Blepharospasm

Symptom Information:

Symptom ID: HPO:0000643
Synonyms:
Blepharospasm (disorder) [Orphanet:43260]
Blepharospasm [Orphanet:43260]
Blepharospasm [OMIM:Blepharospasm]
Dystonia/torticollis/writer's cramp/blepharospasms [Orphanet:43260]
Blepharospasm [MedDRA:10005159]
Spasm eyelid [MedDRA:10005159]
Eyelid twitching [MedDRA:10005159]
Blepharospasm (in some patients) [OMIM:Blepharospasm (in some patients)]
Eyelid twitching [OMIM:Eyelid twitching]
Quality:
Cross references:
Orphanet:43260 "Dystonia/torticollis/writer's cramp/blepharospasms" [Orphanet:43260]
OMIM: "Blepharospasm" [OMIM:Blepharospasm]
OMIM: "Blepharospasm (in some patients)" [OMIM:Blepharospasm (in some patients)]
OMIM: "Eyelid twitching" [OMIM:Eyelid twitching]
UMLS:C0005747 "Blepharospasm" [HPO:0000643]
UMLS:C0005747 "Blepharospasm" [Orphanet:43260]
Is a (Direct Parents):
MedDRA Ocular signs and symptoms NEC
Orphanet Abnormality of movement
HPO         Craniofacial dystonia
HPO         Abnormality of the eyelid
Orphanet Torticollis
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the nervous system(HPO:0000707)
          Abnormality of nervous system physiology(HPO:0012638)
             Abnormality of movement(HPO:0100022)
                Dystonia(HPO:0001332)
                   Focal dystonia(HPO:0004373)
                      Craniofacial dystonia(HPO:0012179)
                         Blepharospasm(HPO:0000643)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the face(HPO:0000271)
                Abnormality of the periorbital region(HPO:0000606)
                   Abnormality of the eyelid(HPO:0000492)
                      Blepharospasm(HPO:0000643)
                obsolete Abnormality of the ocular region(HPO:0000284)
                   Abnormality of the eyelid(HPO:0000492)
                      Blepharospasm(HPO:0000643)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Neurological disorders of the eye(MedDRA:10029301)
       Ocular signs and symptoms NEC(MedDRA:10030952)
          Blepharospasm(HPO:0000643)
Database Frequency: 20 / 7739
Resource:

All diseases associated with this symptom:

Aceruloplasminemia (Orphanet:48818)
Autosomal dominant cervical dystonia (Orphanet:93962)
Autosomal dominant focal dystonia, DYT7 type (Orphanet:93963)
Benign essential blepharospasm (Orphanet:93955)
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
DYSTONIA 24 (OMIM:615034)
Dyschromatosis symmetrica hereditaria (Orphanet:41)
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 (OMIM:616339)
Early-onset generalized limb-onset dystonia (Orphanet:256)
MELAS (Orphanet:550)
Mohr-Tranebjaerg syndrome (Orphanet:52368)
Neuroferritinopathy (Orphanet:157846)
Niemann-Pick disease type C (Orphanet:646)
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:606324)
Pantothenate kinase-associated neurodegeneration (Orphanet:157850)
Primary dystonia, DYT13 type (Orphanet:98807)
Primary dystonia, DYT2 type (Orphanet:99657)
Primary dystonia, DYT21 type (Orphanet:306734)
Tyrosinemia type 2 (Orphanet:28378)