MCID: SPS087
MIFTS: 21

Spasmus Nutans

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Spasmus Nutans

MalaCards integrated aliases for Spasmus Nutans:

Name: Spasmus Nutans 59 73
Nodding Spasm 73

Characteristics:

Orphanet epidemiological data:

59
spasmus nutans
Age of onset: Infancy; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


External Ids:

Orphanet 59 ORPHA279882
ICD10 via Orphanet 34 F98.4
UMLS via Orphanet 74 C1527306
SNOMED-CT via HPO 69 270476009 70070008 74333002 more

Summaries for Spasmus Nutans

MalaCards based summary : Spasmus Nutans, also known as nodding spasm, is related to glioma and retinal disease. 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

Related Diseases for Spasmus Nutans

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 glioma 10.4
2 retinal disease 10.4
3 congenital nystagmus 10.4
4 strabismus 10.2
5 ocular motor apraxia 10.2
6 bardet-biedl syndrome 2 10.2
7 bardet-biedl syndrome 10 10.2
8 bardet-biedl syndrome 11 10.2
9 bardet-biedl syndrome 12 10.2
10 apraxia 10.2
11 amblyopia 10.2
12 bardet-biedl syndrome 10.2
13 thalamic neoplasm 10.2
14 refractive error 10.2
15 arachnoid cysts 10.2
16 diencephalic syndrome 10.2
17 myoclonus 10.2

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



Diseases related to Spasmus Nutans

Symptoms & Phenotypes for Spasmus Nutans

Human phenotypes related to Spasmus Nutans:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 torticollis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000473
3 abnormality of movement 59 Very frequent (99-80%)

Drugs & Therapeutics for Spasmus Nutans

Search Clinical Trials , NIH Clinical Center for Spasmus Nutans

Genetic Tests for Spasmus Nutans

Anatomical Context for Spasmus Nutans

MalaCards organs/tissues related to Spasmus Nutans:

41
Eye

Publications for Spasmus Nutans

Articles related to Spasmus Nutans:

(show top 50) (show all 60)
# Title Authors Year
1
Long-Term Follow-up of Spasmus Nutans. ( 30332338 )
2018
2
WITHDRAWN: MR Imaging Findings in Children with Spasmus Nutans. ( 28587881 )
2017
3
Magnetic resonance imaging findings in children with spasmus nutans. ( 28284856 )
2017
4
Magnetic resonance imaging findings in children with spasmus nutans. ( 28625470 )
2017
5
Spasmus Nutans: More Than Meets the Eye. ( 26228708 )
2015
6
Chiasmal glioma in spasmus nutans: a cautionary note. ( 24699142 )
2014
7
A child with benign neonatal jitteriness and spasmus nutans. ( 24026894 )
2014
8
Spasmus nutans-like nystagmus is often associated with underlying ocular, intracranial, or systemic abnormalities. ( 17548996 )
2007
9
Latent nystagmus and acquired pendular nystagmus masquerading as spasmus nutans. ( 14504591 )
2003
10
Spasmus nutans and congenital ocular motor apraxia with cerebellar vermian hypoplasia. ( 14623737 )
2003
11
A comparative demographicand socioeconomic study of spasmus nutans and infantile nystagmus. ( 11812431 )
2002
12
SPASMUS NUTANS. ( 27407346 )
2001
13
Electroretinography is necessary for spasmus nutans diagnosis. ( 10963967 )
2000
14
Nystagmus mimicking spasmus nutans as the presenting sign of Bardet-Biedl syndrome. ( 10612522 )
1999
15
Convergence nystagmus associated with spasmus nutans. ( 9427183 )
1997
16
The association of strabismus, amblyopia, and refractive errors in spasmus nutans. ( 9022113 )
1997
17
Convergence nystagmus associated with spasmus nutans: a comment. ( 9176786 )
1997
18
Convergence nystagmus associated with spasmus nutans. ( 8865014 )
1996
19
Spasmus nutans. ( 8893938 )
1996
20
Neuroimaging in all cases of spasmus nutans. ( 8965230 )
1996
21
Quantitative eye and head movement recordings of retinal disease mimicking spasmus nutans. ( 7872404 )
1995
22
Opsoclonus-myoclonus presenting with features of spasmus nutans. ( 7769183 )
1995
23
Spasmus nutans: what to do? ( 8531030 )
1995
24
Spasmus nutans. A long-term follow-up. ( 7499100 )
1995
25
Prevalence of intracranial lesions in children initially diagnosed with disconjugate nystagmus (spasmus nutans) ( 8531033 )
1995
26
Retinal disease masquerading as spasmus nutans. ( 8351022 )
1993
27
Head nodding is compensatory in spasmus nutans. ( 1495779 )
1992
28
Spasmus nutans--or is it? ( 2194309 )
1990
29
Head shaking by visually impaired children: a voluntary neurovisual adaptation which can be confused with spasmus nutans. ( 2286305 )
1990
30
Signs distinguishing spasmus nutans (with and without central nervous system lesions) from infantile nystagmus. ( 2234849 )
1990
31
Can maternal alcoholism cause spasmus nutans in offspring? ( 2300128 )
1990
32
Spasmus nutans. A quantitative prospective study. ( 3566606 )
1987
33
Spasmus nutans: a pediatric enigma. ( 3794163 )
1986
34
Near-evoked nystagmus in spasmus nutans. ( 3723297 )
1986
35
Atypical spasmus nutans as an initial sign of thalamic neoplasm. ( 3508712 )
1986
36
Spasmus nutans. A benign clinical entity? ( 3767683 )
1986
37
Spasmus nutans as a presenting sign of an arachnoid cyst. ( 3870654 )
1985
38
Spasmus nutans as a presenting sign of diencephalic syndrome. ( 4032143 )
1985
39
Spasmus nutans occurring with child abuse/neglect. ( 4045409 )
1985
40
Habitual head turning in spasmus nutans: an oculographic study. ( 3998973 )
1985
41
Spasmus nutans associated with optic gliomas in infants. ( 6502310 )
1984
42
Leigh's subacute necrotizing encephalomyelopathy manifesting as spasmus nutans. ( 6743083 )
1984
43
Optic glioma masquerading as spasmus nutans. ( 7069562 )
1982
44
Spasmus nutans in identical twins. ( 7198419 )
1981
45
Spasmus nutans or congenital nystagmus? Classification according to objective criteria. ( 7260026 )
1981
46
Spasmus nutans. ( 7436823 )
1980
47
Spasmus nutans: a mistaken identity. ( 7387467 )
1980
48
A study of head and eye movement in spasmus nutans. ( 990236 )
1976
49
Spasmus nutans: a syndrome of auto-arousal. ( 5101762 )
1971
50
Infantile nystagmus: a prospective study of spasmus nutans, and congenital nystagmus, and unclassified nystagmus of infancy. ( 5504065 )
1970

Variations for Spasmus Nutans

Expression for Spasmus Nutans

Search GEO for disease gene expression data for Spasmus Nutans.

Pathways for Spasmus Nutans

GO Terms for Spasmus Nutans

Sources for Spasmus Nutans

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....