

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MGI Mouse Phenotypes related to Neuronal Intranuclear Inclusion Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.2APBA1, ATXN1, ATXN3, DNM1, HDAC4, MAPT
2MP:00053866.9APBA1, ATXN1, ATXN3, DNM1, HDAC4, HSP90AA1
3MP:00107686.2APBA1, ATXN1, DNM1, HDAC4, HSP90AA1, MAPT

Publications for Neuronal Intranuclear Inclusion Disease

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Articles related to Neuronal Intranuclear Inclusion Disease:

(show all 27)
idTitleAuthorsYear
1
Treatment of hip subluxation in skeletally mature patients with cerebral palsy. (25901615)
2015
2
Placental mitochondrial DNA content and placental abruption: a pilot study. (26377917)
2015
3
Ophthalmological assessment of children with neurofibromatosis type 1. (23975410)
2014
4
Fractalkine promotes platelet activation and vascular dysfunction in congestive heart failure. (24336891)
2013
5
Serum cytokine profile in patients with active lupus nephritis. (22846145)
2012
6
Early intravitreal treatment of endogenous bacterial endophthalmitis. (22050564)
2011
7
Gain of RNA function in pathological cases: Focus on myotonic dystrophy. (21763392)
2011
8
Brachydactyly, anonychia and a deformed nasal tip in a 16-year-old girl: a case report. (20926359)
2011
9
Heme oxygenase-1 contributes to an alternative macrophage activation profile induced by apoptotic cell supernatants. (19129475)
2009
10
HLA-B27 misfolding and the unfolded protein response augment interleukin-23 production and are associated with Th17 activation in transgenic rats. (19714651)
2009
11
Statins and congestive heart failure. (18706277)
2008
12
Functional analysis of NKX3.1 in LNCaP prostate cancer cells by RNA interference. (18360715)
2008
13
Patterns and stages of alpha-synucleinopathy: Relevance in a population-based cohort. (18362284)
2008
14
Viral infections and the kidney: HIV, hepatitis B, and hepatitis C. (17506240)
2007
15
What is the best treatment for primary breast lymphoma? Combined modality should be adapted according to the risk stratification. (17071469)
2006
16
3alpha/beta,20beta-hydroxysteroid dehydrogenase (porcine testicular carbonyl reductase) also has a cysteine residue that is involved in binding of cofactor NADPH. (15145449)
2004
17
Interaction between hyperhomocysteinemia, mutated methylenetetrahydrofolatereductase (MTHFR) and inherited thrombophilic factors in recurrent venous thrombosis. (12428084)
2002
18
Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby. (11703298)
2001
19
Simplified multiplex-PCR diagnosis of common southeast asian deletional determinants of alpha-thalassemia. (11017952)
2000
20
Perforin and Fas-ligand expression of tumor infiltrating lymphocytes in human hepatocellular carcinoma]. (11244971)
1998
21
Characterization of a Bacteroides species from human intestine that degrades glycosaminoglycans. (9699297)
1998
22
Response of babesiosis to a combined regimen of quinine and azithromycin. (9196774)
1997
23
Molecular cloning and characterization of a cDNA encoding the third putative mammalian hyaluronan synthase. (9083017)
1997
24
Function of killer cell inhibitory receptors for MHC class I molecules. (9052869)
1996
25
Dose-intense taxol: high response rate in patients with platinum-resistant recurrent ovarian cancer. (7505830)
1994
26
Inhibition of cyclosporin A/FK506 resistant, lymphokine-induced T-cell activation by phenothiazine derivatives. (7523957)
1994
27
Hepatic bioavailability of thyroxine and testosterone in familial dysalbuminemic hyperthyroxinemia. (4031018)
1985

Variations for Neuronal Intranuclear Inclusion Disease

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Expression for genes affiliated with Neuronal Intranuclear Inclusion Disease

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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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GO Terms for genes affiliated with Neuronal Intranuclear Inclusion Disease

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

idNameGO IDScoreTop Affiliating Genes
1ERBB2 signaling pathwayGO:003812810.0HSP90AA1, RPS27A
2cytokine-mediated signaling pathwayGO:001922110.0PML, RPS27A, SUMO1
3protein stabilizationGO:00508219.8PML, STXBP1, SUMO1
4proteasome-mediated ubiquitin-dependent protein catabolic processGO:00431619.7ATXN3, PML, RPS27A
5nucleotide-excision repairGO:00062899.5ATXN3, RPS27A, SUMO1
6cellular protein metabolic processGO:00442678.8NSF, PML, RPS27A, SNCA, SUMO1

Sources for Neuronal Intranuclear Inclusion Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet