MCID: ERL012
MIFTS: 24

Early-Onset Glaucoma malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Early-Onset Glaucoma

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Aliases & Descriptions for Early-Onset Glaucoma:

Name: Early-Onset Glaucoma 24 66
 
Hereditary Glaucoma 24

Classifications:



Summaries for Early-Onset Glaucoma

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Genetics Home Reference:24 Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term "early-onset glaucoma" may be used when the disorder appears before the age of 40.

MalaCards based summary: Early-Onset Glaucoma, also known as hereditary glaucoma, is related to glaucoma 1a, primary open angle and acute contagious conjunctivitis. An important gene associated with Early-Onset Glaucoma is CYP1B1 (Cytochrome P450 Family 1 Subfamily B Member 1). Affiliated tissues include eye and brain, and related mouse phenotype reproductive system.

Related Diseases for Early-Onset Glaucoma

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Diseases in the Juvenile Glaucoma family:

Glaucoma 3, Primary Infantile, B Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, C Primary Congenital Glaucoma
Glaucoma Type 1c Glaucoma, Hereditary
Glaucoma, Hereditary Adult Type 1a Glaucoma, Hereditary Juvenile Type 1b
Glaucoma, Primary Infantile Type 3a Cyp1b1-Related Primary Congenital Glaucoma
Ltbp2-Related Primary Congenital Glaucoma early-onset glaucoma

Diseases related to Early-Onset Glaucoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1glaucoma 1a, primary open angle10.3CYP1B1, MYOC
2acute contagious conjunctivitis10.3CYP1B1, MYOC
3primary trimethylaminuria10.3CYP1B1, MYOC
4glaucoma 3a, primary open angle, congenital, juvenile, or adult onset10.3CYP1B1, MYOC
5secondary corneal edema10.2CYP1B1, MYOC
6chronic tympanitis10.2CYP1B1, PITX2
7iritis10.2CYP1B1, MYOC
8larsen-like syndrome10.1CYP1B1, PITX2
9hermansky-pudlak syndrome 510.1MTM1, SBF2
10singleton-merten syndrome 110.0
11iridogoniodysgenesis, type 210.0
12amyotrophic lateral sclerosis 1210.0CYP1B1, MYOC
13hypogonadotropic hypogonadism 24 without anosmia10.0CYP1B1, PITX2
14cataract10.0
15weber syndrome10.0
16charcot-marie-tooth neuropathy dominant intermediate f9.9SBF1, SBF2
17lactocele9.9CYP1B1, MYOC, PITX2
18peters anomaly9.9CYP1B1, MYOC, PITX2
19charcot-marie-tooth disease9.8
20tooth disease9.8
21separation anxiety disorder9.8CYP1B1, MYOC
22dejerine-sottas disease9.6MTMR2, SBF2
23charcot-marie-tooth neuropathy x type 19.4MTMR2, SBF1, SBF2
24amnestic disorder9.3MTMR2, SBF1, SBF2
25adams-oliver syndrome 28.8MTM1, MTMR2, SBF1, SBF2
26childhood-onset cerebral x-linked adrenoleukodystrophy8.8MTM1, MTMR2, SBF1, SBF2
27familial hyperaldosteronism7.5CYP1B1, MTM1, MTMR2, MYOC, PITX2, SBF1

Graphical network of the top 20 diseases related to Early-Onset Glaucoma:



Diseases related to early-onset glaucoma

Symptoms for Early-Onset Glaucoma

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Drugs & Therapeutics for Early-Onset Glaucoma

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Early-Onset Glaucoma

Genetic Tests for Early-Onset Glaucoma

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Anatomical Context for Early-Onset Glaucoma

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MalaCards organs/tissues related to Early-Onset Glaucoma:

34
Eye, Brain

Animal Models for Early-Onset Glaucoma or affiliated genes

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MGI Mouse Phenotypes related to Early-Onset Glaucoma:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.5MTM1, MTMR2, PITX2, SBF1, SBF2

Publications for Early-Onset Glaucoma

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Articles related to Early-Onset Glaucoma:

(show all 12)
idTitleAuthorsYear
1
Early-onset glaucoma in Axenfeld-Rieger anomaly: long-term surgical results and visual outcome. (27055677)
2016
2
Conditional deletion of AP-2I^ in mouse cranial neural crest results in anterior segment dysgenesis and early-onset glaucoma. (27483349)
2016
3
Thin central corneal thickness and early-onset glaucoma in lacrimo-auriculo-dento-digital syndrome. (24921174)
2014
4
Determinants of severity at presentation among young patients with early onset glaucoma. (24212304)
2013
5
Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b. (21282566)
2011
6
Incidence of early-onset glaucoma after infant cataract extraction with and without intraocular lens implantation. (19429583)
2009
7
Comparison of delayed-onset glaucoma and early-onset glaucoma after infantile cataract surgery. (16768189)
2006
8
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. (12687498)
2003
9
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. (11774072)
2002
10
Trabeculotomy-trabeculectomy for early-onset glaucoma. (10768320)
2000
11
Primary combined trabeculotomy-trabeculectomy for early-onset glaucoma in Sturge-Weber syndrome. (10442913)
1999
12
The efficacy of goniotomy/trabeculotomy in early-onset glaucoma associated with the Sturge-Weber syndrome. (10532726)
1998

Variations for Early-Onset Glaucoma

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Expression for genes affiliated with Early-Onset Glaucoma

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Search GEO for disease gene expression data for Early-Onset Glaucoma.

Pathways for genes affiliated with Early-Onset Glaucoma

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GO Terms for genes affiliated with Early-Onset Glaucoma

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Cellular components related to Early-Onset Glaucoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1vacuolar membraneGO:00057749.2MTMR2, SBF2

Biological processes related to Early-Onset Glaucoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol dephosphorylationGO:00468569.5MTM1, MTMR2
2phosphatidylinositol biosynthetic processGO:00066619.4MTM1, MTMR2
3protein tetramerizationGO:00512629.2MTMR2, SBF2
4peptidyl-tyrosine dephosphorylationGO:00353358.9MTM1, MTMR2
5protein dephosphorylationGO:00064708.2MTM1, MTMR2, SBF1

Molecular functions related to Early-Onset Glaucoma according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1phosphatase regulator activityGO:00192089.9SBF1, SBF2
2phosphatidylinositol bindingGO:00350919.8MTM1, SBF2
3phosphatidylinositol-3,5-bisphosphate 3-phosphatase activityGO:00526299.5MTM1, MTMR2
4phosphatidylinositol-3-phosphatase activityGO:00044389.5MTM1, MTMR2
5protein tyrosine/serine/threonine phosphatase activityGO:00081389.4MTMR2, SBF1
6Rab guanyl-nucleotide exchange factor activityGO:00171129.2SBF1, SBF2
7protein tyrosine phosphatase activityGO:00047259.0MTM1, MTMR2

Sources for Early-Onset Glaucoma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet