MCID: BPH001
MIFTS: 30

Buphthalmos malady

Categories: Eye diseases

Aliases & Classifications for Buphthalmos

Aliases & Descriptions for Buphthalmos:

Name: Buphthalmos 12 29 14
Simple Buphthalmos 12
Hydrophthalmos 69

Classifications:



External Ids:

Disease Ontology 12 DOID:11211
ICD9CM 35 743.21
UMLS 69 C0311251

Summaries for Buphthalmos

MalaCards based summary : Buphthalmos, also known as simple buphthalmos, is related to peters anomaly and glaucoma 3a, primary open angle, congenital, juvenile, or adult onset. An important gene associated with Buphthalmos is CYP1B1 (Cytochrome P450 Family 1 Subfamily B Member 1). The drugs Bevacizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye and endothelial.

Wikipedia : 71 Buphthalmos (plural: buphthalmoses) is enlargement of the eyeball and is most commonly seen in infants... more...

Related Diseases for Buphthalmos

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

(show top 50) (show all 65)
id Related Disease Score Top Affiliating Genes
1 peters anomaly 28.8 CYP1B1 FOXC1 LTBP2 MYOC OPTN
2 glaucoma 3a, primary open angle, congenital, juvenile, or adult onset 11.5
3 aniridia 11.1
4 glaucoma 3, primary congenital, e 10.8
5 sturge-weber syndrome, somatic, mosaic 10.8
6 glaucoma 3, primary congenital, d 10.8
7 hereditary xanthinuria 10.1 CYP1B1 MYOC
8 baraitser-winter syndrome 10.1 CYP1B1 OPTN
9 nuchal bleb, familial 10.1 LTBP2 OPTN
10 neurofibromatosis 10.1
11 cicatricial ectropion 10.1 HDAC9 OPTN
12 olecranon bursitis 10.1 LTBP2 OPTN
13 mechanical strabismus 10.1 MYOC OPTN
14 jph2-related familial hypertrophic cardiomyopathy 10.1 CYP1B1 FOXC1
15 scapuloperoneal syndrome, myopathic type 10.0 FOXC1 OPTN
16 thyroid dyshormonogenesis 3 10.0 FOXC1 OPTN
17 meier-gorlin syndrome 1 10.0 HDAC9 OPTN
18 cornelia de lange syndrome 5 10.0 CYP1B1 OPTN
19 morbid obesity and spermatogenic failure 10.0 MYOC OPTN
20 splenic tuberculosis 10.0 MYOC OPTN
21 pituitary hormone deficiency, combined, 4 10.0 CYP1B1 MYOC OPTN
22 acute poststreptococcal glomerulonephritis 10.0 CYP1B1 MYOC OPTN
23 lactocele 10.0 CYP1B1 MYOC OPTN
24 colorectal cancer 5 10.0 CYP1B1 MYOC OPTN
25 primary congenital glaucoma 9.9
26 allergic contact dermatitis of eyelid 9.9 MYOC OPTN
27 nutmeg liver 9.9 FBXO7 OPTN
28 cataract 9.9
29 deafness, autosomal recessive 91 9.9 CYP1B1 FOXC1 OPTN
30 pelvic varices 9.9 FBXO7 OPTN
31 myopia 7 9.9 CYP1B1 FOXC1
32 skin granular cell tumor 9.8 FOXC1 HDAC9 OPTN
33 retinoblastoma 9.8
34 opisthorchiasis 9.8 CYP1B1 LTBP2 MYOC OPTN
35 red-green color vision defects 9.8 CYP1B1 FOXC1 LTBP2 MYOC
36 choroiditis 9.8
37 endotheliitis 9.8
38 hypertrophy of breast 9.7 CYP1B1 FOXC1 MYOC OPTN
39 muir-torre syndrome 9.7 CYP1B1 FOXC1 HDAC9 MYOC
40 anisometropia 9.6
41 split foot 9.6
42 entropion 9.6
43 split hand 9.6
44 ectropion 9.6
45 retinitis 9.6
46 syphilis 9.6
47 bilateral retinoblastoma 9.6
48 ganglioneuroma 9.6
49 marfan syndrome 9.6
50 elephantiasis 9.6

Graphical network of the top 20 diseases related to Buphthalmos:



Diseases related to Buphthalmos

Symptoms & Phenotypes for Buphthalmos

Drugs & Therapeutics for Buphthalmos

Drugs for Buphthalmos (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 Buphthalmos

Genetic Tests for Buphthalmos

Genetic tests related to Buphthalmos:

id Genetic test Affiliating Genes
1 Buphthalmos 29

Anatomical Context for Buphthalmos

MalaCards organs/tissues related to Buphthalmos:

39
Eye, Endothelial

Publications for Buphthalmos

Articles related to Buphthalmos:

(show top 50) (show all 76)
id Title Authors Year
1
Cataract surgery in children with Buphthalmos. ( 26992154 )
2016
2
Pediatric cataract surgery in buphthalmos. ( 25588589 )
2015
3
Unilateral congenital buphthalmos. ( 26040832 )
2015
4
Choroidal Ganglioneuroma and Orbital Plexiform Neurofibroma Presenting as Buphthalmos in an Infant With Neurofibromatosis Type 1. ( 25186217 )
2014
5
Descemet stripping automated endothelial keratoplasty for endothelial decompensation in buphthalmos. ( 23752062 )
2013
6
Corneal changes assessed using confocal microscopy in patients with unilateral buphthalmos. ( 23696604 )
2013
7
Markedly asymmetric buphthalmos but without anisometropia in a girl with primary congenital glaucoma. ( 24054041 )
2013
8
Buphthalmos development in adult: case report. ( 23471335 )
2012
9
Childhood orbitotemporal neurofibromatosis masked by congenital glaucoma and buphthalmos. ( 21766740 )
2011
10
Buphthalmos: early glaucoma history. ( 20529079 )
2011
11
Globe salvage using chemoreduction for advanced retinoblastoma in a glaucomatous eye with buphthalmos. ( 25390824 )
2009
12
Adult onset buphthalmos in a patient with marfan syndrome. ( 18854734 )
2008
13
Regeneration of retinal ganglion cell axons in organ culture is increased in rats with hereditary buphthalmos. ( 17490648 )
2007
14
Buphthalmos following systemic steroid treatment. ( 17022166 )
2006
15
Phthisis bulbi and buphthalmos as presenting signs of retinoblastoma: a report of two cases and literature review. ( 16761252 )
2006
16
Buphthalmos in trisomy 13. ( 15184965 )
2005
17
What's your diagnosis? Buphthalmos with neurofibromatosis (NF-1). ( 15977864 )
2005
18
Bilateral retinoblastoma presenting with simultaneous phthisis bulbi and buphthalmos. ( 12795436 )
2003
19
Buphthalmos in the setting of persistent hyperplastic primary vitreous cataract. ( 14597061 )
2003
20
Penetrating keratoplasty for endothelial decompensation in eyes with buphthalmos. ( 12658082 )
2003
21
Emmetropisation after Molteno implant insertion for buphthalmos. ( 11561554 )
2001
22
Spontaneous buphthalmos in the Djungarian hamster (Phodopus sungorus campbelli). ( 11397273 )
1999
23
Congenital unilateral buphthalmos in Walker-Warburg syndrome: a clinicopathological study. ( 10707144 )
1999
24
The effect of buphthalmos on orbital growth in early childhood: increased orbital soft tissue volume strongly correlates with increased orbital volume. ( 10532365 )
1998
25
Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. ( 9097971 )
1997
26
A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. ( 8842741 )
1996
27
Exclusion of primary congenital glaucoma (buphthalmos) from two candidate regions of chromosome arm 6p and chromosome 11. ( 8741877 )
1996
28
Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. ( 8586416 )
1995
29
Choroidal neurofibromatosis with congenital iris ectropion and buphthalmos: relationship and significance. ( 1955961 )
1991
30
Congenital ectopia lentis and secondary buphthalmos likely occurring as an autosomal recessive trait. ( 1776417 )
1991
31
Congenital nephrotic syndrome with congenital buphthalmos: a new genetic entity? ( 2503834 )
1989
32
Split hand/split foot syndrome with atresia of nasolacrimal ducts and buphthalmos. ( 2630451 )
1989
33
Transplantation of congenitally opaque corneas from eyes with exaggerated buphthalmos. ( 2658620 )
1989
34
Buphthalmos and progressive elephantiasis in neurofibromatosis. A report of three cases. ( 2516898 )
1989
35
Buphthalmos in a Thoroughbred foal. ( 3371317 )
1988
36
Congenital glaucoma and buphthalmos in a child with neurofibromatosis. ( 2972754 )
1988
37
Congenital corneal opacity (Peters' anomaly) combined with buphthalmos and aniridia. ( 3934622 )
1985
38
Evaluation of trabeculectomy in buphthalmos. ( 7311658 )
1981
39
Neurofibromatosis with congenital glaucoma and buphthalmos in a newborn. ( 6766271 )
1980
40
Buphthalmos in neurofibromatosis: is it an expression of regional giantism? ( 408473 )
1977
41
Buphthalmos (congenital glaucoma) in the rat. ( 4810782 )
1974
42
Induction of buphthalmos in chicks fed an excess of glycine. ( 4708783 )
1973
43
Recombination between buphthalmos and albino loci in the rabbit. ( 4782848 )
1973
44
Adrenogenital syndrome and buphthalmos. ( 5572270 )
1971
45
Chorioretinitis and buphthalmos in turkeys. ( 5091488 )
1971
46
Reflections on buphthalmos and goniotomy. ( 5283442 )
1970
47
Intraocular pressure and aqueous outflow facility in light-induced avian buphthalmos. ( 5428815 )
1970
48
Congenital buphthalmos: report of 3 cases successfully decompressed by ordinary methods. ( 5520172 )
1970
49
Buphthalmos in rubella. A surgical complication. ( 5763314 )
1969
50
Cyclo trabeculotomy ab-interno for buphthalmos. ( 5375787 )
1969

Variations for Buphthalmos

Expression for Buphthalmos

Search GEO for disease gene expression data for Buphthalmos.

Pathways for Buphthalmos

GO Terms for Buphthalmos

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

id Name GO ID Score Top Affiliating Genes
1 collagen fibril organization GO:0030199 8.62 CYP1B1 FOXC1

Molecular functions related to Buphthalmos 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 Buphthalmos

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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