Details of Disease

General Information of Disease (ID: DISGWPWX)

• Disease Name: Disease of orbital part of eye adnexa
• Synonyms: orbital disease
• Definition: Diseases of the bony orbit and contents except the eyeball.|Editor note: check this. MESH and DOID excludes eyeball which would make equivalent to adnexa
• Disease Hierarchy:
  :
  DISGWPWX: Disease of orbital part of eye adnexa
• Disease Identifiers:
  MONDO ID: MONDO_0004751
  MESH ID: D009916
  UMLS CUI: C0029182
  MedGen ID: 45214
  SNOMED CT ID: 371436007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TSHR	TT6NYJA	Disputed	Biomarker	[1]
CD34	TTZAVYN	Strong	Biomarker	[2]
IFNGR2	TT13TL0	Strong	Biomarker	[3]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
UGDH	DE48Q2Z	Strong	Altered Expression	[4]

This Disease Is Related to 16 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HAS2	OTTD3PAL	Limited	Biomarker	[5]
KNTC1	OTI2OOFN	Limited	Biomarker	[6]
CASQ1	OTAY8WOO	Strong	Biomarker	[7]
EFNA5	OTOH4DRR	Strong	Biomarker	[3]
FOXL2	OTFRQUYL	Strong	Biomarker	[8]
IGLL5	OT9XQFL5	Strong	Genetic Variation	[9]
KIF21A	OT511XD9	Strong	Biomarker	[10]
LORICRIN	OTFRPVEO	Strong	Biomarker	[11]
LRWD1	OTHRVJQC	Strong	Biomarker	[12]
MAVS	OTTQ0J64	Strong	Biomarker	[13]
NBEAL2	OTMCAXWR	Strong	Biomarker	[14]
PHACTR4	OT29P1FM	Strong	Biomarker	[15]
POU6F1	OTGSP4XJ	Strong	Biomarker	[16]
PRPH2	OTNH2G5H	Strong	Biomarker	[15]
PSMD4	OTH1VZTM	Strong	Biomarker	[3]
SRL	OT7IEBWZ	Strong	Biomarker	[17]

References

• [1] Building the Case for Insulin-Like Growth Factor Receptor-I Involvement in Thyroid-Associated Ophthalmopathy.Front Endocrinol (Lausanne). 2017 Jan 3;7:167. doi: 10.3389/fendo.2016.00167. eCollection 2016.
• [2] The role of cell mediated immunopathogenesis in thyroid-associated ophthalmopathy.Int J Ophthalmol. 2019 Jul 18;12(7):1209-1214. doi: 10.18240/ijo.2019.07.24. eCollection 2019.
• [3] Stroke Risk and Treatment in Patients with Atrial Fibrillation and Low CHA(2)DS(2)-VASc Scores: Findings From the ORBIT-AF I and II Registries.J Am Heart Assoc. 2018 Aug 21;7(16):e008764. doi: 10.1161/JAHA.118.008764.
• [4] Divergent Sp1 protein levels may underlie differential expression of UDP-glucose dehydrogenase by fibroblasts: role in susceptibility to orbital Graves disease.J Biol Chem. 2011 Jul 8;286(27):24487-99. doi: 10.1074/jbc.M111.241166. Epub 2011 May 16.
• [5] Reversal of Pathological Features of Graves' Orbitopathy by Activation of Forkhead Transcription Factors, FOXOs.J Clin Endocrinol Metab. 2016 Jan;101(1):114-22. doi: 10.1210/jc.2015-2932. Epub 2015 Oct 26.
• [6] IgG4-positive Cell Quantification Distinguishes Between Inflammatory and Noninflammatory Diseases of the Orbit.Appl Immunohistochem Mol Morphol. 2020 Jul;28(6):448-452. doi: 10.1097/PAI.0000000000000767.
• [7] Pathogenesis of thyroid eye disease--does autoimmunity against the TSH receptor explain all cases?.Endokrynol Pol. 2010 Mar-Apr;61(2):222-7.
• [8] Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle.Clin Genet. 2003 Feb;63(2):117-20. doi: 10.1034/j.1399-0004.2003.00011.x.
• [9] Biased immunoglobulin light chain use in the Chlamydophila psittaci negative ocular adnexal marginal zone lymphomas.Am J Hematol. 2013 May;88(5):379-84. doi: 10.1002/ajh.23416. Epub 2013 Mar 28.
• [10] Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A.Invest Ophthalmol Vis Sci. 2005 Feb;46(2):530-9. doi: 10.1167/iovs.04-1125.
• [11] Difference in Midface Rejuvenation Strategy Between East Asians and Caucasians Based on Analysis of Age-related Changes in the Orbit and Midcheek Using Computed Tomography.Aesthetic Plast Surg. 2019 Dec;43(6):1547-1552. doi: 10.1007/s00266-019-01478-3. Epub 2019 Aug 29.
• [12] BLANT-fast graphlet sampling tool.Bioinformatics. 2019 Dec 15;35(24):5363-5364. doi: 10.1093/bioinformatics/btz603.
• [13] Association between methylenetetrahydrofolate reductase (MTHFR) polymorphisms and susceptibility to Graves' ophthalmopathy.Mol Med Rep. 2016 Sep;14(3):2276-82. doi: 10.3892/mmr.2016.5458. Epub 2016 Jun 30.
• [14] Evaluation of the GPS Precise Orbit and Clock Corrections from MADOCA Real-Time Products.Sensors (Basel). 2019 Jun 6;19(11):2580. doi: 10.3390/s19112580.
• [15] Avian Binocularity and Adaptation to Nocturnal Environments: Genomic Insights from a Highly Derived Visual Phenotype.Genome Biol Evol. 2019 Aug 1;11(8):2244-2255. doi: 10.1093/gbe/evz111.
• [16] The histopathology of Erdheim-Chester disease: a comprehensive review of a molecularly characterized cohort.Mod Pathol. 2018 Apr;31(4):581-597. doi: 10.1038/modpathol.2017.160. Epub 2017 Dec 1.
• [17] Comparison of Orbit-Based and Time-Offset-Based Geometric Correction Models for SAR Satellite Imagery Based on Error Simulation.Sensors (Basel). 2017 Jan 17;17(1):170. doi: 10.3390/s17010170.