MCID: BNG078
MIFTS: 15

Benign Paroxysmal Torticollis of Infancy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Benign Paroxysmal Torticollis of Infancy

MalaCards integrated aliases for Benign Paroxysmal Torticollis of Infancy:

Name: Benign Paroxysmal Torticollis of Infancy 60

Characteristics:

Orphanet epidemiological data:

60
benign paroxysmal torticollis of infancy
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Benign Paroxysmal Torticollis of Infancy

MalaCards based summary : Benign Paroxysmal Torticollis of Infancy is related to torticollis. An important gene associated with Benign Paroxysmal Torticollis of Infancy is CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A). Related phenotypes are torticollis and ataxia

Related Diseases for Benign Paroxysmal Torticollis of Infancy

Diseases related to Benign Paroxysmal Torticollis of Infancy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 torticollis 10.6

Symptoms & Phenotypes for Benign Paroxysmal Torticollis of Infancy

Human phenotypes related to Benign Paroxysmal Torticollis of Infancy:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 torticollis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000473
2 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
3 vomiting 60 33 frequent (33%) Frequent (79-30%) HP:0002013
4 pallor 60 33 frequent (33%) Frequent (79-30%) HP:0000980
5 irritability 60 33 frequent (33%) Frequent (79-30%) HP:0000737
6 migraine 60 33 frequent (33%) Frequent (79-30%) HP:0002076
7 vertigo 60 33 frequent (33%) Frequent (79-30%) HP:0002321
8 drowsiness 60 33 frequent (33%) Frequent (79-30%) HP:0002329
9 apathy 60 33 frequent (33%) Frequent (79-30%) HP:0000741
10 abnormal head movements 60 33 frequent (33%) Frequent (79-30%) HP:0002457

Drugs & Therapeutics for Benign Paroxysmal Torticollis of Infancy

Search Clinical Trials , NIH Clinical Center for Benign Paroxysmal Torticollis of Infancy

Genetic Tests for Benign Paroxysmal Torticollis of Infancy

Anatomical Context for Benign Paroxysmal Torticollis of Infancy

Publications for Benign Paroxysmal Torticollis of Infancy

Articles related to Benign Paroxysmal Torticollis of Infancy:

# Title Authors Year
1
Benign paroxysmal torticollis of infancy does not lead to neurological sequelae. ( 29956301 )
2018
2
The Efficacy of Topiramate in Benign Paroxysmal Torticollis of Infancy: Report of Four Cases. ( 26956101 )
2016
3
The Genetics of Benign Paroxysmal Torticollis of Infancy: Is There an Association With Mutations in the CACNA1A Gene? ( 26961263 )
2016
4
Benign paroxysmal torticollis of infancy: An underdiagnosed condition. ( 25644090 )
2015
5
A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy. ( 24445160 )
2014
6
The neurology of benign paroxysmal torticollis of infancy: report of 10 new cases and review of the literature. ( 19182151 )
2009
7
Benign paroxysmal torticollis of infancy. A case report. ( 17008863 )
2006
8
Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation. ( 12162387 )
2002
9
Benign paroxysmal torticollis of infancy. ( 10814899 )
2000
10
Benign paroxysmal torticollis of infancy. ( 1587900 )
1992

Variations for Benign Paroxysmal Torticollis of Infancy

Expression for Benign Paroxysmal Torticollis of Infancy

Search GEO for disease gene expression data for Benign Paroxysmal Torticollis of Infancy.

Pathways for Benign Paroxysmal Torticollis of Infancy

GO Terms for Benign Paroxysmal Torticollis of Infancy

Sources for Benign Paroxysmal Torticollis of Infancy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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