Cataract-glaucoma malady

MalaCards: Cataract-glaucoma, also known as bilateral cataracts (disorder), is related to congenital cataracts and diabetic cataract. An important gene associated with Cataract-glaucoma is TDRD7 (tudor domain containing 7), and among its related pathways are Wnt / Hedgehog / Notch and Transcriptional Regulatory Network in Embryonic Stem Cell. The compounds tolrestat and methylglyoxal have been mentioned in the context of this disorder. Related mouse phenotypes are taste/olfaction and pigmentation.

cataract-glaucoma 30 bilateral cataracts (disorder) 43

Diseases related to cataract-glaucoma by text searches and GeneDecks gene sharing:

(show top 50)    (show all 113)

id	Related Disease	Score	Top Affiliating Genes
1	congenital cataracts	29.0	OCRL, PAX6
2	diabetic cataract	28.7	GSR, AKR1B1
3	senile cataract	28.6	AKR1B1, GSR
4	cataract	23.5	OCRL, TDRD7, PITX2, OTX2, GJA1, AKR1B1
5	iris hypoplasia and glaucoma	13.1	PAX6, FOXC1
6	glaucoma, congenital	13.1	FOXC1, PAX6
7	optic nerve hypoplasia	13.0	SOX2, PAX6
8	iridogoniodysgenesis	13.0	PITX2, FOXC1
9	intestinal atresia	13.0	FOXC1, PAX6
10	isolated growth hormone deficiency	13.0	PAX6, OTX2
11	chorioretinitis	12.8	PAX6, FOXC1
12	anophthalmia/microphthalmia	12.6	SOX2, PITX2, OTX2
13	craniofacial anomalies	12.6	GJA1, FOXC1
14	iris hypoplasia	12.6	PITX2, FOXC1, PAX6
15	peters anomaly	12.6	PAX6, FOXC1, PITX2
16	stickler syndrome	12.5	PAX6, FOXC1, PITX2
17	hypotonia	12.5	OCRL, OTX2, PAX6
18	mental retardation syndrome	12.5	PAX6, FOXC1, OCRL
19	aniridia	12.3	PITX2, OTX2, FOXC1, PAX6
20	axenfeld-rieger syndrome	12.2	FOXC1, GJA1, PITX2
21	anophthalmia	12.2	PAX6, OTX2, PITX2, SOX2
22	congenital heart defect	12.2	PITX2, GJA1, FOXC1
23	coloboma	12.2	PAX6, OTX2, PITX2, SOX2
24	medulloblastoma	12.1	SOX2, OTX2, GSR, PAX6
25	microcephaly	12.1	GJA1, FOXC1, PAX6
26	intellectual disability	12.1	PAX6, GSR, OCRL
27	type 1 diabetes mellitus	12.1	SOX2, AKR1B1, GSR
28	keratitis	12.0	PAX6, GSR, GJA1
29	cerebellar hypoplasia	12.0	PITX2, AKR1B1, FOXC1, PAX6
30	developmental disabilities	11.8	PAX6, FOXC1, GJA1, PITX2
31	blindness	11.6	PAX6, FOXC1, GSR, AKR1B1, TDRD7
32	astrocytoma	11.5	SOX2, OTX2, GJA1, PAX6
33	microphthalmia	11.4	SOX2, PITX2, OTX2, GJA1, PAX6
34	hearing loss	11.3	SOX2, PITX2, GJA1, GSR, FOXC1
35	cadasil	11.2	GSR, AKR1B1, GJA1
36	malignant glioma	11.1	SOX2, PITX2, GJA1, GSR, PAX6
37	cerebritis	10.7	SOX2, OTX2, GJA1, AKR1B1, GSR, PAX6
38	thyroiditis	10.5	GSR, AKR1B1, GJA1, OTX2, PITX2, SOX2
39	retinitis	10.2	SOX2, PITX2, OTX2, GJA1, AKR1B1, GSR
40	breast cancer	9.9	SOX2, TDRD7, PITX2, GJA1, AKR1B1, GSR
41	prostatitis	9.7	SOX2, PITX2, GJA1, AKR1B1, GSR, FOXC1
42	carcinoma	9.7	SOX2, OCRL, OTX2, GJA1, AKR1B1, GSR
43	glaucoma	9.2	TDRD7, PITX2, OTX2, GJA1, AKR1B1, GSR
44	cataract, alopecia, sclerodactyly	6.5
45	cataract, cortical pulverulent, late-onset	6.5
46	cataract, posterior polar, 4, syndromic	6.5
47	cataract, nonnuclear polymorphic congenital	6.5
48	cataract, autosomal recessive congenital 2	6.5
49	cataracts, autosomal dominant	6.5
50	cataract, autosomal recessive, early-onset, pulverulent	6.5

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to cataract-glaucoma:

²⁵ (show all 19)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	taste/olfaction phenotype	MP:0005394	9.4	PAX6, OTX2, SOX2
2	pigmentation phenotype	MP:0001186	8.9	SOX2, PITX2, PAX6, FOXC1, OTX2
3	skeleton phenotype	MP:0005390	8.9	FOXC1, GJA1, OTX2, PITX2
4	hearing/vestibular/ear phenotype	MP:0005377	8.5	GJA1, OTX2, SOX2, PAX6
5	digestive/alimentary phenotype	MP:0005381	8.3	SOX2, OTX2, PITX2, FOXC1, PAX6
6	craniofacial phenotype	MP:0005382	8.0	PAX6, FOXC1, OTX2, PITX2, SOX2, GJA1
7	respiratory system phenotype	MP:0005388	8.0	PAX6, FOXC1, SOX2, PITX2, OTX2, GJA1
8	muscle phenotype	MP:0005369	8.0	FOXC1, PAX6, OTX2, GJA1, PITX2, SOX2
9	embryogenesis phenotype	MP:0005380	7.9	SOX2, OTX2, GJA1, FOXC1, PAX6, PITX2
10	endocrine/exocrine gland phenotype	MP:0005379	7.7	PITX2, OTX2, PAX6, FOXC1, GJA1, SOX2
11	nervous system phenotype	MP:0003631	7.5	TDRD7, PITX2, SOX2, GJA1, FOXC1, PAX6
12	cardiovascular system phenotype	MP:0005385	7.5	PITX2, GJA1, GSR, FOXC1, OTX2, PAX6
13	cellular phenotype	MP:0005384	7.4	SOX2, PAX6, FOXC1, GJA1, OTX2, PITX2
14	normal phenotype	MP:0002873	7.3	OCRL, PAX6, PITX2, OTX2, SOX2, GSR
15	reproductive system phenotype	MP:0005389	7.2	PITX2, SOX2, TDRD7, PAX6, FOXC1, GJA1
16	growth/size phenotype	MP:0005378	6.8	AKR1B1, OTX2, SOX2, GJA1, OCRL, PITX2
17	homeostasis/metabolism phenotype	MP:0005376	6.8	OTX2, PAX6, FOXC1, SOX2, OCRL, GJA1
18	mortality/aging	MP:0010768	6.8	OTX2, GJA1, PITX2, FOXC1, OCRL, AKR1B1
19	vision/eye phenotype	MP:0005391	6.1	OCRL, OTX2, AKR1B1, PITX2, TDRD7, GSR

Articles related to cataract-glaucoma:

id	Title	Authors	Year	Affiliating Genes
1	Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. (21436445)	Lachke S.A.... Maas R.L.	2011	TDRD7
2	Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma. (18637741)	Mihelec M.... Jamieson R.V.	2008	PAX6, PITX2, OTX2
3	Natural therapies for ocular disorders, part two: cataracts and glaucoma. (11302779)	Head K.A.	2001	AKR1B1, GSR

Genes related to cataract-glaucoma according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	TDRD7	tudor domain containing 7	11.1	Summaries, Publications
2	OTX2	orthodenticle homeobox 2	11.0	Publications
3	FOXC1	forkhead box C1	11.0	Publications
4	SOX2	SRY (sex determining region Y)-box 2	11.0	Publications
5	PITX2	paired-like homeodomain 2	11.0	Publications
6	PAX6	paired box 6	11.0	Publications
7	OCRL	oculocerebrorenal syndrome of Lowe	11.0
8	AKR1B1	aldo-keto reductase family 1, member B1 (aldose reductase)	11.0	Publications
9	GJA1	gap junction protein, alpha 1, 43kDa	11.0
10	GSR	glutathione reductase	11.0	Publications

Pathways related to cataract-glaucoma according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Wnt / Hedgehog / Notch3	9.4	SOX2, OTX2, FOXC1
2	Transcriptional Regulatory Network in Embryonic Stem Cell36	9.0	FOXC1, PAX6, SOX2
3	Selected targets of Oct-3/410	8.4	OTX2, PAX6, GJA1, SOX2

Compounds related to cataract-glaucoma according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	tolrestat32 9 9	11.6	AKR1B1, GSR
2	methylglyoxal32	9.5	AKR1B1, GSR
3	nadp+32	9.4	GSR, AKR1B1
4	phenylbutyrate32	9.3	GJA1, GSR
5	lycopene32 18	10.2	GJA1, GSR
6	glycyrrhetinic acid32 18	10.2	AKR1B1, GJA1
7	gsno32	9.0	GSR, AKR1B1
8	s-nitroso-n-acetylpenicillamine32	8.9	GJA1, AKR1B1
9	epinephrine32 9 18 9	11.9	GSR, AKR1B1, PITX2
10	arginine32	8.5	PITX2, GSR, PAX6, AKR1B1

Biological processes related to cataract-glaucoma according to GeneDecks:

(show all 13)

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of epithelial cell differentiation	GO:030858	9.9	SOX2, PAX6
2	iris morphogenesis	GO:061072	9.8	PITX2, PAX6
3	positive regulation of neuroblast proliferation	GO:002052	9.8	PAX6, SOX2
4	neuron fate commitment	GO:048663	9.8	SOX2, PAX6
5	inner ear morphogenesis	GO:042472	9.8	SOX2, OTX2
6	pituitary gland development	GO:021983	9.6	SOX2, PAX6
7	eye development	GO:001654	9.6	PAX6, FOXC1, SOX2
8	negative regulation of epithelial cell proliferation	GO:050680	9.5	PAX6, SOX2
9	negative regulation of neuron differentiation	GO:045665	9.3	SOX2, PAX6
10	positive regulation of transcription, DNA-dependent	GO:045893	9.1	SOX2, OTX2, FOXC1, PAX6
11	neuron migration	GO:001764	9.0	PITX2, GJA1, PAX6
12	in utero embryonic development	GO:001701	9.0	GJA1, PITX2, FOXC1
13	positive regulation of transcription from RNA polymerase II promoter	GO:045944	8.8	PITX2, SOX2, FOXC1, PAX6, OTX2

Molecular functions related to cataract-glaucoma according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	sequence-specific DNA binding RNA polymerase II transcription factor activity	GO:000981	9.5	PAX6, PITX2
2	transcription factor binding	GO:008134	9.3	PAX6, FOXC1, PITX2
3	sequence-specific DNA binding transcription factor activity	GO:003700	8.6	PITX2, SOX2, PAX6, FOXC1, OTX2
4	protein binding	GO:005515	6.6	SOX2, OCRL, TDRD7, PITX2, OTX2, GJA1