MCID: PTS002
MIFTS: 39

Ptosis malady

Genetic diseases, Eye diseases, Rare diseases categories

Summaries for Ptosis

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Wikipedia:63 Ptosis (from the Greek word ?????? \"falling\", \"a fall\") refers to droopiness of a body part.... more...

MalaCards based summary: Ptosis, also known as blepharoptosis, is related to blepharophimosis and premature ovarian failure. An important gene associated with Ptosis is FOXL2 (forkhead box L2). Affiliated tissues include eye, testes and pituitary, and related mouse phenotypes are craniofacial and no phenotypic analysis.

Disease Ontology:9 An eye disease characterized by the drooping or falling of the upper or lower eyelid.

Aliases & Classifications for Ptosis

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Sources:
9Disease Ontology, 60UMLS, 43Novoseek, 27ICD9CM, 33MeSH
See all sources

Ptosis, Aliases & Descriptions:

Name: Ptosis 9 60
Blepharoptosis 9 43
 
Drooping Eyelid 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases


External Ids:

Disease Ontology9 DOID:0060260
ICD9CM27 374.3
MeSH33 D001763

Related Diseases for Ptosis

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Diseases in the Ptosis family:

Ptosis, Hereditary Congenital 2 Ptosis, Congenital
Hereditary Congenital Ptosis

Diseases related to Ptosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 539)
idRelated DiseaseScoreTop Affiliating Genes
1blepharophimosis30.6UBE3B, FOXL2, FOXP2, MRPS22
2premature ovarian failure29.7FOXL2, FOXP2
3blepharophimosis, epicanthus inversus, and ptosis, type 110.6
4ophthalmoplegia10.4
5mental retardation10.4
6ptosis, congenital10.4
7deafness conductive ptosis skeletal anomalies10.3
8blepharophimosis with ptosis, syndactyly, and short stature10.3
9baraitser-winter syndrome10.3
10microbrachycephaly ptosis cleft lip10.3
11oculopharyngeal muscular dystrophy10.2
12microcephaly10.2
13coloboma10.2
14muscular dystrophy10.2
15ptosis strabismus ectopic pupils10.2
16diabetic neuropathy10.2
17bell's palsy10.2
18brown-vialetto-van laere syndrome10.2
19botulism10.2
20trigeminal autonomic cephalalgia10.2
21aniridia10.2
22blepharophimosis-ptosis-intellectual disability syndrome10.2
23chronic progressive external ophthalmoplegia10.2
24tucker syndrome10.2
25horner's syndrome10.2
26amblyopia10.2
27strabismus10.2
28ascher's syndrome10.2
29marcus gunn phenomenon10.2
30lymphedema-distichiasis syndrome10.1
31ptosis, hereditary congenital 210.1
32myasthenia gravis10.1
33kearns-sayre syndrome10.1
34blepharospasm10.1
35cysticercosis10.1
36ectropion10.1
37hereditary congenital ptosis10.1
38aniridia - ptosis - intellectual disability - familial obesity10.1
39blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion10.1
40ptosis - upper ocular movement limitation - absence of lacrimal punctum10.1
41enophthalmos10.1
423mc syndrome10.1
43coffin-siris syndrome10.1
44mesomelia-synostoses syndrome10.1
45codas syndrome10.1
46goldberg-shprintzen megacolon syndrome10.1
47spinal muscular atrophy, x-linked 2, infantile10.1
48pituitary apoplexy10.1
49infant botulism10.1
50brachydactyly10.1

Graphical network of the top 20 diseases related to Ptosis:



Diseases related to ptosis

Symptoms for Ptosis

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Drugs & Therapeutics for Ptosis

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Drug clinical trials:

Search ClinicalTrials for Ptosis

Search NIH Clinical Center for Ptosis

Genetic Tests for Ptosis

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Anatomical Context for Ptosis

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MalaCards organs/tissues related to Ptosis:

31
Eye, Testes, Pituitary, Breast, Skin

Animal Models for Ptosis or affiliated genes

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MGI Mouse Phenotypes related to Ptosis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.6UBE3B, FOXF2, FOXP2
2MP:00030128.5FOXP2, FOXF2, FOXL2
3MP:00053918.2UBE3B, FOXL2, FOXF2, FOXP2
4MP:00053768.2UBE3B, FOXL2, FOXF2, FOXP2
5MP:00053787.9UBE3B, FOXL2, FOXF2, FOXP2

Publications for Ptosis

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Articles related to Ptosis:

(show top 50)    (show all 308)
idTitleAuthorsYear
1
Recurrent ptosis in a patient with blepharochalasis: clinical and histopathologic findings. (25569415)
2015
2
Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy. (25556389)
2015
3
Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion. (24725350)
2014
4
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. (24458743)
2014
5
Progressive bilateral ptosis in a patient with midbrain metastasis and chronic inflammatory demyelinating polyradiculoneuropathy. (24594646)
2014
6
Unilateral ptosis as the initial sign of multiple myeloma. (25311443)
2014
7
Bilateral ptosis with wall-eyed bilateral internuclear ophthalmoplegia and vertical gaze paralysis. (24870222)
2014
8
Headache and ptosis for four months: potential mimickers of intraparenchymal hemorrhage. (25355503)
2014
9
Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. (24212221)
2013
10
Steroid-resistant extranodal rosai-dorfman disease of cheek mass and ptosis treated with radiation therapy. (23738161)
2013
11
Accuracy of the ice test in the diagnosis of myasthenia gravis in patients with ptosis. (23536427)
2013
12
Increased levator muscle function by supramaximal resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (23044971)
2012
13
Lyme disease presenting as ptosis, conjunctivitis, and photophobia. (21224251)
2012
14
Upper lid entropion post ptosis correction: is tarsal buckling the cause? (22758211)
2012
15
Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (21321671)
2011
16
Cysticercosis of midbrain presenting with fluctuating ptosis. (22028538)
2011
17
Blepharophimosis-ptosis-epicanthus inversus syndrome. (21696507)
2011
18
Deletion and mutation analysis to FOXL2 in blepharophimosis-ptosis-epicanthus inversus syndrome]. (21055199)
2010
19
c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient. (20186799)
2010
20
FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome. (20184535)
2010
21
Ptosis and cranial nerve IV palsy reveal juvenile myasthenia gravis. (19545846)
2009
22
Giant eccrine hidrocystoma presenting with unilateral ptosis and epiphora. (17922081)
2008
23
Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations. (18546343)
2008
24
Anterior uveitis, poliosis, and skin hypopigmentation associated with topical chloramphenicol allergy following ptosis surgery. (17667109)
2007
25
Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (16454982)
2006
26
Premature menopause in association with blepharophimosis, ptosis, and epicanthus inversus. (16147759)
2005
27
Cat scratch disease: an unusual cause of facial palsy and partial ptosis: case report. (15944991)
2005
28
Jaw-winking ptosis in a patient with Kabuki syndrome. (15609525)
2004
29
FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients. (12567411)
2003
30
Blepharophimosis: a recommendation for early surgery in patients with severe ptosis. (12648048)
2003
31
Exoftalmos and palpebral ptosis in the immunocompromised patient]. (12848603)
2003
32
Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD. (12207929)
2002
33
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. (11175783)
2001
34
Lid retractors desinsertion in acquired ptosis and involutional lower lid entropion: surgical implications. (11417323)
2001
35
Ptosis, blepharospasm, and apraxia of eyelid opening secondary to putaminal hemorrhage. (10449142)
1999
36
Hypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome. (9762009)
1998
37
Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene. (9727204)
1998
38
Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. (7545868)
1995
39
Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome. (7519949)
1994
40
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23. (8291545)
1993
41
Ptosis, coloboma, hypertelorism and mental retardation. (8471225)
1993
42
Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome? (8305965)
1993
43
Muller's muscle-conjunctival resection procedure in the treatment of ptosis in Horner's syndrome. (2330204)
1990
44
Iris coloboma, ptosis, hypertelorism, and mental retardation. (2918534)
1989
45
Treatment of ptosis in chronic progressive external ophthalmoplegia. (3580341)
1987
46
Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis. (3631139)
1987
47
Management of ipsilateral ptosis with hypotropia. (3096370)
1986
48
Ptosis with blepharophimosis and epicanthus inversus. (3697568)
1986
49
Locked-in syndrome with bilateral ptosis: combination of bilateral horizontal pontine gaze paralysis and nuclear oculomotor nerve paralysis. (4078603)
1985
50
Bilateral ptosis and atypical slant eyes associated with unilateral syndactyly, adactyly and brachyphalangia. (20246987)
1946

Variations for Ptosis

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Expression for genes affiliated with Ptosis

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Search GEO for disease gene expression data for Ptosis.

Pathways for genes affiliated with Ptosis

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Compounds for genes affiliated with Ptosis

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GO Terms for genes affiliated with Ptosis

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Cellular components related to Ptosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056679.2FOXL2, FOXF2
2nucleusGO:00056347.3UBE3B, FOXL2, FOXF2, FOXP2, ZFHX4

Biological processes related to Ptosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1pattern specification processGO:00073899.4FOXL2, FOXP2
2negative regulation of transcription, DNA-templatedGO:00458928.3FOXL2, FOXF2, FOXP2

Molecular functions related to Ptosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor bindingGO:00081349.2FOXF2, FOXL2
2DNA binding, bendingGO:00083019.1FOXP2, FOXL2
3sequence-specific DNA bindingGO:00435658.1ZFHX4, FOXP2, FOXF2, FOXL2
4sequence-specific DNA binding transcription factor activityGO:00037008.0FOXL2, ZFHX4, FOXP2, FOXF2

Products for genes affiliated with Ptosis

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Sources for Ptosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet