Bilateral ptosis

Symptom Information:

Symptom ID: HPO:0001488
Synonyms:
Ptosis [Orphanet:7100]
Ptosis of eyelid (disorder) [Orphanet:7100]
Blepharoptosis [Orphanet:7100]
Bilateral ptosis [OMIM:Bilateral ptosis]
Eyelid ptosis [Orphanet:7100]
Eyelid ptosis [MedDRA:10015995]
Blepharoptosis [MedDRA:10015995]
Mechanical ptosis [MedDRA:10015995]
Myogenic ptosis [MedDRA:10015995]
Paralytic ptosis [MedDRA:10015995]
Ptosis [MedDRA:10015995]
Ptosis of eyelid [MedDRA:10015995]
Ptosis of eyelid, unspecified [MedDRA:10015995]
Blepharoptosis (in some patients) [OMIM:Blepharoptosis (in some patients)]
Ptosis (50%) [OMIM:Ptosis (50%)]
Ptosis (HCS) [OMIM:Ptosis (HCS)]
Ptosis (about half of patients) [OMIM:Ptosis (about half of patients)]
Ptosis (in some patients) [OMIM:Ptosis (in some patients)]
Ptosis (less common) [OMIM:Ptosis (less common)]
Ptosis (rare) [OMIM:Ptosis (rare)]
Ptosis (with longer disease duration) [OMIM:Ptosis (with longer disease duration)]
Ptosis, bilateral [OMIM:Ptosis, bilateral]
Ptosis, bilateral (in some patients) [OMIM:Ptosis, bilateral (in some patients)]
Quality:
Cross references:
HPO:0006136 "Bilateral postaxial polydactyly" [Orphanet:7100]
HPO:0000508 "Ptosis" [Orphanet:7100]
Orphanet:7100 "Ptosis" [Orphanet:7100]
OMIM: "Bilateral ptosis" [OMIM:Bilateral ptosis]
OMIM: "Blepharoptosis (in some patients)" [OMIM:Blepharoptosis (in some patients)]
OMIM: "Ptosis (50%)" [OMIM:Ptosis (50%)]
OMIM: "Ptosis (HCS)" [OMIM:Ptosis (HCS)]
OMIM: "Ptosis (about half of patients)" [OMIM:Ptosis (about half of patients)]
OMIM: "Ptosis (in some patients)" [OMIM:Ptosis (in some patients)]
OMIM: "Ptosis (less common)" [OMIM:Ptosis (less common)]
OMIM: "Ptosis (rare)" [OMIM:Ptosis (rare)]
OMIM: "Ptosis (with longer disease duration)" [OMIM:Ptosis (with longer disease duration)]
OMIM: "Ptosis, bilateral" [OMIM:Ptosis, bilateral]
OMIM: "Ptosis, bilateral (in some patients)" [OMIM:Ptosis, bilateral (in some patients)]
UMLS:C0033377 "Ptosis" [Orphanet:7100]
UMLS:C0005745 "Blepharoptosis" [Orphanet:7100]
Is a (Direct Parents):
MedDRA Ocular signs and symptoms NEC
HPO         Ptosis
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye physiology(HPO:0012373)
             Ptosis(HPO:0000508)
                Bilateral ptosis(HPO:0001488)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Neurological disorders of the eye(MedDRA:10029301)
       Ocular signs and symptoms NEC(MedDRA:10030952)
          Bilateral ptosis(HPO:0001488)
Database Frequency: 42 / 7739
Resource:

All diseases associated with this symptom:

2p21 microdeletion syndrome (Orphanet:163693)
3q13 microdeletion syndrome (Orphanet:1621)
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (Orphanet:329314)
Atypical hypotonia - cystinuria syndrome (Orphanet:238523)
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome (Orphanet:363429)
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (Orphanet:324262)
Autosomal recessive spastic paraplegia type 7 (Orphanet:99013)
CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE (OMIM:214980)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Congenital fibrosis of extraocular muscles (Orphanet:45358)
DEND syndrome (Orphanet:79134)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (Orphanet:2229)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 (OMIM:135700)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 (OMIM:602078)
Gaucher disease type 2 (Orphanet:77260)
Glycogen storage disease due to acid maltase deficiency, late-onset (Orphanet:420429)
Glycogen storage disease due to glycogen branching enzyme deficiency (Orphanet:367)
Hypotonia - cystinuria syndrome (Orphanet:163690)
Isolated plagiocephaly (Orphanet:35098)
Kearns-Sayre syndrome (Orphanet:480)
Koolen-De Vries syndrome (Orphanet:96169)
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate (Orphanet:314051)
MELAS (Orphanet:550)
MUNGAN SYNDROME (OMIM:611376)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 (OMIM:615351)
MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Maternally-inherited diabetes and deafness (Orphanet:225)
Mitochondrial DNA deletion syndrome with progressive myopathy (Orphanet:352470)
Mowat-Wilson syndrome (Orphanet:2152)
Mucopolysaccharidosis type 2 (Orphanet:580)
Myopathy, lactic acidosis, and sideroblastic anemia 2; MLASA2 (OMIM:613561)
Necrotizing encephalomyelopathy, subacute, of Leigh, adult (OMIM:161700)
Noonan syndrome (Orphanet:648)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 5 (OMIM:613077)
Permanent neonatal diabetes mellitus (Orphanet:99885)
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome (Orphanet:306558)
Ptosis - vocal cord paralysis (Orphanet:2997)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Spinocerebellar ataxia type 28 (Orphanet:101109)
WERNICKE-KORSAKOFF SYNDROME (OMIM:277730)
Wolfram syndrome 1 (OMIM:222300)