MCID: HYD007
MIFTS: 26

Hydrophthalmos malady

Categories: Eye diseases

Aliases & Classifications for Hydrophthalmos

Summaries for Hydrophthalmos

MalaCards based summary : Hydrophthalmos is related to buphthalmos and glaucoma 3a, primary open angle, congenital, juvenile, or adult onset. An important gene associated with Hydrophthalmos is OPTN (Optineurin), and among its related pathways/superpathways is Heart Development. The drugs Bevacizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotype is vision/eye.

Wikipedia : 71 Hydrophthalmos is a congenital form of... more...

Related Diseases for Hydrophthalmos

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

(show all 37)
id Related Disease Score Top Affiliating Genes
1 buphthalmos 11.1
2 glaucoma 3a, primary open angle, congenital, juvenile, or adult onset 10.8
3 juvenile glaucoma 10.8
4 baraitser-winter syndrome 10.1 CYP1B1 OPTN
5 pituitary hormone deficiency, combined, 4 10.1 CYP1B1 OPTN
6 thyroid dyshormonogenesis 3 10.1 FOXC1 OPTN
7 hereditary xanthinuria 10.1 CYP1B1 PITX2
8 cardiac arrhythmia, ankyrin-b-related 10.1 FOXC1 PITX2
9 nutmeg liver 10.1 FBXO7 OPTN
10 acute poststreptococcal glomerulonephritis 10.0 CYP1B1 OPTN
11 orbital granuloma 10.0 FOXC1 PITX2
12 aphakia, congenital primary 10.0 FOXC1 PITX2
13 cornelia de lange syndrome 5 10.0 CYP1B1 OPTN
14 cornea plana 10.0 FOXC1 PITX2
15 pelvic varices 10.0 FBXO7 OPTN
16 lactocele 10.0 CYP1B1 OPTN
17 nuchal bleb, familial 10.0 LTBP2 OPTN
18 olecranon bursitis 9.9 LTBP2 OPTN
19 scapuloperoneal syndrome, myopathic type 9.9 FOXC1 OPTN PITX2
20 skin granular cell tumor 9.9 FOXC1 OPTN PITX2
21 chondrocalcinosis 9.9 FBXO7 PITX2
22 jph2-related familial hypertrophic cardiomyopathy 9.9 CYP1B1 FOXC1 PITX2
23 colorectal cancer 5 9.9 CYP1B1 OPTN
24 myopia 7 9.9 CYP1B1 FOXC1 PITX2
25 muir-torre syndrome 9.9 CYP1B1 FOXC1 PITX2
26 opisthorchiasis 9.8 CYP1B1 LTBP2 OPTN
27 red-green color vision defects 9.8 CYP1B1 FOXC1 LTBP2
28 cataract 9.8
29 myopia 9.8
30 neurofibromatosis 9.8
31 hypertrophy of breast 9.8 CYP1B1 FOXC1 OPTN PITX2
32 deafness, autosomal recessive 91 9.8 CYP1B1 FOXC1 OPTN PITX2
33 nevoid hypermelanosis, linear and whorled 9.8 CYP1B1 FOXC1 OPTN PITX2
34 peters anomaly 9.6 CYP1B1 FOXC1 LTBP2 OPTN
35 idiopathic corneal edema 9.6 CYP1B1 FBXO7 LTBP2 OPTN
36 chronic tympanitis 9.4 CYP1B1 FBXO7 FOXC1 LTBP2 OPTN
37 conjunctival folliculosis 9.2 CYP1B1 FBXO7 FOXC1 LTBP2 OPTN PITX2

Graphical network of the top 20 diseases related to Hydrophthalmos:



Diseases related to Hydrophthalmos

Symptoms & Phenotypes for Hydrophthalmos

MGI Mouse Phenotypes related to Hydrophthalmos:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.92 CYP1B1 FOXC1 LTBP2 PITX2

Drugs & Therapeutics for Hydrophthalmos

Drugs for Hydrophthalmos (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 4 216974-75-3
2 Angiogenesis Inhibitors Phase 4
3 Angiogenesis Modulating Agents Phase 4
4
Menthol Approved 2216-51-5 16666

Interventional clinical trials:

(show all 13)
id Name Status NCT ID Phase
1 Use of Bevacizumab in Trabeculectomy Surgery Completed NCT01166594 Phase 4
2 Comparison Between Deep Sclerectomy and Traditional Trabeculotomy & Trabeculectomy in Congenital Glaucoma Unknown status NCT01460017 Phase 1
3 Combined Trab+Trab Versus Combined Trab+Trab With Subconjunctival Implantation of Ologen for Primary Congenital Glaucoma Active, not recruiting NCT02121171 Phase 1
4 The Genetic Characteristics in South Korean Patients With Primary Congenital Glaucoma Unknown status NCT01020721
5 Endoscopic Goniotomy for Infantile Glaucoma Completed NCT00338533
6 Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye Diseases Completed NCT00076271
7 mRNA Expression in Lymphocytes of Glaucoma Patients Completed NCT00327509
8 Genetic Testing in Primary Congenital Glaucoma Patients Recruiting NCT01136460
9 Prospective Study of the Diagnostic and Therapeutic Management of Congenital Glaucoma in France Recruiting NCT03077789
10 Determination of the Sensitivity and Specificity of a Smartphone Application to Detect Retinoblastoma Recruiting NCT03016156
11 Aqueous Humor Dynamics and Biometric Parameters in Eyes of Children Recruiting NCT01290588
12 Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis Implantation Active, not recruiting NCT02945176
13 Repository for Inherited Eye Diseases Suspended NCT00378742

Search NIH Clinical Center for Hydrophthalmos

Cochrane evidence based reviews: hydrophthalmos

Genetic Tests for Hydrophthalmos

Anatomical Context for Hydrophthalmos

MalaCards organs/tissues related to Hydrophthalmos:

39
Eye

Publications for Hydrophthalmos

Articles related to Hydrophthalmos:

id Title Authors Year
1
A contribution to the surgical treatment of hydrophthalmos. ( 5893381 )
1965
2
PERSISTENT PUPILLARY MEMBRANE; ASSOCIATED WITH HYDROPHTHALMOS, CORECTOPIA, CATARACT AND MYOPIA. ( 14070714 )
1963
3
Hydrophthalmos and neurofibromatosis (von Recklinghausen). ( 13652533 )
1959
4
Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity. ( 14884753 )
1952
5
A Collective Study of the Treatment of Congenital Hydrophthalmos. ( 16692688 )
1924
6
Hydrophthalmos (Buphthalmos or Infantile Glaucoma)-Report of a Case with Microscopic Findings. ( 16692647 )
1923

Variations for Hydrophthalmos

Expression for Hydrophthalmos

Search GEO for disease gene expression data for Hydrophthalmos.

Pathways for Hydrophthalmos

Pathways related to Hydrophthalmos according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.29 FOXC1 PITX2

GO Terms for Hydrophthalmos

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

id Name GO ID Score Top Affiliating Genes
1 camera-type eye development GO:0043010 9.26 FOXC1 PITX2
2 odontogenesis of dentin-containing tooth GO:0042475 9.16 FOXC1 PITX2
3 collagen fibril organization GO:0030199 8.96 CYP1B1 FOXC1
4 positive regulation of DNA binding GO:0043388 8.62 FOXC1 PITX2

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

id Name GO ID Score Top Affiliating Genes
1 ubiquitin binding GO:0043130 8.62 FBXO7 OPTN

Sources for Hydrophthalmos

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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