MCID: ABS022
MIFTS: 33

Absolute Glaucoma

Categories: Neuronal diseases

Aliases & Classifications for Absolute Glaucoma

MalaCards integrated aliases for Absolute Glaucoma:

Name: Absolute Glaucoma 12
Blind Hypertensive Eye 12
Glaucoma Absolute 54

Classifications:



External Ids:

Disease Ontology 12 DOID:11776
ICD9CM 34 360.42
SNOMED-CT 67 264008
ICD10 32 H44.519
UMLS 71 C0154789

Summaries for Absolute Glaucoma

Disease Ontology : 12 A glaucoma that is characterized by a total loss of vision, uncontrolled pressure in the eye, severe pain in the eye, absence of pupillary light reflex, absence of pupillary response, and the eye has a stony appearance.

MalaCards based summary : Absolute Glaucoma, also known as blind hypertensive eye, is related to intraocular pressure quantitative trait locus and exfoliation syndrome. An important gene associated with Absolute Glaucoma is CTSA (Cathepsin A), and among its related pathways/superpathways are TNFR1 Pathway and PI3K-Akt signaling pathway. Affiliated tissues include eye, retina and ciliary ganglion, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and Increased viability with MLN4924 (a NAE inhibitor)

Related Diseases for Absolute Glaucoma

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

(show all 43)
# Related Disease Score Top Affiliating Genes
1 intraocular pressure quantitative trait locus 10.6
2 exfoliation syndrome 10.0
3 yemenite deaf-blind hypopigmentation syndrome 10.0
4 cataract 10.0
5 benign mammary dysplasia 10.0 BCL2 BAK1
6 central pontine myelinolysis 9.9 BCL2 BAK1
7 glaucoma, primary open angle 9.9
8 keratitis, hereditary 9.9
9 marfan syndrome 9.9
10 melanoma, uveal 9.9
11 microvascular complications of diabetes 5 9.9
12 open-angle glaucoma 9.9
13 arteriosclerosis 9.9
14 retinal vascular disease 9.9
15 homocystinuria 9.9
16 extramedullary plasmacytoma 9.9 BCL2L1 BCL2
17 kashin-beck disease 9.7 BCL2 BAX
18 malignant teratoma 9.7 BCL2 BAX
19 parkinson disease, mitochondrial 9.6 BCL2L1 BAX
20 cartilage-hair hypoplasia 9.6 BCL2 BAX
21 prostatitis 9.6 BCL2 BAX
22 shigellosis 9.6 BCL2 BAX
23 retinal ischemia 9.6 BCL2L1 BAX
24 fuchs' endothelial dystrophy 9.4 BCL2 BAX
25 indolent b-cell non-hodgkin lymphoma 9.3 BCL2L1 BAX BAK1
26 breast disease 9.3 BCL2 BAX BAK1
27 alk-negative anaplastic large cell lymphoma 9.3 BCL2L1 BCL2 BAX
28 focal cortical dysplasia, type ii 9.3 BCL2L1 BCL2 BAX
29 adenocarcinoma 9.3 BCL2L1 BCL2 BAX
30 basal cell carcinoma 9.3 BCL2 BAX BAK1
31 follicular lymphoma 9.3 BCL2L1 BCL2 BAX
32 colon adenocarcinoma 9.2 BCL2L1 BCL2 BAX
33 burkitt lymphoma 9.2 BCL2L1 BCL2 BAX
34 nasopharyngeal carcinoma 9.1 BCL2L1 BCL2 BAX
35 acute promyelocytic leukemia 9.1 BCL2L1 BCL2 BAX
36 leukemia, acute lymphoblastic 9.0 BCL2L1 BCL2 BAX
37 gastric adenocarcinoma 9.0 BCL2L1 BCL2 BAX
38 breast adenocarcinoma 8.9 BCL2L1 BCL2 BAX BAK1
39 b-cell lymphoma 8.9 BCL2L1 BCL2 BAX BAK1
40 lymphoma, non-hodgkin, familial 8.9 BCL2L1 BCL2 BAX BAK1
41 leukemia, chronic lymphocytic 8.9 BCL2L1 BCL2 BAX BAK1
42 cervical cancer 8.9 BCL2L1 BCL2 BAX BAK1
43 pancreatic cancer 8.4 BCL2L1 BCL2 BAX BAK1

Graphical network of the top 20 diseases related to Absolute Glaucoma:



Diseases related to Absolute Glaucoma

Symptoms & Phenotypes for Absolute Glaucoma

GenomeRNAi Phenotypes related to Absolute Glaucoma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 9.28 BAX BCL2
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 9.28 BAK1 BAX BCL2 BCL2L1
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.28 BAK1 BAX BCL2

MGI Mouse Phenotypes related to Absolute Glaucoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 BAK1 BAX BCL2 BCL2L1 CTSA
2 cellular MP:0005384 9.77 BAK1 BAX BCL2 BCL2L1 CTSA
3 hematopoietic system MP:0005397 9.72 BAK1 BAX BCL2 BCL2L1 CTSA
4 immune system MP:0005387 9.65 BAK1 BAX BCL2 BCL2L1 CTSA
5 neoplasm MP:0002006 9.46 BAK1 BAX BCL2 BCL2L1
6 renal/urinary system MP:0005367 9.26 BAK1 BAX BCL2 CTSA
7 reproductive system MP:0005389 9.02 BAK1 BAX BCL2 BCL2L1 CTSA

Drugs & Therapeutics for Absolute Glaucoma

Search Clinical Trials , NIH Clinical Center for Absolute Glaucoma

Genetic Tests for Absolute Glaucoma

Anatomical Context for Absolute Glaucoma

MalaCards organs/tissues related to Absolute Glaucoma:

40
Eye, Retina, Ciliary Ganglion

Publications for Absolute Glaucoma

Articles related to Absolute Glaucoma:

(show top 50) (show all 118)
# Title Authors PMID Year
1
Bcl-xl and Bak protein expression in human optic nerve axons in eyeballs post-trauma and in the eyes with absolute glaucoma. 54 61
15638362 2004
2
Bcl-2 and Bax protein expression in human optic nerve axons in the eyeballs after severe trauma and in the eyes with absolute glaucoma. 54 61
15638363 2004
3
[The expression of Bcl-2, Bcl-xl, Bak and Bax proteins in axons of the optic nerve in closed-angle glaucoma]. 61 54
15510481 2004
4
[Cathepsin A activity in the aqueous humor in patients with cataract, absolute glaucoma and intraocular tumors]. 61 54
10526436 1999
5
[Cathepsin A activity in the vitreous body of patients with absolute glaucoma and intraocular tumors]. 61 54
10526437 1999
6
Update: Incidence of Glaucoma Diagnoses, Active Component, U.S. Armed Forces, 2013-2017. 61
30807198 2019
7
Spontaneous expulsive suprachoroidal haemorrhage in an asymptomatic elderly patient: a case report. 61
29197945 2019
8
Triglycerides and Open Angle Glaucoma - A Meta-analysis with meta-regression. 61
28798341 2017
9
Bleb-like Finding Caused by Idiopathic Scleral Thinning in an Eye With Absolute Glaucoma. 61
26550966 2016
10
Metalloproteinase 9 and TIMP-1 expression in retina and optic nerve in absolute angle closure glaucoma. 61
26342670 2016
11
Ciliary body imaging with transpalpebral near-infrared transillumination – a pilot study. 61
30088380 2016
12
Indications for eye removal surgeries. A 15-year experience at a tertiary military hospital. 61
26446332 2015
13
Ocular Trauma Score in Siderosis Bulbi With Retained Intraocular Foreign Body. 61
26426616 2015
14
CLINICAL IMPACT IN THE MANAGEMENT OF NEOVASCULAR GLAUCOMA. 61
26978883 2015
15
Pain management with retrobulbar alcohol injection in absolute glaucoma. 61
26060172 2015
16
Glaucoma, active component, U.S. Armed Forces, 1998-2013. 61
25555211 2014
17
[Vitreous cavity drainage in absolute painful glaucoma (clinical case)]. 61
24624807 2013
18
A survey of ocular diseases in an isolated rural Haitian community: a retrospective evaluation. 61
23560356 2012
19
A clinically challenging diagnosis of adenoma of the retinal pigment epithelium presenting with clinical features of choroidal hemangioma. 61
22536043 2012
20
Indications for destructive eye surgeries at the Yaounde Gynaeco-Obstetric and Paediatric Hospital. 61
21607025 2011
21
The expressions of Fas and caspase-3 in human glaucomatous optic nerve axons. 61
19043361 2008
22
Green cataract. 61
16606889 2006
23
Scanning laser polarimetry for measurement of retinal nerve fiber layer in absolute, advanced and early glaucoma. 61
16767964 2006
24
Goniotomy ab interno "a glaucoma filtering surgery" using the Fugo Plasma Blade. 61
17416956 2006
25
Exfoliation syndrome in Nordic countries: a comparative histopathological study of Danish and Finnish eyes with absolute glaucoma and uveal melanoma. 61
16396649 2005
26
Light and electron microscopic studies on human retinal blood vessels of patients with sclerosis and hypertension. 61
17294245 2005
27
Clinical analysis of glaucoma in hospital patients. 61
18650586 2005
28
The Eye in the Old Testament and Talmud. 61
15231401 2004
29
Pars plana vitrectomy and lamina cribrosa puncture in absolute glaucoma. 61
15185794 2004
30
[Treatment of uveal effusion syndrome after filtering surgery (2 case reports)]. 61
15185452 2004
31
[A case of sympathetic ophthalmia secondary to silicone oil granuloma]. 61
13677297 2003
32
[Histopathologic aspects of degenerative and inflammatory disease of cornea]. 61
12886688 2003
33
Intraocular osseous metaplasia. A clinico-pathological study. 61
12355691 2002
34
[Result of operations for hyper-mature cataract complicated with phacolytic glaucoma]. 61
12664478 2002
35
Enucleation in a tertiary eye care centre in India: prevalence, current indications and clinicopathological correlation. 61
11826998 2001
36
[Diffuse melanocytic nevus of the iris and absolute glaucoma]. 61
11590473 2001
37
[A pathological study of lens subcapsular epithelial proliferation]. 61
11864426 2001
38
Optic nerve head behavior in Posner-Schlossman syndrome. 61
11944864 2001
39
A comparative evaluation of Humphrey perimetry and the multi-channel pattern visual evoked potentials. 61
12579641 2000
40
Retinal nerve fiber layer thickness in human eyes. 61
10379607 1999
41
[Retinal and corneal dysplasias in the Yorkshire terrier and other dog breeds in Austria]. 61
9157632 1997
42
Presumed noninfectious endophthalmitis after cataract surgery. 61
9051508 1996
43
[Fuchs' heterochromic cyclitis. Clinico-histopathologic findings of nodular iritis]. 61
8992078 1996
44
[Primary glaucoma in two German hunting terriers and a wire-haired fox terrier]. 61
8650691 1996
45
[An ultrastructural study on human retina with late glaucoma]. 61
8758388 1996
46
SEM studies of the collagen architecture of the human lamina cribrosa: normal and pathological findings. 61
8738456 1996
47
Cathepsin A activity of normal bovine ocular tissues and pathological human intraocular fluids. 61
9104505 1996
48
[The efficacy of a microtrabecular prosthesis in the surgery of refractory glaucomas]. 61
7577902 1995
49
[Cyclocryocoagulation in treatment of special types of glaucoma]. 61
7549347 1995
50
Optic nerve fiber count and diameter of the retrobulbar optic nerve in normal and glaucomatous eyes. 61
7557506 1995

Variations for Absolute Glaucoma

Expression for Absolute Glaucoma

Search GEO for disease gene expression data for Absolute Glaucoma.

Pathways for Absolute Glaucoma

Pathways related to Absolute Glaucoma according to GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.85 BCL2L1 BCL2 BAX BAK1
2
Show member pathways
12.77 BCL2L1 BCL2 BAX BAK1
3
Show member pathways
12.73 BCL2L1 BCL2 BAX BAK1
4
Show member pathways
12.66 BCL2L1 BCL2 BAX BAK1
5 12.62 BCL2L1 BCL2 BAX BAK1
6
Show member pathways
12.6 BCL2L1 BCL2 BAX BAK1
7 12.58 BCL2L1 BCL2 BAX BAK1
8
Show member pathways
12.54 BCL2L1 BCL2 BAX BAK1
9
Show member pathways
12.53 BCL2L1 BCL2 BAX BAK1
10
Show member pathways
12.51 BCL2L1 BCL2 BAX
11
Show member pathways
12.48 BCL2 BAX BAK1
12
Show member pathways
12.47 BCL2L1 BCL2 BAX BAK1
13
Show member pathways
12.43 BCL2L1 BCL2 BAX
14
Show member pathways
12.4 BCL2L1 BCL2 BAX
15
Show member pathways
12.38 BCL2L1 BCL2 BAX
16
Show member pathways
12.31 BCL2L1 BCL2 BAX
17
Show member pathways
12.28 BCL2L1 BCL2 BAX
18 12.23 BCL2L1 BCL2 BAX
19
Show member pathways
12.21 BCL2L1 BCL2 BAX
20 12.14 BCL2 BAX BAK1
21 12.11 BCL2L1 BAX BAK1
22
Show member pathways
12.07 BCL2L1 BCL2 BAX BAK1
23
Show member pathways
12.05 BCL2L1 BCL2 BAX
24 12.05 BCL2L1 BCL2 BAX BAK1
25 12.04 BCL2 BAX BAK1
26 12 BCL2 BAX BAK1
27 11.91 BCL2 BAX BAK1
28 11.84 BCL2 BAX BAK1
29
Show member pathways
11.83 BCL2L1 BCL2 BAX BAK1
30 11.73 BCL2L1 BCL2
31 11.72 BCL2 BAX
32 11.71 BCL2L1 BCL2 BAX
33
Show member pathways
11.7 BCL2L1 BCL2
34 11.67 BCL2L1 BCL2 BAX BAK1
35 11.61 BCL2L1 BAX BAK1
36
Show member pathways
11.59 BCL2L1 BCL2 BAX BAK1
37
Show member pathways
11.57 BCL2L1 BCL2
38
Show member pathways
11.54 BCL2L1 BCL2
39 11.49 BCL2L1 BCL2 BAX BAK1
40 11.37 BCL2 BAX
41 11.34 BCL2 BAX
42
Show member pathways
11.34 BCL2L1 BCL2
43 11.27 BCL2L1 BAX BAK1
44 11.19 BCL2L1 BCL2 BAX
45 11.16 BCL2L1 BCL2 BAX BAK1
46 11.13 BCL2 BAX
47
Show member pathways
11.11 BCL2L1 BCL2 BAX BAK1
48 11.09 BCL2L1 BCL2
49 11.03 BCL2L1 BCL2 BAX
50
Show member pathways
11 BCL2 BAX

GO Terms for Absolute Glaucoma

Cellular components related to Absolute Glaucoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.77 CTSA BCL2L1 BCL2 BAX BAK1
2 mitochondrion GO:0005739 9.71 BCL2L1 BCL2 BAX BAK1
3 mitochondrial outer membrane GO:0005741 9.56 BCL2L1 BCL2 BAX BAK1
4 mitochondrial membrane GO:0031966 9.46 BCL2L1 BCL2 BAX BAK1
5 BAK complex GO:0097145 9.32 BAX BAK1
6 pore complex GO:0046930 9.13 BCL2 BAX BAK1
7 Bcl-2 family protein complex GO:0097136 8.8 BCL2L1 BAX BAK1

Biological processes related to Absolute Glaucoma according to GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.96 BCL2L1 BCL2 BAX BAK1
2 negative regulation of cell proliferation GO:0008285 9.9 BCL2 BAX BAK1
3 regulation of apoptotic process GO:0042981 9.86 BCL2L1 BCL2 BAX BAK1
4 regulation of cell cycle GO:0051726 9.83 BCL2 BAX BAK1
5 negative regulation of neuron apoptotic process GO:0043524 9.83 BCL2L1 BCL2 BAX
6 male gonad development GO:0008584 9.79 BCL2L1 BCL2 BAX
7 cell proliferation GO:0008283 9.78 BCL2L1 BCL2 BAX BAK1
8 response to toxic substance GO:0009636 9.74 BCL2 BAX
9 positive regulation of catalytic activity GO:0043085 9.74 CTSA BCL2
10 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.73 BAX BAK1
11 regulation of protein stability GO:0031647 9.73 CTSA BCL2
12 regulation of growth GO:0040008 9.73 BCL2L1 BCL2
13 post-embryonic development GO:0009791 9.73 BCL2 BAX
14 apoptotic signaling pathway GO:0097190 9.73 BAX BAK1
15 response to cytokine GO:0034097 9.72 BCL2L1 BCL2
16 response to hydrogen peroxide GO:0042542 9.72 BCL2 BAK1
17 positive regulation of protein complex assembly GO:0031334 9.72 BAX BAK1
18 cellular response to UV GO:0034644 9.72 BAX BAK1
19 fertilization GO:0009566 9.72 BCL2L1 BAX
20 ovarian follicle development GO:0001541 9.72 BCL2L1 BCL2 BAX
21 glycosphingolipid metabolic process GO:0006687 9.71 CTSA BAX
22 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.71 BCL2L1 BCL2
23 response to radiation GO:0009314 9.71 BCL2L1 BCL2
24 cellular response to organic substance GO:0071310 9.71 BCL2 BAX
25 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.71 BCL2 BAX
26 neuron apoptotic process GO:0051402 9.71 BCL2L1 BCL2 BAX
27 negative regulation of apoptotic signaling pathway GO:2001234 9.7 BCL2 BAX
28 blood vessel remodeling GO:0001974 9.7 BAX BAK1
29 germ cell development GO:0007281 9.7 BCL2L1 BAX
30 homeostasis of number of cells within a tissue GO:0048873 9.7 BCL2 BAX
31 positive regulation of intrinsic apoptotic signaling pathway GO:2001244 9.7 BCL2L1 BCL2 BAX
32 negative regulation of intrinsic apoptotic signaling pathway GO:2001243 9.69 BCL2L1 BCL2
33 positive regulation of release of cytochrome c from mitochondria GO:0090200 9.69 BAX BAK1
34 negative regulation of peptidyl-serine phosphorylation GO:0033137 9.69 BAX BAK1
35 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress GO:0070059 9.69 BCL2 BAX BAK1
36 cellular response to unfolded protein GO:0034620 9.68 BAX BAK1
37 limb morphogenesis GO:0035108 9.68 BAX BAK1
38 mitochondrion morphogenesis GO:0070584 9.68 BCL2L1 BAX
39 homeostasis of number of cells GO:0048872 9.68 BAX BAK1
40 mitochondrial fusion GO:0008053 9.67 BAX BAK1
41 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.67 BAX BAK1
42 positive regulation of calcium ion transport into cytosol GO:0010524 9.67 BAX BAK1
43 response to gamma radiation GO:0010332 9.67 BCL2 BAX BAK1
44 positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway GO:1901030 9.65 BAX BAK1
45 vagina development GO:0060068 9.65 BAX BAK1
46 negative regulation of endoplasmic reticulum calcium ion concentration GO:0032471 9.64 BAX BAK1
47 myeloid cell homeostasis GO:0002262 9.64 BAX BAK1
48 positive regulation of IRE1-mediated unfolded protein response GO:1903896 9.63 BAX BAK1
49 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c GO:0008635 9.63 BAX BAK1
50 B cell homeostasis GO:0001782 9.63 BCL2 BAX BAK1

Molecular functions related to Absolute Glaucoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.62 BCL2L1 BCL2 BAX BAK1
2 protein homodimerization activity GO:0042803 9.46 BCL2L1 BCL2 BAX BAK1
3 chaperone binding GO:0051087 9.37 BAX BAK1
4 channel activity GO:0015267 9.26 BCL2 BAX
5 protein heterodimerization activity GO:0046982 9.26 BCL2L1 BCL2 BAX BAK1
6 BH3 domain binding GO:0051434 8.8 BCL2L1 BCL2 BAX

Sources for Absolute Glaucoma

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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