Orbital Margin, Hypoplasia of disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ORB019 MIFTS: 21	Orbital Margin, Hypoplasia of Categories: Eye diseases, Fetal diseases, Rare diseases
Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Orbital Margin, Hypoplasia of

MalaCards integrated aliases for Orbital Margin, Hypoplasia of:

Name: Orbital Margin, Hypoplasia of ⁵⁶

Syndromic Orbital Border Hypoplasia ⁵⁸

Urrets-Zavalia Syndrome ⁵⁸

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

HPO:

³¹

orbital margin, hypoplasia of:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 165600

UMLS via Orphanet ⁷² C1833795

Orphanet ⁵⁸ ORPHA98606

MedGen ⁴¹ C1833795

SNOMED-CT via HPO ⁶⁸ 263681008 278530008

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Summaries for Orbital Margin, Hypoplasia of

MalaCards based summary : Orbital Margin, Hypoplasia of, also known as syndromic orbital border hypoplasia, is related to keratoconus and anisocoria. Affiliated tissues include endothelial, eye and skin, and related phenotypes are lower eyelid coloboma and lacrimal duct atresia

More information from OMIM: 165600

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Related Diseases for Orbital Margin, Hypoplasia of

Diseases related to Orbital Margin, Hypoplasia of via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)

#	Related Disease	Score
1	keratoconus	11.0
2	anisocoria	10.7
3	fuchs' endothelial dystrophy	10.7
4	cataract	10.7
5	intraocular pressure quantitative trait locus	10.5
6	joint laxity, short stature, and myopia	10.5
7	corneal edema	10.5
8	myopia	10.5
9	corneal dystrophy	10.5
10	ocular hypertension	10.5
11	hypotonia	10.5
12	achondroplasia	10.4
13	corneal dystrophy, fuchs endothelial, 1	10.4
14	macular dystrophy, corneal	10.4
15	astigmatism	10.4
16	keratoconus 2	10.4
17	corneal disease	10.4
18	juvenile glaucoma	10.4
19	anisometropia	10.4
20	granular corneal dystrophy	10.4
21	uveitis	10.4
22	iridocyclitis	10.4
23	47,xyy	10.4

Graphical network of the top 20 diseases related to Orbital Margin, Hypoplasia of:

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Symptoms & Phenotypes for Orbital Margin, Hypoplasia of

Human phenotypes related to Orbital Margin, Hypoplasia of:

³¹

#	Description	HPO Source Accession
1	lower eyelid coloboma ³¹	HP:0000652
2	lacrimal duct atresia ³¹	HP:0000564
3	congenital extraocular muscle anomaly ³¹	HP:0007647

Symptoms via clinical synopsis from OMIM:

⁵⁶

Eyes:
lower eyelid coloboma
congenital extraocular muscle anomaly
orbital margin hypoplasia
hypoplasia of the palpebral skin and tarsal plates
ectopic or elongated lower lacrimal punctum

Nose:
variable lacrimal passage defects
nasolacrimal duct atresia
short or absent inferior canaliculi
supernumerary canaliculi

Clinical features from OMIM:

165600

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Drugs & Therapeutics for Orbital Margin, Hypoplasia of

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	A Comparison of Visual Functions and Side-effects After DSAEK or DMEK for Fuchs' Endothelial Dystrophy	Not yet recruiting	NCT04417959

Search NIH Clinical Center for Orbital Margin, Hypoplasia of

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Genetic Tests for Orbital Margin, Hypoplasia of

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Anatomical Context for Orbital Margin, Hypoplasia of

MalaCards organs/tissues related to Orbital Margin, Hypoplasia of:

⁴⁰

Endothelial, Eye, Skin

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Publications for Orbital Margin, Hypoplasia of

Articles related to Orbital Margin, Hypoplasia of:

(show top 50) (show all 67)

#	Title	Authors	PMID	Year
1	Familial primary hypoplasia of the orbital margin. ⁵⁶	URRETS-ZAVALIA A	14359373	1955
2	Manual deep anterior lamellar keratoplasty after partial unintentional full-thickness trephination. ⁶¹	Sarnicola E...Sarnicola V	32493069	2020
3	Outcomes of big-bubble deep anterior lamellar keratoplasty for pediatric keratoconus. ⁶¹	Feizi S...Moshtaghion SM	31974823	2020
4	Stromal Patch with fibrin glue as a novel surgical technique to seal peripheral Descemet's membrane perforations in deep anterior lamellar keratoplasty. ⁶¹	Ghaffari R...Hashemi H	30656510	2019
5	Urrets-Zavalia Syndrome following cataract surgery in a case of anterior megalophthalmos. ⁶¹	Koch CR...Kara-Junior N	31116316	2019
6	Urrets-Zavalia syndrome with interface fluid syndrome following laser in situ keratomileusis. ⁶¹	Vasquez-Perez A...Tuft S	30619971	2019
7	Urrets-Zavalia Like Syndrome, as a Complication of Sickle Cell Disease. ⁶¹	Tabatabaei SA...Soleimani M	29286878	2019
8	Spontaneous Pupillary Recovery of Urrets-Zavalia Syndrome Following Descemet's Membrane Endothelial Keratoplasty. ⁶¹	Isac MMS...Patel T	30923716	2019
9	Single-pass four-throw pupilloplasty for Urrets-Zavalia syndrome. ⁶¹	Narang P...Ashok Kumar D	30058383	2018
10	Urrets-Zavalia syndrome after foreign-body removal from the anterior chamber. ⁶¹	Gedar Totuk OM...Orucoglu F	30033114	2018
11	[Urrets-Zavalia syndrome post keratoplasty, keratoconus and achondroplasia: Is there a link?] ⁶¹	Aounzou S...Tahri H	29908651	2018
12	Urrets-Zavalia Syndrome After Combined Trabeculotomy-Trabeculectomy Surgery. ⁶¹	Klezlova A...Hoffmann EM	29394202	2018
13	[Postoperative maximum dilated fixed pupil and primary graft insufficiency after penetrating keratoplasty]. ⁶¹	Schie?l G...Seitz B	28776159	2018
14	Iridoplasty of fixed-dilated pupil (Urrets-Zavalia syndrome) after deep anterior lamellar keratoplasty. ⁶¹	Ntora E...Ziakas N	29118500	2017
15	Urrets-Zavalia Syndrome After Diode Laser Transscleral Cyclophotocoagulation. ⁶¹	Vieira GM...Ritch R	28662002	2017
16	Bilateral Urrets-Zavalia Syndrome After Descemet Stripping Automated Endothelial Keratoplasty. ⁶¹	Sarezky D...Orlin SE	27490053	2017
17	Urrets-Zavalia syndrome after deep anterior lamellar keratoplasty ⁶¹	Jovanovic V...Nikolic L	29328565	2016
18	Update and review of Urrets-Zavalia syndrome. ⁶¹	Magalhaes OA...Sanvicente CT	27463637	2016
19	Hydrophilic Acrylic Intraocular Lens Opacification after Descemet Stripping Automated Endothelial Keratoplasty. ⁶¹	Norouzpour A...Zarei-Ghanavati S	27413506	2016
20	Urrets-Zavalia Syndrome after Iris-Claw-Lens Implantation, Inadequate Iridectomy and Acute Glaucoma. ⁶¹	Arendt P...Gerding H	27116486	2016
21	Urrets-Zavalia syndrome in different methods of keratoplasty. ⁶¹	Foroutan A...Nekoozadeh S	27672606	2016
22	Express implant in Urrets-Zavalia syndrome after descemet's stripping automated endothelial keratoplasty. ⁶¹	Munoz-Morales A...Luchena-Lopez R	26077349	2015
23	Urrets-Zavalia syndrome after laser-assisted in situ keratomileusis (LASIK). ⁶¹	Avadhani K...Shakunthala A	26156840	2015
24	Urrets-Zavalia syndrome after Descemet membrane endothelial keratoplasty. ⁶¹	Holtmann C...Geerling G	25768696	2015
25	Urrets-Zavalia syndrome after implantable Collamer lens placement. ⁶¹	Al Habash A...Al Abdulsalam O	27330468	2015
26	Urrets-Zavalia syndrome as a complication of ocular hypotonia due to intravenous cidofovir treatment. ⁶¹	Soleimani M...Moghimi S	25060846	2014
27	Fixed mydriatic pupil associated with an intraocular pressure rise as a complication of the implant of a Phakic Refractive Lens (PRL). ⁶¹	Perez-Cambrodi RJ...Cervino-Exposito A	24074252	2014
28	Urrets-Zavalia syndrome as a complication of ocular hypotonia due to intravenous cidofovir treatment. ⁶¹	Orssaud C...Dufier JL	24675584	2014
29	Urrets-Zavalia syndrome (fixed and dilated pupil following penetrating keratoplasty for keratoconus) and its variants. ⁶¹	Spierer O...Lazar M	24560126	2014
30	Response to the letter by Huisingh and McGewin: Cluster of Urrets-Zavalia syndrome: a sequel of toxic anterior segment syndrome. ⁶¹	Nizamani NB...Talpur KI	24288391	2014
31	Cluster of Urrets-Zavalia syndrome: a sequel of toxic anterior segment syndrome. ⁶¹	Huisingh C...McGwin G	24081503	2013
32	Cluster of Urrets-Zavalia syndrome: a sequel of toxic anterior segment syndrome. ⁶¹	Nizamani NB...Talpur KI	23410729	2013
33	Fixed dilated pupilla as a common complication of deep anterior lamellar keratoplasty complicated with Descemet membrane perforation. ⁶¹	Bozkurt KT...Acar S	23065856	2013
34	Urrets-Zavalia syndrome following penetrating keratoplasty for keratoconus. ⁶¹	Figueiredo GS...Figueiredo FC	22965868	2013
35	Urrets-Zavalia syndrome following goniotomy in a child. ⁶¹	Walton DS	23273938	2013
36	Urrets- Zavalia Syndrome after glaucoma filtration device implantation. ⁶¹	Gharbiya M...Cruciani F	24217839	2013
37	Features of Urrets-Zavalia syndrome after descemet stripping automated endothelial keratoplasty. ⁶¹	Anwar DS...Mootha VV	22960674	2012
38	Femtosecond-assisted keratopigmentation double tunnel technique in the management of a case of Urrets-Zavalia syndrome. ⁶¹	Alio JL...El Aswad A	22531435	2012
39	Urrets-Zavalia syndrome following goniotomy in a child. ⁶¹	Chelnis JG...Reynolds JD	22681954	2012
40	[Deep anterior lamellar keratoplasty by big-bubble technique]. ⁶¹	Tzelikis PF...Akaishi L	22331118	2011
41	Long-term follow-up with I-CARE phakic IOLs. ⁶¹	Plainer S...Ardjomand N	20935311	2011
42	Urrets-Zavalia syndrome following Descemet's stripping endothelial keratoplasty triple procedure. ⁶¹	Russell HC...Srinivasan S	20796262	2011
43	Fixed dilated pupil (urrets-zavalia syndrome) after deep anterior lamellar keratoplasty. ⁶¹	Niknam S...Rajabi MT	19770716	2009
44	Fixed dilated pupil (urrets-zavalia syndrome) and anterior subcapsular cataract formation after descemet stripping endothelial keratoplasty. ⁶¹	Fournie P...Arne JL	19730095	2009
45	Urrets-Zavalia syndrome following iatrogenic pupil dilation in eyes with pigment dispersion. ⁶¹	Mocan MC...Orhan M	19491966	2009
46	[Results of anterior lamellar keratoplasty performed with "big bubble" technique]. ⁶¹	Wylegala E...Janiszewska D	20169882	2009
47	Urrets-Zavalia syndrome following iris-claw phakic intraocular lens implantation. ⁶¹	Park SH...Yang SW	19044240	2008
48	Penetrating keratoplasty for corneal ectasia after laser in situ keratomileusis. ⁶¹	Kucumen RB...Oncel M	18850545	2008
49	Regression of urrets-zavalia syndrome after deep lamellar keratoplasty for keratoconus: a case study. ⁶¹	Spadea L...Viola G	19516912	2008
50	Urrets-Zavalia syndrome following intracameral C3F8 injection for acute corneal hydrops. ⁶¹	Aralikatti AK...Shah S	18352891	2008

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Genes for Orbital Margin, Hypoplasia of

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Variations for Orbital Margin, Hypoplasia of

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Expression for Orbital Margin, Hypoplasia of

Search GEO for disease gene expression data for Orbital Margin, Hypoplasia of.

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Pathways for Orbital Margin, Hypoplasia of

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GO Terms for Orbital Margin, Hypoplasia of

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