MCID: HYD007
MIFTS: 35

Hydrophthalmos

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Hydrophthalmos

MalaCards integrated aliases for Hydrophthalmos:

Name: Hydrophthalmos 12 43 15 17 71

Classifications:



External Ids:

Disease Ontology 12 DOID:11212
ICD9CM 34 743.2 743.20
MeSH 43 D006871
NCIt 49 C50648
SNOMED-CT 67 13832009
ICD10 32 Q15.0
UMLS 71 C0020302

Summaries for Hydrophthalmos

MalaCards based summary : Hydrophthalmos is related to juvenile glaucoma and intraocular pressure quantitative trait locus. An important gene associated with Hydrophthalmos is CYP1B1 (Cytochrome P450 Family 1 Subfamily B Member 1), and among its related pathways/superpathways are Metabolism of proteins and O-linked glycosylation. The drugs Travoprost and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and brain, and related phenotypes are mortality/aging and embryo

Wikipedia : 74 Primary juvenile glaucoma is glaucoma that develops due to ocular hypertension and is evident either at... more...

Related Diseases for Hydrophthalmos

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

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 juvenile glaucoma 30.6 WDR36 PITX2 PAX6 MYOC LTBP3 LTBP2
2 intraocular pressure quantitative trait locus 30.0 WDR36 PITX2 PAX6 MYOC FOXC1 CYP1B1
3 myopia 29.5 WDR36 POMGNT1 PAX6 MYOC LTBP2
4 glaucoma 3, primary congenital, a 25.9 WDR36 POMT2 POMT1 POMGNT1 PITX2 PAX6
5 glaucoma 3, primary infantile, b 10.4 LTBP2 CYP1B1
6 congenital muscular dystrophy with intellectual disability 10.3 POMT2 POMT1
7 traumatic glaucoma 10.3 MYOC LTBP2
8 axenfeld-rieger syndrome, type 2 10.3 PITX2 FOXC1
9 cataract 10.3
10 glaucoma 1, open angle, a 10.3 MYOC CYP1B1
11 early-onset glaucoma 10.2 PITX2 MYOC CYP1B1
12 glaucoma-related pigment dispersion syndrome 10.2 WDR36 MYOC CYP1B1
13 steroid-induced glaucoma 10.2 WDR36 MYOC CYP1B1
14 isolated aniridia 10.2 PAX6 FOXC1
15 peripheral retinal degeneration 10.2 WDR36 MYOC
16 anterior segment dysgenesis 5 10.2 PAX6 CYP1B1
17 glaucoma, normal tension 10.2 WDR36 MYOC CYP1B1
18 neurofibromatosis, type iv, of riccardi 10.1
19 retinal detachment 10.1
20 cataract 46, juvenile-onset 10.1
21 pierre robin syndrome 10.1
22 immunoglobulin alpha deficiency 10.1
23 organic acidemia 10.1
24 congenital muscular dystrophy with cerebellar involvement 10.1 POMT2 POMT1 POMGNT1
25 congenital muscular dystrophy without intellectual disability 10.1 POMT1 FKTN
26 excessive tearing 10.1 WDR36 MYOC LTBP2 CYP1B1
27 acquired color blindness 10.0 PITX2 PAX6 FOXC1
28 axenfeld-rieger syndrome, type 1 10.0 PITX2 PAX6 FOXC1
29 sclerocornea 10.0 PITX2 PAX6 FOXC1
30 intestinal atresia 10.0 PITX2 PAX6 FOXC1
31 anterior segment dysgenesis 4 10.0 PITX2 FOXC1
32 congenital hypopituitarism 10.0 PITX2 PAX6
33 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.0 PITX2 PAX6 FOXC1
34 coloboma, ocular, autosomal dominant 10.0 PAX6 CYP1B1
35 corneal edema 9.9 MYOC MPDU1 LTBP2 CYP1B1
36 axenfeld-rieger syndrome, type 3 9.9 PITX2 PAX6 FOXC1 CYP1B1
37 microphthalmia, isolated 2 9.9 WDR36 PAX6 MYOC CYP1B1
38 phacogenic glaucoma 9.9 WDR36 MYOC LTBP3 LTBP2 CYP1B1
39 anterior segment dysgenesis 9.9 PITX2 PAX6 FOXC1 CYP1B1
40 open-angle glaucoma 9.9 WDR36 MYOC LTBP2 FOXC1 CYP1B1
41 limb-girdle muscular dystrophy 9.9 POMT1 POMGNT1 FKTN
42 cornea plana 9.9 PITX2 FOXC1
43 cardiomyopathy, dilated, 1d 9.8 POMT2 POMT1 POMGNT1 DAG1
44 coloboma of macula 9.8 PITX2 PAX6 FOXC1 CYP1B1
45 autosomal recessive limb-girdle muscular dystrophy type 2a 9.8 FKTN DAG1
46 muscular dystrophy, congenital, 1b 9.8 POMGNT1 FKTN DAG1
47 kahrizi syndrome 9.7 MPDU1 DPM3 DOLK
48 glaucoma, primary open angle 9.7 WDR36 MYOC LTBP3 LTBP2 FOXC1 CYP1B1
49 ullrich congenital muscular dystrophy 1 9.7 POMT2 POMGNT1 FKTN
50 rigid spine muscular dystrophy 1 9.7 POMT2 POMGNT1 FKTN

Graphical network of the top 20 diseases related to Hydrophthalmos:



Diseases related to Hydrophthalmos

Symptoms & Phenotypes for Hydrophthalmos

MGI Mouse Phenotypes related to Hydrophthalmos:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10 DAG1 DOLK DPM3 FKTN FOXC1 LTBP2
2 embryo MP:0005380 9.91 DAG1 DOLK FKTN FOXC1 PAX6 PITX2
3 muscle MP:0005369 9.5 DAG1 FKTN FOXC1 PAX6 PITX2 POMGNT1
4 vision/eye MP:0005391 9.4 CYP1B1 DAG1 DPM3 FOXC1 LTBP2 LTBP3

Drugs & Therapeutics for Hydrophthalmos

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Travoprost Approved Phase 3 157283-68-6 5282226
2
tannic acid Approved Phase 3 1401-55-4
3
Timolol Approved Phase 3 26839-75-8 33624 5478
4
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
5 Antihypertensive Agents Phase 3
6 Pharmaceutical Solutions Phase 3
7 Ophthalmic Solutions Phase 3
8 Neurotransmitter Agents Phase 3
9 Anti-Arrhythmia Agents Phase 3
10 Adrenergic Antagonists Phase 3
11 Adrenergic beta-Antagonists Phase 3
12 Adrenergic Agents Phase 3
13
Latanoprost Approved, Investigational Phase 2 130209-82-4 5282380 5311221
14
Dorzolamide Approved Phase 2 120279-96-1 3154 5284549
15 Carbonic Anhydrase Inhibitors Phase 2
16 Anesthetics
17 Central Nervous System Depressants
18 Anti-Bacterial Agents
19 Alkylating Agents
20 Antibiotics, Antitubercular
21 Mitomycins

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Comparison of the Ahmed Glaucoma Valve FP7 and FP8 in Pediatric Glaucoma: a Randomized Clinical Trial. Unknown status NCT01494974 Phase 4
2 A 3 Month, Multicenter, Double-Masked Safety and Efficacy Study of Travoprost Ophthalmic Solution, 0.004% Compared to Timolol (0.5% or 0.25%) in Pediatric Glaucoma Patients Completed NCT01652664 Phase 3 Travoprost 0.004% PQ ophthalmic solution;Timolol, 0.5% or 0.25% ophthalmic solution;Travoprost Vehicle
3 Efficacy and Safety of Prostaglandin Analogue and Carbonic Anhydrase Inhibitor for the Treatment of Pediatric Glaucoma Completed NCT01527682 Phase 2 Latanoprost, Dorzolamide
4 Comparison Between The Outcome of Deep Sclerectomy and Traditional Trabeculotomy and Trabeculectomy Surgeries in Congenital Glaucoma Unknown status NCT01460017 Phase 1
5 Comparative Evaluation of Combined Trabeculotomy-trabeculectomy Versus Combined Trabeculotomy-trabeculectomy With Subconjunctival Implantation of Collagen Matrix Implant for Primary Congenital Glaucoma. Unknown status NCT02121171 Phase 1
6 An Open-Label, Pharmacokinetic and Safety Study of Travoprost Ophthalmic Solution, 0.004% in Pediatric Glaucoma or Ocular Hypertension Patients Completed NCT01658839 Phase 1 Travoprost ophthalmic solution, 0.004% (new formulation)
7 Study of Gene, Inheritance Pattern and Genotype - Phenotype Correlations in South Korean Patients With Primary Congenital Glaucoma Unknown status NCT01020721
8 Histopathological Examination of Iris Tissue in Buphthalmos Completed NCT04011878
9 A Prospective Open-label, Multicenter Clinical Investigation to Assess the Safety and Performance of ARGOS-IO System in Patients Undergoing Implantation of a Boston Keratoprosthesis (BKPro) Completed NCT02945176
10 Endoscopic Goniotomy for Infantile Glaucoma Completed NCT00338533
11 Microcatheter Assisted Circumferential Trabeculotomy in Congenital Glaucoma Completed NCT04116450
12 Prospective Study of the Diagnostic and Therapeutic Management of Congenital Glaucoma in France Recruiting NCT03077789
13 Establishment of an Anaesthetic Protocol for Examinations Under Anaesthesia for Children With Glaucoma or Suspected Glaucoma - Correlation of Bispectral Index (BIS) and Intraocular Pressure (IOP) Recruiting NCT03972852
14 Genetic Testing in Primary Congenital Glaucoma Patients Recruiting NCT01136460
15 Determination of the Sensitivity and Specificity of a Smartphone Application to Detect Retinoblastoma Recruiting NCT03016156
16 Histopathological Examination of Iris Tissue in Primary Congenital Glaucoma Not yet recruiting NCT04079725
17 Randomized Controlled Study to Evaluate Safety and Efficacy of Ologen® Collagen Matrix in Patients With Primary Congenital Glaucoma Undergoing Trabeculectomy Not yet recruiting NCT03541551

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:

40
Eye, Testes, Brain

Publications for Hydrophthalmos

Articles related to Hydrophthalmos:

(show all 45)
# Title Authors PMID Year
1
[Cataract surgery in glaucoma patients. Perioperative aspects]. 61
23519499 2013
2
[The clinico-morphologic foundation of the modern pathogenetically oriented surgery of hydrophthalmos simplex]. 61
2255477 1990
3
[Hydrophthalmos with spontaneous arrest of progress (description of a case)]. 61
2749981 1989
4
[Surgical results in congenital glaucoma and in glaucoma in young persons]. 61
2797671 1989
5
[The development of hydrophthalmos in adults]. 61
3208318 1988
6
[Clinical classification of congenital glaucoma (hydrophthalmos) in children]. 61
3394198 1988
7
[Clinical variants of goniodysgenesis in hydrophthalmos and their role in the selection of a pathogenetically oriented operation]. 61
3369032 1988
8
[Late results of microsurgical procedures on the scleral sinus with the approach ab externo in hydrophthalmos]. 61
3785859 1986
9
[Unilateral congenital anophthalmos with Trabecular agenesia and hydrophthalmos of the other eye (author's transl)]. 61
7206567 1980
10
[Microsurgical evaluation of functional preservation of the scleral sinus and intrascleral vessels in hydrophthalmos]. 61
7456213 1980
11
[Scleral sinus localization in hydrophthalmos]. 61
7423723 1980
12
[Hydrophthalmos]. 61
376159 1979
13
[Vascular changes within the proximal optic nerve in children suffering from glaucoma]. 61
548852 1979
14
[Hydrophthalmos and the late results of microgoniosurgery]. 61
634537 1978
15
[Genetic heterogenicity of hydrophthalmos]. 61
837458 1977
16
[Diagnostic difficulties in late hydrophthalmos]. 61
1021744 1976
17
[Significance of early diagnosis of children's hydrophthalmos]. 61
1212725 1975
18
[Hydrophthalmos in the adult age]. 61
1157149 1975
19
[Regular echographic axial measurements of the eye in controlling intraocular pressure regulation in hydrophthalmos]. 61
4465521 1974
20
[Hydrophthalmos in siblings]. 61
5352391 1969
21
[A simple fistulating surgery of the iridocorneal angle in hydrophthalmos]. 61
5395056 1969
22
[500 operations for hydrophthalmos]. 61
5733798 1968
23
[Goniotomy in hydrophthalmos performed by the use of a gonioscope of own construction]. 61
5589491 1967
24
[The use of ultrasonics in the diagnosis and assessment of the efficacy of therapy of hydrophthalmos]. 61
5616982 1967
25
[Hydrophthalmos with Pierre-Robin syndrome]. 61
5978085 1966
26
[Penetrating goniodiathermy in hydrophthalmos and primary advanced glaucoma]. 61
5885514 1965
27
A contribution to the surgical treatment of hydrophthalmos. 61
5893381 1965
28
[RESULTS OF THE SURGICAL THERAPY OF HYDROPHTHALMOS]. 61
14236043 1964
29
[ON THE SURGICAL TREATMENT OF HYDROPHTHALMOS]. 61
14239992 1964
30
[MORPHOLOGICAL CHANGES IN ADVANCED HYDROPHTHALMOS]. 61
14133933 1964
31
PERSISTENT PUPILLARY MEMBRANE; ASSOCIATED WITH HYDROPHTHALMOS, CORECTOPIA, CATARACT AND MYOPIA. 61
14070714 1963
32
[Results of operations in hydrophthalmos with special reference to goniotomy]. 61
13930354 1963
33
[Goniotomy in hydrophthalmos and related forms: results of over a decade of experience with 140 operated eyes]. 61
13869099 1961
34
[Retinal detachment as an early complication of hydrophthalmos]. 61
13671633 1959
35
[Non-perforating cyclodiathermy in congenital hydrophthalmos and in other forms of glaucoma in children]. 61
13635999 1959
36
Hydrophthalmos and neurofibromatosis (von Recklinghausen). 61
13652533 1959
37
[Monolateral hydrophthalmos in a pair of monozygotic twins]. 61
13436633 1956
38
[Gonioscopy in various congenital abnormalities of the eyeball: criticism of the filtration theory of hydrophthalmos]. 61
13229155 1954
39
[The question of surgical treatment of hydrophthalmos]. 61
13202348 1954
40
[Studies on the inheritance of hydrophthalmos and of congenital cataract in villages of the Orobian foothills of the Aips]. 61
13113856 1954
41
[Four cases of congenital glaucoma or hydrophthalmos in one family]. 61
13156037 1953
42
Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity. 61
14884753 1952
43
[Hydrophthalmos associated with facial nevus]. 61
14776260 1950
44
A Collective Study of the Treatment of Congenital Hydrophthalmos. 61
16692688 1924
45
Hydrophthalmos (Buphthalmos or Infantile Glaucoma)-Report of a Case with Microscopic Findings. 61
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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.18 POMT2 POMT1 POMGNT1 PAX6 MPDU1 DPM3
2
Show member pathways
11.52 POMT2 POMT1 POMGNT1 DAG1
3 10.29 POMT2 POMT1 POMGNT1 FKTN

GO Terms for Hydrophthalmos

Cellular components related to Hydrophthalmos according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.56 MYOC LTBP3 LTBP2 DAG1
2 endoplasmic reticulum membrane GO:0005789 9.43 POMT2 POMT1 MPDU1 DPM3 DOLK CYP1B1
3 endoplasmic reticulum GO:0005783 9.17 POMT2 POMT1 MYOC FKTN DPM3 DOLK
4 node of Ranvier GO:0033268 9.16 MYOC DAG1

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

# Name GO ID Score Top Affiliating Genes
1 camera-type eye development GO:0043010 9.58 PITX2 PAX6 FOXC1
2 protein glycosylation GO:0006486 9.55 POMT2 POMT1 POMGNT1 FKTN DPM3
3 myelination in peripheral nervous system GO:0022011 9.48 MYOC DAG1
4 mannosylation GO:0097502 9.46 POMT2 POMT1
5 iris morphogenesis GO:0061072 9.43 PITX2 PAX6
6 positive regulation of core promoter binding GO:1904798 9.37 PAX6 FOXC1
7 lacrimal gland development GO:0032808 9.32 PAX6 FOXC1
8 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT2 POMT1
9 protein O-linked glycosylation GO:0006493 9.26 POMT2 POMT1 POMGNT1 FKTN
10 protein O-linked mannosylation GO:0035269 8.92 POMT2 POMT1 FKTN DPM3

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

# Name GO ID Score Top Affiliating Genes
1 mannosyltransferase activity GO:0000030 8.96 POMT2 POMT1
2 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.62 POMT2 POMT1

Sources for Hydrophthalmos

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
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