MCID: BNG078
MIFTS: 17

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 58

Characteristics:

Orphanet epidemiological data:

58
benign paroxysmal torticollis of infancy
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Benign Paroxysmal Torticollis of Infancy

MalaCards based summary : Benign Paroxysmal Torticollis of Infancy is related to torticollis and migraine with or without aura 1. An important gene associated with Benign Paroxysmal Torticollis of Infancy is CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A). Related phenotypes are torticollis 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 10.7
2 migraine with or without aura 1 10.6
3 ataxia and polyneuropathy, adult-onset 10.5
4 familial hemiplegic migraine 10.3
5 episodic ataxia 10.3
6 paroxysmal dyskinesia 10.3
7 cervical dystonia 10.1
8 dystonia 10.1
9 headache 10.1

Graphical network of the top 20 diseases related to Benign Paroxysmal Torticollis of Infancy:



Diseases related to Benign Paroxysmal Torticollis of Infancy

Symptoms & Phenotypes for Benign Paroxysmal Torticollis of Infancy

Human phenotypes related to Benign Paroxysmal Torticollis of Infancy:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 torticollis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000473
2 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
3 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
4 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
5 pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000980
6 vertigo 58 31 frequent (33%) Frequent (79-30%) HP:0002321
7 migraine 58 31 frequent (33%) Frequent (79-30%) HP:0002076
8 apathy 58 31 frequent (33%) Frequent (79-30%) HP:0000741
9 drowsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002329
10 abnormal head movements 58 31 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:

(show all 17)
# Title Authors PMID Year
1
Benign paroxysmal torticollis of infancy does not lead to neurological sequelae. 61
29956301 2018
2
Benign paroxysmal migraine variants of infancy and childhood: Transitions and clinical features. 61
29656928 2018
3
The Genetics of Benign Paroxysmal Torticollis of Infancy: Is There an Association With Mutations in the CACNA1A Gene? 61
26961263 2016
4
The Efficacy of Topiramate in Benign Paroxysmal Torticollis of Infancy: Report of Four Cases. 61
26956101 2016
5
Benign paroxysmal torticollis of infancy: An underdiagnosed condition. 61
25644090 2015
6
Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A. 61
25596066 2015
7
Pediatric migraine and episodic syndromes that may be associated with migraine. 61
25928129 2014
8
Migraine equivalents in childhood. 61
24092892 2014
9
A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy. 61
24445160 2014
10
Paroxysmal movement disorders and episodic ataxias. 61
23622292 2013
11
The neurology of benign paroxysmal torticollis of infancy: report of 10 new cases and review of the literature. 61
19182151 2009
12
Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes. 61
18644040 2008
13
Benign paroxysmal torticollis of infancy. A case report. 61
17008863 2006
14
[Benign paroxysmal torticollis of infancy: diagnosis and clinical evolution of six patients]. 61
17057895 2006
15
Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation. 61
12162387 2002
16
Benign paroxysmal torticollis of infancy. 61
10814899 2000
17
Benign paroxysmal torticollis of infancy. 61
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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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