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MCID: SPS087
MIFTS: 21

Spasmus Nutans

Categories: Eye diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Spasmus Nutans

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MalaCards integrated aliases for Spasmus Nutans:

Name: Spasmus Nutans 58 71
Nodding Spasm 71

Characteristics:

Orphanet epidemiological data:

58
spasmus nutans
Age of onset: Infancy; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare eye diseases


External Ids:

ICD10 via Orphanet 33 F98.4
UMLS via Orphanet 72 C1527306
Orphanet 58 ORPHA279882
SNOMED-CT via HPO 68 270476009 563001 70070008 more
UMLS 71 C0546878 C1527306
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Summaries for Spasmus Nutans

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MalaCards based summary : Spasmus Nutans, also known as nodding spasm, is related to pathologic nystagmus and torticollis. An important gene associated with Spasmus Nutans is NYS2 (Nystagmus 2, Congenital Autosomal Dominant). Affiliated tissues include eye, and related phenotypes are nystagmus and torticollis

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Related Diseases for Spasmus Nutans

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Diseases related to Spasmus Nutans via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 pathologic nystagmus 10.9
2 torticollis 10.5
3 strabismus 10.4
4 mechanical strabismus 10.4
5 suppression amblyopia 10.4
6 amblyopia 10.4
7 congenital nystagmus 10.4
8 yemenite deaf-blind hypopigmentation syndrome 10.3
9 congenital stationary night blindness 10.3
10 monocular esotropia 10.3
11 retinal disease 10.3
12 night blindness 10.3
13 esotropia 10.3
14 glioma 10.3
15 glial tumor 10.3
16 arachnoid cysts, intracranial 10.2
17 3-methylglutaconic aciduria, type iii 10.2
18 retinitis pigmentosa 10.2
19 cone dystrophy 10.2
20 dissociated nystagmus 10.2
21 refractive error 10.2
22 alcohol dependence 10.1
23 glioma susceptibility 1 10.1
24 nystagmus 2, congenital, autosomal dominant 10.1
25 optic nerve hypoplasia, bilateral 10.1
26 ocular motor apraxia 10.1
27 astigmatism 10.1
28 polydactyly 10.1
29 apraxia 10.1
30 hydrocephalus 10.1
31 anisometropia 10.1
32 achromatopsia 10.1
33 obstructive hydrocephalus 10.1
34 bardet-biedl syndrome 10.1
35 malignant astrocytoma 10.1
36 movement disease 10.1
37 pilocytic astrocytoma 10.1
38 thalamic neoplasm 10.1
39 juvenile pilocytic astrocytoma 10.1
40 diencephalic syndrome 10.1
41 encephalopathy 10.1
42 myoclonus 10.1
43 posttransplant acute limbic encephalitis 10.1

Graphical network of the top 20 diseases related to Spasmus Nutans:



Diseases related to Spasmus Nutans
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Symptoms & Phenotypes for Spasmus Nutans

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Human phenotypes related to Spasmus Nutans:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 torticollis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000473
3 abnormality of movement 58 Very frequent (99-80%)
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Drugs & Therapeutics for Spasmus Nutans

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Search Clinical Trials , NIH Clinical Center for Spasmus Nutans

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Genetic Tests for Spasmus Nutans

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Anatomical Context for Spasmus Nutans

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MalaCards organs/tissues related to Spasmus Nutans:

40
Eye
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Publications for Spasmus Nutans

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Articles related to Spasmus Nutans:

(show top 50) (show all 116)
# Title Authors PMID Year
1
RP2 Rod-Cone Dystrophy Causes Spasmus Nutans-Like Nystagmus. 61
31972715 2021
2
Non-epileptic paroxysmal events in paediatric patients: A single tertiary centre study in Egypt. 61
33607445 2021
3
Ocular evaluation and genetic test for an early Alström Syndrome diagnosis. 61
32944671 2020
4
50 Years Ago in The Journal of Pediatrics: The Cause of Spasmus Nutans and Congenital Nystagmus: Frozen in Time. 61
32711744 2020
5
Acquired monocular nystagmus in chiasmal glioma-a video-oculographic study. 61
30731126 2019
6
Long-Term Follow-up of Spasmus Nutans. 61
30332338 2018
7
Magnetic resonance imaging findings in children with spasmus nutans. 61
28625470 2017
8
ACCIDENTAL DUPLICATION: MR Imaging Findings in Children with Spasmus Nutans. 61
28587881 2017
9
Magnetic resonance imaging findings in children with spasmus nutans. 61
28284856 2017
10
Infantile nystagmus: an optometrist's perspective. 61
30214368 2017
11
Unusual tremor syndromes: know in order to recognise. 61
26985048 2016
12
Abnormal head oscillations in neuro-ophthalmology and neuro-otology. 61
26641814 2016
13
Spasmus Nutans: More Than Meets the Eye. 61
26228708 2015
14
Chiasmal glioma in spasmus nutans: a cautionary note. 61
24699142 2014
15
[Spasmus nutans and vermian agenesis: case report]. 61
24986066 2014
16
A child with benign neonatal jitteriness and spasmus nutans. 61
24026894 2014
17
[Eye movement disorders in children]. 61
24637828 2014
18
[Spasmus nutans]. 61
24225300 2013
19
Late-onset epilepsy in children with acute febrile encephalopathy with prolonged convulsions: A clinical and encephalographic study. 61
22982002 2013
20
Infantile and acquired nystagmus in childhood. 61
22459007 2012
21
Emergence of diplopia and oscillopsia due to Heimann-Bielschowsky phenomenon after cataract surgery. 61
18815421 2008
22
Nystagmus characteristics in congenital stationary night blindness (CSNB). 61
18227204 2008
23
A new trial liposteroid (dexamethasone palmitate) therapy for intractable epileptic seizures in infancy. 61
17275235 2007
24
Spasmus nutans-like nystagmus is often associated with underlying ocular, intracranial, or systemic abnormalities. 61
17548996 2007
25
Spasmus nutans and congenital ocular motor apraxia with cerebellar vermian hypoplasia. 61
14623737 2003
26
Infantile-onset nystagmus. 61
14502055 2003
27
Latent nystagmus and acquired pendular nystagmus masquerading as spasmus nutans. 61
14504591 2003
28
Transient, idiopathic nystagmus in infants. 61
12729143 2003
29
Tremor in children. 61
12785745 2003
30
Nystagmus in suprasellar tumors: recent advances in diagnosis and therapy. 61
12221498 2002
31
A comparative demographicand socioeconomic study of spasmus nutans and infantile nystagmus. 61
11812431 2002
32
Diagnosing children presenting with asymmetric pendular nystagmus. 61
11570632 2001
33
SPASMUS NUTANS. 61
27407346 2001
34
Electroretinography is necessary for spasmus nutans diagnosis. 61
10963967 2000
35
Oculographic and clinical characterization of thirty-seven children with anomalous head postures, nystagmus, and strabismus: the basis of a clinical algorithm. 61
10675868 2000
36
Nystagmus mimicking spasmus nutans as the presenting sign of Bardet-Biedl syndrome. 61
10612522 1999
37
[Motor paroxysmal disorders]. 61
10101774 1999
38
Liposteroid (dexamethasone palmitate) therapy for West syndrome: a comparative study with ACTH therapy. 61
9650682 1998
39
[Spasmus nutans: apropos of 16 cases]. 61
10327992 1998
40
Convergence nystagmus associated with spasmus nutans. 61
9427183 1997
41
Convergence nystagmus associated with spasmus nutans: a comment. 61
9176786 1997
42
The association of strabismus, amblyopia, and refractive errors in spasmus nutans. 61
9022113 1997
43
Pediatric ophthalmology. 61
10165105 1996
44
Convergence nystagmus associated with spasmus nutans. 61
8865014 1996
45
Spasmus nutans. 61
8893938 1996
46
Head and eye movements in children with low vision. 61
8738703 1996
47
Neuroimaging in all cases of spasmus nutans. 61
8965230 1996
48
Spasmus nutans. A long-term follow-up. 61
7499100 1995
49
Prevalence of intracranial lesions in children initially diagnosed with disconjugate nystagmus (spasmus nutans) 61
8531033 1995
50
Spasmus nutans: what to do? 61
8531030 1995
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Variations for Spasmus Nutans

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Expression for Spasmus Nutans

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Search GEO for disease gene expression data for Spasmus Nutans.
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Pathways for Spasmus Nutans

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GO Terms for Spasmus Nutans

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Sources for Spasmus Nutans

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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