Details of Disease | DrugMAP

General Information of Disease (ID: DISOWC5W)

Disease Name	Benign paroxysmal torticollis of infancy
Definition	Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterized by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children.
Disease Hierarchy	DISV0MSQ: Paroxysmal dystonia DISOWC5W: Benign paroxysmal torticollis of infancy
Disease Identifiers	MONDO ID MONDO_0019113 UMLS CUI C3494934 MedGen ID 782128 Orphanet ID 71518 SNOMED CT ID 719521002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CACNA1A	TTX4QDJ	Strong	GermlineCausalMutation	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
CACNA1A	DTYKGPB	Supportive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CACNA1A	OTY08SIX	Supportive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation. Dev Med Child Neurol. 2002 Jul;44(7):490-3. doi: 10.1017/s0012162201002407.