Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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:
Focal dystonia (HP:0004373)

Parent Node:
Abnormal eyelid morphology (HP:0000492)

Parent Node:
Craniofacial dystonia (HP:0012179)

..Starting node
..Blepharospasm (HP:0000643)

Term ID:

643

Name:

Blepharospasm

Synonym:

Eyelid spasm; Eyelid twitching; Involuntary closure of eyelid; Spontaneous closure of eyelid

Definition:

A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.

Comments:

Reference:

HP:0000643

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lingual dystonia (HP:0031008)

Orofacial action-specific dystonia induced by speech (HP:0031007)

Oromandibular dystonia (HP:0012048)

Torticollis (HP:0000473)

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:0000643	HP:0000643	Blepharospasm	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29	.
HP:0000643	HP:0000643	Blepharospasm	0	ANO3 CL E G H	63982	14004	ORPHA:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement	HP:0040282 - Frequent	17
HP:0000643	HP:0000643	Blepharospasm	0	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24	HP:0040283 - Occasional	17
HP:0000643	HP:0000643	Blepharospasm	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040283 - Occasional	16
HP:0000643	HP:0000643	Blepharospasm	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional	100
HP:0000643	HP:0000643	Blepharospasm	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040283 - Occasional	449
HP:0000643	HP:0000643	Blepharospasm	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0000643	HP:0000643	Blepharospasm	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040283 - Occasional	115
HP:0000643	HP:0000643	Blepharospasm	0	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA	.	115
HP:0000643	HP:0000643	Blepharospasm	0	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional	1
HP:0000643	HP:0000643	Blepharospasm	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0000643	HP:0000643	Blepharospasm	0	DRD5 CL E G H	1816	3026	OMIM:606798	Blepharospasm, benign essential, susceptibility to	.	3
HP:0000643	HP:0000643	Blepharospasm	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	175
HP:0000643	HP:0000643	Blepharospasm	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	145
HP:0000643	HP:0000643	Blepharospasm	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.	33
HP:0000643	HP:0000643	Blepharospasm	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040283 - Occasional	33
HP:0000643	HP:0000643	Blepharospasm	0	HPCA CL E G H	3208	5144	OMIM:224500	Dystonia 2, torsion, autosomal recessive	.	4
HP:0000643	HP:0000643	Blepharospasm	0	HPCA CL E G H	3208	5144	ORPHA:99657	Primary dystonia, DYT2 type	HP:0040282 - Frequent	4
HP:0000643	HP:0000643	Blepharospasm	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0000643	HP:0000643	Blepharospasm	0	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic	.	1
HP:0000643	HP:0000643	Blepharospasm	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0000643	HP:0000643	Blepharospasm	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent	140
HP:0000643	HP:0000643	Blepharospasm	0	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040284 - Very rare	140
HP:0000643	HP:0000643	Blepharospasm	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities		6
HP:0000643	HP:0000643	Blepharospasm	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0000643	HP:0000643	Blepharospasm	0	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7		23
HP:0000643	HP:0000643	Blepharospasm	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0000643	HP:0000643	Blepharospasm	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0000643	HP:0000643	Blepharospasm	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0000643	HP:0000643	Blepharospasm	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0000643	HP:0000643	Blepharospasm	0	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2	.
HP:0000643	HP:0000643	Blepharospasm	0	TAF1 CL E G H	6872	11535	ORPHA:53351	X-linked dystonia-parkinsonism	HP:0040282 - Frequent	21
HP:0000643	HP:0000643	Blepharospasm	0	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional	271
HP:0000643	HP:0000643	Blepharospasm	0	TBP CL E G H	6908	11588	ORPHA:98759	Spinocerebellar ataxia type 17	HP:0040282 - Frequent	7
HP:0000643	HP:0000643	Blepharospasm	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140
HP:0000643	HP:0000643	Blepharospasm	0	THAP1 CL E G H	55145	20856	ORPHA:98806	Primary dystonia, DYT6 type	HP:0040283 - Occasional	42
HP:0000643	HP:0000643	Blepharospasm	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant	.	47
HP:0000643	HP:0000643	Blepharospasm	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040283 - Occasional	66
HP:0000643	HP:0000643	Blepharospasm	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	18
HP:0000643	HP:0000643	Blepharospasm	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130

Genes (35) :AARS1 ANO3 ATN1 ATP13A2 CACNA1A CHN1 CP CPLX1 DDC DRD5 FGFR2 FGFR3 FTL HPCA HSPG2 KCTD17 MAFB MAPT MECR PANK2 PARK7 POLR1B POLR1C POLR1D SALL4 STARD7 TAF1 TBC1D24 TBP TCOF1 THAP1 TOR1A TUBB4A TWIST1 VPS13A

Diseases (32) :OMIM:616339 ORPHA:420485 OMIM:615034 ORPHA:101 ORPHA:306674 ORPHA:98758 ORPHA:233 ORPHA:48818 OMIM:604290 ORPHA:352582 OMIM:608643 OMIM:606798 ORPHA:794 OMIM:606159 ORPHA:157846 OMIM:224500 ORPHA:99657 ORPHA:800 OMIM:616398 ORPHA:240071 ORPHA:240094 OMIM:617282 OMIM:234200 OMIM:606324 ORPHA:861 OMIM:607876 ORPHA:53351 ORPHA:98759 ORPHA:98806 OMIM:128100 ORPHA:98805 ORPHA:2388

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen