Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal facial expression (HP:0005346)

Parent Node:
Disturbance of facial expression (HP:0005324)

..Starting node
..Facial tics (HP:0011468)

Term ID:

11468

Name:

Facial tics

Synonym:

Cramping of facial muscles; Facial spasms; Facial tics; Involuntary facial muscle spasms; Jerking of facial muscles; Mimic spasms; Muscle spasm of face; Myoclonus of facial muscles; Spasms of facial muscles; Twitching of facial muscles

Definition:

Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face.

Comments:

Reference:

HP:0011468

Genes and Diseases:

Child Nodes:

Sister Nodes:

Facial grimacing (HP:0000273)

Risus sardonicus (HP:0040212)

Sleepy facial expression (HP:0005335)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011468	HP:0011468	Facial tics	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	239
HP:0011468	HP:0011468	Facial tics	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	449
HP:0011468	HP:0011468	Facial tics	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	134
HP:0011468	HP:0011468	Facial tics	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	139
HP:0011468	HP:0011468	Facial tics	0	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040283 - Occasional	528
HP:0011468	HP:0011468	Facial tics	0	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040283 - Occasional	302
HP:0011468	HP:0011468	Facial tics	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	225
HP:0011468	HP:0011468	Facial tics	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0011468	HP:0011468	Facial tics	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.	60
HP:0011468	HP:0011468	Facial tics	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent	60
HP:0011468	HP:0011468	Facial tics	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	94
HP:0011468	HP:0011468	Facial tics	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	1053
HP:0011468	HP:0011468	Facial tics	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	1053
HP:0011468	HP:0011468	Facial tics	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	126
HP:0011468	HP:0011468	Facial tics	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	427
HP:0011468	HP:0011468	Facial tics	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	318

Genes (14) :ATP1A2 CACNA1A GABRA1 GABRG2 KCNQ2 KCNQ3 PCDH19 PLA2G6 PNPT1 PRRT2 SCN1A SCN1B SCN2A SCN9A

Diseases (6) :ORPHA:569 ORPHA:33069 ORPHA:1949 OMIM:612953 OMIM:608703 ORPHA:101111

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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