MCID: HYD007
MIFTS: 35

Hydrophthalmos

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Hydrophthalmos

MalaCards integrated aliases for Hydrophthalmos:

Name: Hydrophthalmos 12 44 15 17 70

Classifications:



External Ids:

Disease Ontology 12 DOID:11212
MeSH 44 D006871
NCIt 50 C50648
SNOMED-CT 67 392368005
ICD10 32 Q15.0
UMLS 70 C0020302

Summaries for Hydrophthalmos

Disease Ontology : 12 A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.

MalaCards based summary : Hydrophthalmos is related to juvenile glaucoma and intraocular pressure quantitative trait locus, and has symptoms including early vision loss An important gene associated with Hydrophthalmos is B3GNT2 (UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 2), and among its related pathways/superpathways are O-linked glycosylation and Mannose type O-glycan biosynthesis. The drugs tannic acid and Travoprost have been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related phenotypes are embryo and mortality/aging

Wikipedia : 73 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 107)
# Related Disease Score Top Affiliating Genes
1 juvenile glaucoma 30.4 WDR36 PITX2 PAX6 MYOC LTBP3 LTBP2
2 intraocular pressure quantitative trait locus 29.5 WDR36 PITX2 PAX6 MYOC LTBP2 FOXC1
3 myopia 29.5 WDR36 PAX6 MYOC LTBP2
4 cataract 28.8 SRD5A3 PITX2 PAX6 OCRL FOXC1
5 glaucoma 3, primary congenital, a 27.6 WDR36 SRD5A3 POMT2 POMT1 PITX2 PAX6
6 glaucoma 3, primary infantile, b 10.3 LTBP2 CYP1B1
7 glaucoma 1, open angle, a 10.3 MYOC CYP1B1
8 congenital muscular dystrophy with intellectual disability 10.3 POMT2 POMT1
9 congenital muscular dystrophy with cerebellar involvement 10.3 POMT2 POMT1
10 acute closed-angle glaucoma 10.3 MYOC CYP1B1
11 geleophysic dysplasia 3 10.3 LTBP3 LTBP2
12 geleophysic dysplasia 1 10.3 LTBP3 LTBP2
13 witkop syndrome 10.2 LTBP3 LTBP2
14 traumatic glaucoma 10.2 MYOC LTBP2 CYP1B1
15 geleophysic dysplasia 2 10.2 LTBP3 LTBP2
16 congenital muscular dystrophy-dystroglycanopathy type a5 10.2 DAG1 B3GNT2
17 corneal edema 10.2 MYOC LTBP2 CYP1B1
18 glaucoma 1, open angle, d 10.2 MYOC LTBP2 CYP1B1
19 early-onset glaucoma 10.2 PITX2 MYOC CYP1B1
20 peripheral retinal degeneration 10.2 WDR36 MYOC
21 autosomal recessive cutis laxa type i 10.2 LTBP3 LTBP2
22 steroid-induced glaucoma 10.2 WDR36 MYOC CYP1B1
23 otopalatodigital syndrome, type ii 10.1 PITX2 FOXC1
24 glaucoma, normal tension 10.1 WDR36 MYOC CYP1B1
25 congenital muscular dystrophy without intellectual disability 10.1 POMT1 FKTN
26 axenfeld-rieger syndrome, type 2 10.1 WDR36 PITX2 FOXC1
27 cardiomyopathy, dilated, 1d 10.1 POMT2 POMT1 DAG1
28 isolated aniridia 10.1 PAX6 FOXC1
29 congenital muscular dystrophy-dystroglycanopathy type a2 10.1 POMT2 POMT1 DPM3
30 congenital muscular dystrophy-dystroglycanopathy type a3 10.1 POMT2 POMT1 DPM3
31 cornea plana 10.0 PITX2 FOXC1
32 brachyolmia 10.0 LTBP3 LTBP2
33 congenital disorder of glycosylation, type im 10.0 SRD5A3 DPM3
34 acquired color blindness 10.0 PITX2 PAX6 FOXC1
35 cardiomyopathy, dilated, 1x 10.0 FKTN DAG1
36 axenfeld-rieger syndrome, type 1 10.0 PITX2 PAX6 FOXC1
37 anterior segment dysgenesis 5 10.0 PAX6 CYP1B1
38 intestinal atresia 10.0 PITX2 PAX6 FOXC1
39 gillespie syndrome 10.0 PITX2 PAX6 FOXC1
40 muscular dystrophy, congenital, 1b 10.0 FKTN DAG1
41 persistent hyperplastic primary vitreous 10.0 PITX2 PAX6 FOXC1
42 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.0 PITX2 PAX6 FOXC1
43 tooth agenesis 10.0 PITX2 LTBP3 LTBP2 FOXC1
44 corneal disease 10.0 PITX2 PAX6 FOXC1
45 sclerocornea 10.0 PITX2 PAX6
46 nanophthalmos 10.0 WDR36 PAX6 MYOC
47 muscular dystrophy, becker type 9.9 FKTN DAG1 B3GNT2
48 acromicric dysplasia 9.9 LTBP3 LTBP2
49 autosomal recessive limb-girdle muscular dystrophy type 2d 9.9 POMT1 FKTN DAG1
50 open-angle glaucoma 9.9 WDR36 MYOC LTBP2 FOXC1 CYP1B1

Graphical network of the top 20 diseases related to Hydrophthalmos:



Diseases related to Hydrophthalmos

Symptoms & Phenotypes for Hydrophthalmos

Symptoms:

12
  • early vision loss

MGI Mouse Phenotypes related to Hydrophthalmos:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.81 DAG1 FKTN FOXC1 PAX6 PITX2 POMT1
2 mortality/aging MP:0010768 9.77 DAG1 DPM3 FKTN FOXC1 LTBP2 LTBP3
3 vision/eye MP:0005391 9.36 CYP1B1 DAG1 FOXC1 LTBP2 LTBP3 MAB21L1

Drugs & Therapeutics for Hydrophthalmos

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 3 1401-55-4
2
Travoprost Approved Phase 3 157283-68-6 5282226
3
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
4
Timolol Approved Phase 3 26839-75-8 33624 5478
5 Pharmaceutical Solutions Phase 3
6 Anti-Arrhythmia Agents Phase 3
7 Adrenergic Antagonists Phase 3
8 Adrenergic beta-Antagonists Phase 3
9 Ophthalmic Solutions Phase 3
10 Adrenergic Agents Phase 3
11 Neurotransmitter Agents Phase 3
12 Antihypertensive Agents Phase 3
13 Antibiotics, Antitubercular
14 Alkylating Agents
15 Mitomycins
16 Anti-Bacterial Agents

Interventional clinical trials:

(show all 18)
# 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 Comparison Between The Outcome of Deep Sclerectomy and Traditional Trabeculotomy and Trabeculectomy Surgeries in Congenital Glaucoma Unknown status NCT01460017 Phase 1
4 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
5 Study of Gene, Inheritance Pattern and Genotype - Phenotype Correlations in South Korean Patients With Primary Congenital Glaucoma Unknown status NCT01020721
6 Randomized Controlled Study to Evaluate Safety and Efficacy of Ologen® Collagen Matrix in Patients With Primary Congenital Glaucoma Undergoing Trabeculectomy Unknown status NCT03541551
7 Genetic Testing in Primary Congenital Glaucoma Patients Unknown status NCT01136460
8 Microcatheter Assisted Circumferential Trabeculotomy in Congenital Glaucoma Completed NCT04116450
9 Surgical Outcomes of Visco-Circumferential-Suture-Trabeculotomy in Primary Congenital Glaucoma: A 3-year Randomized Controlled Study Completed NCT04683289
10 Endoscopic Goniotomy for Infantile Glaucoma Completed NCT00338533
11 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
12 Histopathological Examination of Iris Tissue in Buphthalmos Completed NCT04011878
13 INTEGRAL Study: A Longitudinal Study of Surgeries and Lasers in Glaucoma: Long-term Results and Success Predictors Analysed From a Large-scale Retrospective and Prospective Glaucoma Register Recruiting NCT04381611
14 Prospective Study of the Diagnostic and Therapeutic Management of Congenital Glaucoma in France Recruiting NCT03077789
15 Determination of the Sensitivity and Specificity of a Smartphone Application to Detect Retinoblastoma Active, not recruiting NCT03016156
16 Histopathological Examination of Iris Tissue in Primary Congenital Glaucoma Not yet recruiting NCT04079725
17 Surgery for Primary Congenital Glaucoma in Neonates:Randomized Controlled Study. Not yet recruiting NCT04709497
18 Comparison of Surgical Treatment Options for Primary Congenital and Developmental Glaucomas Not yet recruiting NCT04647929

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, Brain

Publications for Hydrophthalmos

Articles related to Hydrophthalmos:

(show all 46)
# 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
[The use of ultrasonics in the diagnosis and assessment of the efficacy of therapy of hydrophthalmos]. 61
5616982 1967
24
[Goniotomy in hydrophthalmos performed by the use of a gonioscope of own construction]. 61
5589491 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
Hydrophthalmos in fish. 61
13578340 1958
38
[Monolateral hydrophthalmos in a pair of monozygotic twins]. 61
13436633 1956
39
[Gonioscopy in various congenital abnormalities of the eyeball: criticism of the filtration theory of hydrophthalmos]. 61
13229155 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
[The question of surgical treatment of hydrophthalmos]. 61
13202348 1954
42
[Four cases of congenital glaucoma or hydrophthalmos in one family]. 61
13156037 1953
43
Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity. 61
14884753 1952
44
[Hydrophthalmos associated with facial nevus]. 61
14776260 1950
45
A Collective Study of the Treatment of Congenital Hydrophthalmos. 61
16692688 1924
46
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
11.52 POMT2 POMT1 DAG1 B3GNT2
2 10.16 POMT2 POMT1 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 9.46 MYOC LTBP3 LTBP2 DAG1
2 endoplasmic reticulum GO:0005783 9.17 SRD5A3 POMT2 POMT1 MYOC FKTN DPM3
3 node of Ranvier GO:0033268 8.96 MYOC DAG1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 anatomical structure morphogenesis GO:0009653 9.69 PITX2 MAB21L1 FOXC1
2 eye development GO:0001654 9.54 PAX6 MAB21L1 FOXC1
3 protein O-linked glycosylation GO:0006493 9.5 POMT2 POMT1 FKTN
4 myelination in peripheral nervous system GO:0022011 9.49 MYOC DAG1
5 mannosylation GO:0097502 9.48 POMT2 POMT1
6 iris morphogenesis GO:0061072 9.46 PITX2 PAX6
7 camera-type eye development GO:0043010 9.46 PITX2 PAX6 MAB21L1 FOXC1
8 positive regulation of core promoter binding GO:1904798 9.43 PAX6 FOXC1
9 protein glycosylation GO:0006486 9.43 SRD5A3 POMT2 POMT1 FKTN DPM3 B3GNT2
10 lacrimal gland development GO:0032808 9.4 PAX6 FOXC1
11 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT2 POMT1
12 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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