Details of Disease

General Information of Disease (ID: DISJZNIY)

Disease Name Ptosis
Synonyms ptosis (disease); ptosis; eyelid ptosis; drooping eyelid; blepharoptosis
Definition The drooping of the upper eyelid.
Disease Hierarchy
DISB52BH: Eye disorder
DISJZNIY: Ptosis
Disease Identifiers
MONDO ID
MONDO_0000728
MESH ID
D001763
UMLS CUI
C0005745
MedGen ID
2287
HPO ID
HP:0000508
SNOMED CT ID
11934000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 8 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TWIST1 TTX1MY7 Limited Genetic Variation [1]
BRPF1 TTT46BN moderate Biomarker [2]
CREBBP TTFRCTK moderate Genetic Variation [3]
ACTG1 TTGAZF9 Strong Genetic Variation [4]
ADRA1D TT34BHT Strong Biomarker [5]
DNM2 TTVRA5G Strong Genetic Variation [6]
FOXC2 TTLBAP1 Strong Genetic Variation [7]
TYMP TTO0IB8 Strong Genetic Variation [8]
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⏷ Show the Full List of 8 DTT(s)
This Disease Is Related to 29 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KIF21A OT511XD9 Limited Genetic Variation [9]
MBD5 OTFHT4MO moderate Biomarker [10]
RBM19 OT3Q6UIM moderate Biomarker [10]
SOS1 OTTCWXC3 moderate CausalMutation [11]
ACSL3 OT3MWER1 Strong Genetic Variation [12]
ACTB OT1MCP2F Strong Genetic Variation [4]
ADNP OTEGICWR Strong Genetic Variation [13]
AFG3L2 OTRPMAUX Strong Genetic Variation [14]
CHMP1B OTP715L8 Strong Genetic Variation [15]
CNTNAP1 OT5Y03EU Strong Genetic Variation [16]
DNA2 OT4DJFFU Strong Genetic Variation [17]
DOK7 OTR2V7HO Strong Biomarker [18]
ECEL1 OTJ6GNUP Strong Genetic Variation [19]
EIF3K OTGTKVGO Strong Biomarker [20]
FOXL2 OTFRQUYL Strong Genetic Variation [21]
NIPBL OTF6OOLU Strong Biomarker [22]
OMG OTXA5C6L Strong Genetic Variation [23]
PABPN1 OT3MC5SE Strong Genetic Variation [24]
PAX6 OTOC9876 Strong Genetic Variation [25]
PAX7 OTDMQRPO Strong Biomarker [26]
PHOX2A OTVS3R2X Strong Genetic Variation [27]
POLG2 OTDBMZJB Strong Genetic Variation [28]
RAD21 OTQS84ZF Strong Genetic Variation [29]
RIT1 OTVNOGOH Strong Genetic Variation [30]
SCO2 OTJQQDRS Strong Genetic Variation [8]
SIX2 OTYOVGSC Strong Biomarker [31]
STAC3 OTPY3BGK Strong Genetic Variation [32]
TCOF1 OT4BOYTM Strong Biomarker [33]
TK2 OTS1V4XB Strong Genetic Variation [34]
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⏷ Show the Full List of 29 DOT(s)

References

1 Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.Eur J Hum Genet. 2006 Jan;14(1):39-48. doi: 10.1038/sj.ejhg.5201507.
2 Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis. Am J Hum Genet. 2017 Jan 5;100(1):105-116. doi: 10.1016/j.ajhg.2016.11.010. Epub 2016 Dec 8.
3 Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. Am J Med Genet A. 2018 Apr;176(4):862-876. doi: 10.1002/ajmg.a.38626. Epub 2018 Feb 20.
4 Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.Eur J Hum Genet. 2014 Feb;22(2):179-83. doi: 10.1038/ejhg.2013.130. Epub 2013 Jun 12.
5 Distribution of Adrenergic Receptor Subtypes and Responses to Topical 0.5% Apraclonidine in Patients With Blepharoptosis.Ophthalmic Plast Reconstr Surg. 2018 Nov/Dec;34(6):547-551. doi: 10.1097/IOP.0000000000001095.
6 Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations.J Neurol. 2011 Jun;258(6):1085-90. doi: 10.1007/s00415-010-5889-5. Epub 2011 Jan 9.
7 A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation.Ophthalmic Genet. 2010 Jun;31(2):98-100. doi: 10.3109/13816811003620517.
8 Transient clinical improvement of a mitochondrial neurogastrointestinal encephalomyopathy-like syndrome after allogeneic haematopoietic stem cell transplantation.BMJ Case Rep. 2017 Aug 1;2017:bcr2016218276. doi: 10.1136/bcr-2016-218276.
9 Unexpected clinical involvement of hereditary total leuconychia with congenital fibrosis of the extraocular muscles in three generations.Clin Exp Dermatol. 2009 Dec;34(8):e570-2. doi: 10.1111/j.1365-2230.2009.03246.x. Epub 2009 Jun 1.
10 Surgical Predictors of Reduced Marginal Reflex Distance After Upper Blepharoplasty.Ophthalmic Plast Reconstr Surg. 2019 Nov/Dec;35(6):566-568. doi: 10.1097/IOP.0000000000001376.
11 SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.Hum Mutat. 2011 Jul;32(7):760-72. doi: 10.1002/humu.21492. Epub 2011 Apr 28.
12 Mutations of the TWIST gene in the Saethre-Chotzen syndrome.Nat Genet. 1997 Jan;15(1):42-6. doi: 10.1038/ng0197-42.
13 Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.Am J Med Genet A. 2017 Jun;173(6):1631-1634. doi: 10.1002/ajmg.a.38126. Epub 2017 Apr 13.
14 Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.Neurology. 2014 Jun 10;82(23):2092-100. doi: 10.1212/WNL.0000000000000491. Epub 2014 May 9.
15 Orthostatic tremor, progressive external ophthalmoplegia, and Twinkle.JAMA Neurol. 2013 Nov;70(11):1429-31. doi: 10.1001/jamaneurol.2013.3521.
16 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.Muscle Nerve. 2017 May;55(5):761-765. doi: 10.1002/mus.25416. Epub 2017 Feb 3.
17 Novel truncating variant in DNA2-related congenital onset myopathy and ptosis suggests genotype-phenotype correlation.Neuromuscul Disord. 2017 Jul;27(7):616-618. doi: 10.1016/j.nmd.2017.03.013. Epub 2017 Apr 6.
18 Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):991-4. doi: 10.1016/j.ijporl.2010.05.022. Epub 2010 Jun 15.
19 The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder.J AAPOS. 2014 Aug;18(4):362-7. doi: 10.1016/j.jaapos.2014.03.005.
20 Transient neonatal myasthenia gravis due to a mother with ocular onset of anti-muscle specific kinase myasthenia gravis.Neuromuscul Disord. 2017 Jul;27(7):655-657. doi: 10.1016/j.nmd.2017.03.012. Epub 2017 Apr 4.
21 Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus.Gene. 2019 Jul 20;706:62-68. doi: 10.1016/j.gene.2019.04.073. Epub 2019 Apr 29.
22 Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study.Arch Ophthalmol. 2006 Apr;124(4):552-7. doi: 10.1001/archopht.124.4.552.
23 Sensitivity and specificity of single-fibre EMG in the diagnosis of ocular myasthenia varies accordingly to clinical presentation.J Neurol. 2020 Mar;267(3):739-745. doi: 10.1007/s00415-019-09631-3. Epub 2019 Nov 16.
24 Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman.Neuromuscul Disord. 2005 Mar;15(3):262-4. doi: 10.1016/j.nmd.2004.10.016. Epub 2005 Jan 28.
25 PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?.Clin Exp Ophthalmol. 2013 Dec;41(9):835-41. doi: 10.1111/ceo.12109. Epub 2013 May 3.
26 Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genet Med. 2019 Nov;21(11):2521-2531. doi: 10.1038/s41436-019-0532-z. Epub 2019 May 16.
27 Applications of molecular genetics to the understanding of congenital ocular motility disorders.Ann N Y Acad Sci. 2002 Apr;956:55-63. doi: 10.1111/j.1749-6632.2002.tb02808.x.
28 Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.J Neurol. 2010 Sep;257(9):1517-23. doi: 10.1007/s00415-010-5565-9. Epub 2010 Apr 20.
29 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. Eur J Med Genet. 2019 Jun;62(6):103526. doi: 10.1016/j.ejmg.2018.08.007. Epub 2018 Aug 17.
30 Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.Hum Genet. 2016 Feb;135(2):209-22. doi: 10.1007/s00439-015-1627-5. Epub 2015 Dec 29.
31 SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans.J Hum Genet. 2016 Nov;61(11):917-922. doi: 10.1038/jhg.2016.86. Epub 2016 Jul 7.
32 Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.Am J Med Genet A. 2017 Oct;173(10):2763-2771. doi: 10.1002/ajmg.a.38375. Epub 2017 Aug 4.
33 Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1.J Med Genet. 2002 Jul;39(7):484-8. doi: 10.1136/jmg.39.7.484.
34 Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies.Neuromuscul Disord. 2018 Feb;28(2):137-143. doi: 10.1016/j.nmd.2017.10.006. Epub 2017 Oct 31.