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 25 68
 
Hereditary Glaucoma 25

Classifications:



Summaries for Early-Onset Glaucoma

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Genetics Home Reference:25 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 singleton-merten syndrome 1 and iridogoniodysgenesis, type 2. An important gene associated with Early-Onset Glaucoma is MTMR2 (Myotubularin Related Protein 2). 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 28)
idRelated DiseaseScoreTop Affiliating Genes
1singleton-merten syndrome 110.9
2iridogoniodysgenesis, type 210.9
3iridogoniodysgenesis, type 110.9
4glaucoma 1a, primary open angle10.2CYP1B1, MYOC
5acute contagious conjunctivitis10.1CYP1B1, MYOC
6primary trimethylaminuria10.1CYP1B1, MYOC
7glaucoma 3a, primary open angle, congenital, juvenile, or adult onset10.1CYP1B1, MYOC
8secondary corneal edema10.1CYP1B1, MYOC
9hermansky-pudlak syndrome 510.0MTM1, SBF2
10iritis10.0CYP1B1, MYOC
11dejerine-sottas disease9.9MTMR2, SBF2
12chronic tympanitis9.9CYP1B1, PITX2
13cataract9.8
14weber syndrome9.8
15amyotrophic lateral sclerosis 129.8CYP1B1, MYOC
16larsen-like syndrome9.8CYP1B1, PITX2
17charcot-marie-tooth neuropathy dominant intermediate f9.7SBF1, SBF2
18charcot-marie-tooth disease9.7
19tooth disease9.7
20charcot-marie-tooth neuropathy x type 19.7MTMR2, SBF1, SBF2
21separation anxiety disorder9.6CYP1B1, MYOC
22hypogonadotropic hypogonadism 24 without anosmia9.6CYP1B1, PITX2
23amnestic disorder9.6MTMR2, SBF1, SBF2
24lactocele9.5CYP1B1, MYOC, PITX2
25peters anomaly9.5CYP1B1, MYOC, PITX2
26adams-oliver syndrome 29.3MTM1, MTMR2, SBF1, SBF2
27childhood-onset cerebral x-linked adrenoleukodystrophy9.3MTM1, MTMR2, SBF1, SBF2
28familial hyperaldosteronism7.8CYP1B1, MTM1, MTMR2, MYOC, PITX2, SBF1

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



Diseases related to early-onset glaucoma

Symptoms & Phenotypes for Early-Onset Glaucoma

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MGI Mouse Phenotypes related to Early-Onset Glaucoma according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.7MTM1, MTMR2, PITX2, SBF1, SBF2

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:

36
Eye, Brain

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:00057749.5MTMR2, SBF2

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

idNameGO IDScoreTop Affiliating Genes
1peptidyl-tyrosine dephosphorylationGO:003533510.3MTM1, MTMR2
2phosphatidylinositol biosynthetic processGO:000666110.2MTM1, MTMR2
3phosphatidylinositol dephosphorylationGO:004685610.2MTM1, MTMR2
4protein dephosphorylationGO:00064709.6MTM1, MTMR2, SBF1
5protein tetramerizationGO:00512629.5MTMR2, SBF2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-3-phosphatase activityGO:000443810.2MTM1, MTMR2
2phosphatidylinositol-3,5-bisphosphate 3-phosphatase activityGO:005262910.2MTM1, MTMR2
3protein tyrosine phosphatase activityGO:000472510.1MTM1, MTMR2
4phosphatidylinositol bindingGO:003509110.0MTM1, SBF2
5protein tyrosine/serine/threonine phosphatase activityGO:000813810.0MTMR2, SBF1
6phosphatase regulator activityGO:00192089.9SBF1, SBF2
7Rab guanyl-nucleotide exchange factor activityGO:00171129.3SBF1, SBF2

Sources for Early-Onset Glaucoma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet