Iris Hypoplasia and Glaucoma malady

MalaCards: Iris Hypoplasia and Glaucoma, also known as hypoplasia, is related to cerebellar hypoplasia and iris hypoplasia. An important gene associated with Iris Hypoplasia and Glaucoma is IHG1 (iris hypoplasia with glaucoma 1), and among its related pathways is Transcriptional Regulatory Network in Embryonic Stem Cell. Related mouse phenotype pigmentation.

OMIM: 601631

iris hypoplasia and glaucoma 7 30 33 hypoplasia 43

ihg 30

Diseases related to iris hypoplasia and glaucoma by text searches and GeneDecks gene sharing:

(show top 50)    (show all 349)

id	Related Disease	Score	Top Affiliating Genes
1	cerebellar hypoplasia	31.7	PAX6, FOXC1
2	iris hypoplasia	29.2	PAX6, FOXC1, IHG1
3	glaucoma	29.1	IHG1, FOXC1, PAX6
4	microcephaly	27.1	FOXC1, PAX6
5	aniridia	26.1	FOXC1, PAX6
6	cataract	25.8	PAX6, FOXC1
7	intestinal atresia	24.8	PAX6, FOXC1
8	glaucoma, congenital	12.4	PAX6, FOXC1
9	axenfeld-rieger syndrome	12.4	FOXC1, PAX6
10	cataract-glaucoma	12.4	PAX6, FOXC1
11	peters anomaly	12.4	FOXC1, PAX6
12	chorioretinitis	12.4	FOXC1, PAX6
13	developmental disabilities	12.3	PAX6, FOXC1
14	ductal carcinoma in situ	12.2	PAX6, FOXC1
15	stickler syndrome	12.2	PAX6, FOXC1
16	mental retardation syndrome	12.0	PAX6, FOXC1
17	pancreatic ductal carcinoma	11.8	PAX6, FOXC1
18	adrenal hypoplasia	10.1
19	x-linked adrenal hypoplasia congenita	9.3
20	cartilage-hair hypoplasia	8.9
21	focal dermal hypoplasia	8.3
22	leydig cells hypoplasia	8.2
23	hypogonadism	8.1
24	dysequilibrium syndrome	8.0
25	pontocerebellar hypoplasia	7.8
26	pituitary hypoplasia	7.7
27	hypogonadotropism	7.6
28	dental enamel hypoplasia	7.3
29	renal hypoplasia	7.1
30	thyroiditis	7.1
31	glycerol kinase deficiency	7.0
32	fibular hypoplasia and complex brachydactyly	6.9
33	foveal hypoplasia	6.9
34	pontocerebellar hypoplasia type 1	6.7
35	right ventricle hypoplasia	6.7
36	pontocerebellar hypoplasia type 6	6.5
37	pituitary hormone deficiency	6.5
38	sex reversal	6.5
39	corpus callosum	6.5
40	dosage-sensitive sex reversal	6.5
41	muscular dystrophy	6.5
42	anemia	6.2
43	anonychia-onychodystrophy with hypoplasia or absence of distal phalanges	6.2
44	congenital diaphragmatic hernia	6.2
45	deafness enamel hypoplasia nail defects	6.2
46	foveal hypoplasia and anterior segment dysgenesis	6.2
47	mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance	6.2
48	mental retardation and microcephaly with pontine and cerebellar hypoplasia	6.2
49	optic nerve hypoplasia	6.2
50	pontocerebellar hypoplasia type 4	6.2

Clinical features from OMIM: 601631

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to iris hypoplasia and glaucoma:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	pigmentation phenotype	MP:0001186	9.1	PAX6, FOXC1

Articles related to iris hypoplasia and glaucoma:

id	Title	Authors	Year	Affiliating Genes
1	Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. (11007653)	Lehmann O.J.... Bhattacharya S.S.	2000	FOXC1

Genes related to iris hypoplasia and glaucoma according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	IHG1	iris hypoplasia with glaucoma 1	11.1	Aliases & Descriptions
2	FOXC1	forkhead box C1	11.0	Publications
3	PAX6	paired box 6	11.0

Pathways related to iris hypoplasia and glaucoma according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Transcriptional Regulatory Network in Embryonic Stem Cell36	9.1	PAX6, FOXC1

Biological processes related to iris hypoplasia and glaucoma according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	eye development	GO:001654	9.1	PAX6, FOXC1

Molecular functions related to iris hypoplasia and glaucoma according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	transcription factor binding	GO:008134	9.1	PAX6, FOXC1