MCID: BNG078
MIFTS: 16

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 59

Characteristics:

Orphanet epidemiological data:

59
benign paroxysmal torticollis of infancy
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
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 ataxia and vomiting

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:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
2 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
3 pallor 59 32 frequent (33%) Frequent (79-30%) HP:0000980
4 irritability 59 32 frequent (33%) Frequent (79-30%) HP:0000737
5 migraine 59 32 frequent (33%) Frequent (79-30%) HP:0002076
6 vertigo 59 32 frequent (33%) Frequent (79-30%) HP:0002321
7 torticollis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000473
8 apathy 59 32 frequent (33%) Frequent (79-30%) HP:0000741
9 drowsiness 59 32 frequent (33%) Frequent (79-30%) HP:0002329
10 abnormal head movements 59 32 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 Genetics of Benign Paroxysmal Torticollis of Infancy: Is There an Association With Mutations in the CACNA1A Gene? ( 26961263 )
2016
3
The Efficacy of Topiramate in Benign Paroxysmal Torticollis of Infancy: Report of Four Cases. ( 26956101 )
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 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
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