MCID: ORB019
MIFTS: 21

Orbital Margin, Hypoplasia of

Categories: Eye diseases, Fetal diseases, Rare diseases

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:

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

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

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 Top Affiliating Genes
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:



Diseases related to Orbital Margin, Hypoplasia of

Symptoms & Phenotypes for Orbital Margin, Hypoplasia of

Human phenotypes related to Orbital Margin, Hypoplasia of:

31
# Description HPO Frequency 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

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

Genetic Tests for Orbital Margin, Hypoplasia of

Anatomical Context for Orbital Margin, Hypoplasia of

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

40
Endothelial, Eye, Skin

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
14359373 1955
2
Manual deep anterior lamellar keratoplasty after partial unintentional full-thickness trephination. 61
32493069 2020
3
Outcomes of big-bubble deep anterior lamellar keratoplasty for pediatric keratoconus. 61
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
30656510 2019
5
Urrets-Zavalia Syndrome following cataract surgery in a case of anterior megalophthalmos. 61
31116316 2019
6
Urrets-Zavalia syndrome with interface fluid syndrome following laser in situ keratomileusis. 61
30619971 2019
7
Urrets-Zavalia Like Syndrome, as a Complication of Sickle Cell Disease. 61
29286878 2019
8
Spontaneous Pupillary Recovery of Urrets-Zavalia Syndrome Following Descemet's Membrane Endothelial Keratoplasty. 61
30923716 2019
9
Single-pass four-throw pupilloplasty for Urrets-Zavalia syndrome. 61
30058383 2018
10
Urrets-Zavalia syndrome after foreign-body removal from the anterior chamber. 61
30033114 2018
11
[Urrets-Zavalia syndrome post keratoplasty, keratoconus and achondroplasia: Is there a link?] 61
29908651 2018
12
Urrets-Zavalia Syndrome After Combined Trabeculotomy-Trabeculectomy Surgery. 61
29394202 2018
13
[Postoperative maximum dilated fixed pupil and primary graft insufficiency after penetrating keratoplasty]. 61
28776159 2018
14
Iridoplasty of fixed-dilated pupil (Urrets-Zavalia syndrome) after deep anterior lamellar keratoplasty. 61
29118500 2017
15
Urrets-Zavalia Syndrome After Diode Laser Transscleral Cyclophotocoagulation. 61
28662002 2017
16
Bilateral Urrets-Zavalia Syndrome After Descemet Stripping Automated Endothelial Keratoplasty. 61
27490053 2017
17
Urrets-Zavalia syndrome after deep anterior lamellar keratoplasty 61
29328565 2016
18
Update and review of Urrets-Zavalia syndrome. 61
27463637 2016
19
Hydrophilic Acrylic Intraocular Lens Opacification after Descemet Stripping Automated Endothelial Keratoplasty. 61
27413506 2016
20
Urrets-Zavalia Syndrome after Iris-Claw-Lens Implantation, Inadequate Iridectomy and Acute Glaucoma. 61
27116486 2016
21
Urrets-Zavalia syndrome in different methods of keratoplasty. 61
27672606 2016
22
Express implant in Urrets-Zavalia syndrome after descemet's stripping automated endothelial keratoplasty. 61
26077349 2015
23
Urrets-Zavalia syndrome after laser-assisted in situ keratomileusis (LASIK). 61
26156840 2015
24
Urrets-Zavalia syndrome after Descemet membrane endothelial keratoplasty. 61
25768696 2015
25
Urrets-Zavalia syndrome after implantable Collamer lens placement. 61
27330468 2015
26
Urrets-Zavalia syndrome as a complication of ocular hypotonia due to intravenous cidofovir treatment. 61
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
24074252 2014
28
Urrets-Zavalia syndrome as a complication of ocular hypotonia due to intravenous cidofovir treatment. 61
24675584 2014
29
Urrets-Zavalia syndrome (fixed and dilated pupil following penetrating keratoplasty for keratoconus) and its variants. 61
24560126 2014
30
Response to the letter by Huisingh and McGewin: Cluster of Urrets-Zavalia syndrome: a sequel of toxic anterior segment syndrome. 61
24288391 2014
31
Cluster of Urrets-Zavalia syndrome: a sequel of toxic anterior segment syndrome. 61
24081503 2013
32
Cluster of Urrets-Zavalia syndrome: a sequel of toxic anterior segment syndrome. 61
23410729 2013
33
Fixed dilated pupilla as a common complication of deep anterior lamellar keratoplasty complicated with Descemet membrane perforation. 61
23065856 2013
34
Urrets-Zavalia syndrome following penetrating keratoplasty for keratoconus. 61
22965868 2013
35
Urrets-Zavalia syndrome following goniotomy in a child. 61
23273938 2013
36
Urrets- Zavalia Syndrome after glaucoma filtration device implantation. 61
24217839 2013
37
Features of Urrets-Zavalia syndrome after descemet stripping automated endothelial keratoplasty. 61
22960674 2012
38
Femtosecond-assisted keratopigmentation double tunnel technique in the management of a case of Urrets-Zavalia syndrome. 61
22531435 2012
39
Urrets-Zavalia syndrome following goniotomy in a child. 61
22681954 2012
40
[Deep anterior lamellar keratoplasty by big-bubble technique]. 61
22331118 2011
41
Long-term follow-up with I-CARE phakic IOLs. 61
20935311 2011
42
Urrets-Zavalia syndrome following Descemet's stripping endothelial keratoplasty triple procedure. 61
20796262 2011
43
Fixed dilated pupil (urrets-zavalia syndrome) after deep anterior lamellar keratoplasty. 61
19770716 2009
44
Fixed dilated pupil (urrets-zavalia syndrome) and anterior subcapsular cataract formation after descemet stripping endothelial keratoplasty. 61
19730095 2009
45
Urrets-Zavalia syndrome following iatrogenic pupil dilation in eyes with pigment dispersion. 61
19491966 2009
46
[Results of anterior lamellar keratoplasty performed with "big bubble" technique]. 61
20169882 2009
47
Urrets-Zavalia syndrome following iris-claw phakic intraocular lens implantation. 61
19044240 2008
48
Penetrating keratoplasty for corneal ectasia after laser in situ keratomileusis. 61
18850545 2008
49
Regression of urrets-zavalia syndrome after deep lamellar keratoplasty for keratoconus: a case study. 61
19516912 2008
50
Urrets-Zavalia syndrome following intracameral C3F8 injection for acute corneal hydrops. 61
18352891 2008

Variations for Orbital Margin, Hypoplasia of

Expression for Orbital Margin, Hypoplasia of

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

Pathways for Orbital Margin, Hypoplasia of

GO Terms for Orbital Margin, Hypoplasia of

Sources for Orbital Margin, Hypoplasia of

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....