Human Phenotype Ontology 
Grandparent Node:
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Focal dystonia (HP:0004373)help
Parent Node:
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Abnormal eyelid morphology (HP:0000492)help
Parent Node:
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Craniofacial dystonia (HP:0012179)help
..Starting node
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Blepharospasm (HP:0000643)help
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: 
..expandLingual dystonia (HP:0031008) help
..expandOrofacial action-specific dystonia induced by speech (HP:0031007) help
..expandOromandibular dystonia (HP:0012048) help
..expandTorticollis (HP:0000473) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000643HP:0000643Blepharospasm0AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0000643HP:0000643Blepharospasm0ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM178282104260
HP:0000643HP:0000643Blepharospasm0ADRA2B CL E G H151607876Epilepsy, familial adult myoclonic 2607876C1842852OMIM175282104260
HP:0000643HP:0000643Blepharospasm0ANO3 CL E G H63982420485ORPHA130714004610110
HP:0000643HP:0000643Blepharospasm0ANO3 CL E G H63982420485ORPHA132714004610110
HP:0000643HP:0000643Blepharospasm0CP CL E G H135648818ORPHA15712295117700
HP:0000643HP:0000643Blepharospasm0CP CL E G H135648818ORPHA14662295117700
HP:0000643HP:0000643Blepharospasm0FGFR2 CL E G H2263794ORPHA15013689176943
HP:0000643HP:0000643Blepharospasm0FGFR2 CL E G H2263794ORPHA14663689176943
HP:0000643HP:0000643Blepharospasm0FGFR3 CL E G H2261794ORPHA15423690134934
HP:0000643HP:0000643Blepharospasm0FGFR3 CL E G H2261794ORPHA15413690134934
HP:0000643HP:0000643Blepharospasm0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11383999134790
HP:0000643HP:0000643Blepharospasm0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11093999134790
HP:0000643HP:0000643Blepharospasm0HPCA CL E G H320899657ORPHA1275144142622
HP:0000643HP:0000643Blepharospasm0HPCA CL E G H3208224500Dystonia 2, torsion, autosomal recessive224500C1857093OMIM1275144142622
HP:0000643HP:0000643Blepharospasm0KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM18625705616386
HP:0000643HP:0000643Blepharospasm0KCTD17 CL E G H79734616398Dystonia 26, myoclonic616398C4225341OMIM17825705616386
HP:0000643HP:0000643Blepharospasm0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM126315894606157
HP:0000643HP:0000643Blepharospasm0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM133115894606157
HP:0000643HP:0000643Blepharospasm0PARK7 CL E G H11315606324Parkinson disease 7606324C1853445OMIM113916369602533
HP:0000643HP:0000643Blepharospasm0PARK7 CL E G H11315606324Parkinson disease 7606324C1853445OMIM115216369602533
HP:0000643HP:0000643Blepharospasm0TAF1 CL E G H687253351ORPHA132111535313650
HP:0000643HP:0000643Blepharospasm0TAF1 CL E G H687253351ORPHA130211535313650
HP:0000643HP:0000643Blepharospasm0TBP CL E G H690898759ORPHA110611588600075
HP:0000643HP:0000643Blepharospasm0TBP CL E G H690898759ORPHA110211588600075
HP:0000643HP:0000643Blepharospasm0TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM11613098605204
HP:0000643HP:0000643Blepharospasm0TOR1A CL E G H1861128100Dystonia 1128100C1851945OMIM11563098605204
HP:0000643HP:0000643Blepharospasm0TWIST1 CL E G H7291794ORPHA116312428601622
HP:0000643HP:0000643Blepharospasm0TWIST1 CL E G H7291794ORPHA114212428601622
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000643HP:0000643Blepharospasm0ANO3 CL E G H63982615034Dystonia 24615034C3554374OMIM030714004610110
HP:0000643HP:0000643Blepharospasm0ANO3 CL E G H63982615034Dystonia 24615034C3554374OMIM032714004610110
HP:0000643HP:0000643Blepharospasm0ATN1 CL E G H1822101ORPHA01033033607462
HP:0000643HP:0000643Blepharospasm0ATN1 CL E G H1822101ORPHA0963033607462
HP:0000643HP:0000643Blepharospasm0ATP13A2 CL E G H23400306674ORPHA060930213610513
HP:0000643HP:0000643Blepharospasm0ATP13A2 CL E G H23400306674ORPHA048730213610513
HP:0000643HP:0000643Blepharospasm0CACNA1A CL E G H77398758ORPHA023261388601011
HP:0000643HP:0000643Blepharospasm0CACNA1A CL E G H77398758ORPHA020471388601011
HP:0000643HP:0000643Blepharospasm0CHN1 CL E G H1123233D ercole syndromeORPHA01171943118423
HP:0000643HP:0000643Blepharospasm0CHN1 CL E G H1123233D ercole syndromeORPHA01161943118423
HP:0000643HP:0000643Blepharospasm0COL25A1 CL E G H84570233D ercole syndromeORPHA04618603610004
HP:0000643HP:0000643Blepharospasm0COL25A1 CL E G H84570233D ercole syndromeORPHA04318603610004
HP:0000643HP:0000643Blepharospasm0HSPG2 CL E G H3339800ORPHA016005273142461
HP:0000643HP:0000643Blepharospasm0HSPG2 CL E G H3339800ORPHA013275273142461
HP:0000643HP:0000643Blepharospasm0MAFB CL E G H9935233D ercole syndromeORPHA01126408608968
HP:0000643HP:0000643Blepharospasm0MAFB CL E G H9935233D ercole syndromeORPHA01056408608968
HP:0000643HP:0000643Blepharospasm0POLR1C CL E G H9533861ORPHA0113120194610060
HP:0000643HP:0000643Blepharospasm0POLR1C CL E G H9533861ORPHA0101920194610060
HP:0000643HP:0000643Blepharospasm0POLR1D CL E G H51082861ORPHA08220422613715
HP:0000643HP:0000643Blepharospasm0POLR1D CL E G H51082861ORPHA07920422613715
HP:0000643HP:0000643Blepharospasm0SCN4A CL E G H632999734ORPHA0108110591603967
HP:0000643HP:0000643Blepharospasm0SCN4A CL E G H632999734ORPHA0124110591603967
HP:0000643HP:0000643Blepharospasm0TCOF1 CL E G H6949861ORPHA043811654606847
HP:0000643HP:0000643Blepharospasm0TCOF1 CL E G H6949861ORPHA038711654606847
HP:0000643HP:0000643Blepharospasm0THAP1 CL E G H5514598806ORPHA017120856609520
HP:0000643HP:0000643Blepharospasm0THAP1 CL E G H5514598806ORPHA016520856609520
HP:0000643HP:0000643Blepharospasm0TUBB4A CL E G H1038298805ORPHA018120774602662
HP:0000643HP:0000643Blepharospasm0TUBB4A CL E G H1038298805ORPHA016820774602662


Genes (28) :AARS ADRA2B ANO3 ATN1 ATP13A2 CACNA1A CHN1 COL25A1 CP FGFR2 FGFR3 FTL HPCA HSPG2 KCTD17 MAFB PANK2 PARK7 POLR1C POLR1D SCN4A TAF1 TBP TCOF1 THAP1 TOR1A TUBB4A TWIST1

Diseases (24) :616339 607876 420485 615034 101 306674 98758 233 48818 794 606159 99657 224500 800 616398 234200 606324 861 99734 53351 98759 98806 128100 98805
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.