Iris Hypoplasia malady

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

iris hypoplasia 16 hypoplasia 43

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

(show top 50)    (show all 348)

id	Related Disease	Score	Top Affiliating Genes
1	cerebellar hypoplasia	31.0	PAX6, FOXC1, PITX2
2	iris hypoplasia and glaucoma	30.9	PAX6, FOXC1, IHG1
3	anophthalmia	26.5	PITX2, PAX6
4	glaucoma	26.5	PAX6, FOXC1, IHG1, PITX2
5	congenital heart defect	25.8	FOXC1, PITX2
6	coloboma	25.5	PAX6, PITX2
7	aniridia	25.3	PAX6, FOXC1, PITX2
8	cataract	25.0	PAX6, FOXC1, PITX2
9	intestinal atresia	25.0	PAX6, FOXC1
10	glaucoma, congenital	12.6	PAX6, FOXC1
11	chorioretinitis	12.5	PAX6, FOXC1
12	iridogoniodysgenesis	12.4	FOXC1, PITX2
13	axenfeld-rieger syndrome	12.3	PITX2, FOXC1
14	ductal carcinoma in situ	12.0	PAX6, FOXC1
15	microphthalmia	12.0	PAX6, PITX2
16	cataract-glaucoma	11.8	PAX6, FOXC1, PITX2
17	peters anomaly	11.8	PITX2, FOXC1, PAX6
18	developmental disabilities	11.8	PITX2, FOXC1, PAX6
19	stickler syndrome	11.7	PAX6, FOXC1, PITX2
20	adrenal hypoplasia	10.1
21	x-linked adrenal hypoplasia congenita	9.3
22	cartilage-hair hypoplasia	8.9
23	focal dermal hypoplasia	8.3
24	leydig cells hypoplasia	8.2
25	hypogonadism	8.1
26	dysequilibrium syndrome	8.0
27	pontocerebellar hypoplasia	7.8
28	pituitary hypoplasia	7.7
29	hypogonadotropism	7.6
30	dental enamel hypoplasia	7.3
31	renal hypoplasia	7.1
32	thyroiditis	7.1
33	glycerol kinase deficiency	7.0
34	fibular hypoplasia and complex brachydactyly	6.9
35	foveal hypoplasia	6.9
36	pontocerebellar hypoplasia type 1	6.7
37	right ventricle hypoplasia	6.7
38	pontocerebellar hypoplasia type 6	6.5
39	pituitary hormone deficiency	6.5
40	sex reversal	6.5
41	corpus callosum	6.5
42	dosage-sensitive sex reversal	6.5
43	muscular dystrophy	6.5
44	iridogoniodysgenesis, dominant type	6.3
45	anemia	6.2
46	anonychia-onychodystrophy with hypoplasia or absence of distal phalanges	6.2
47	congenital diaphragmatic hernia	6.2
48	deafness enamel hypoplasia nail defects	6.2
49	foveal hypoplasia and anterior segment dysgenesis	6.2
50	mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance	6.2

Approved drugs:

Drug clinical trials:

Genetic tests related to iris hypoplasia:

id	Genetic test	Affiliating Genes
1	Iris Hypoplasia clinical/research	PITX2

MGI Mouse Phenotypes related to iris hypoplasia:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	pigmentation phenotype	MP:0001186	8.5	PAX6, FOXC1, PITX2
2	craniofacial phenotype	MP:0005382	8.5	PAX6, FOXC1, PITX2
3	respiratory system phenotype	MP:0005388	8.1	PAX6, FOXC1, PITX2, STIM1
4	vision/eye phenotype	MP:0005391	8.1	PAX6, FOXC1, PITX2, STIM1
5	skeleton phenotype	MP:0005390	7.9	FOXC1, STIM1, PITX2, PAX6
6	cardiovascular system phenotype	MP:0005385	7.7	FOXC1, PITX2, STIM1, PAX6

Articles related to iris hypoplasia:

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
2	Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. (9437321)	Alward W.L.M.... Murray J.C.	1998	PITX2
3	Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). (7581385)	Heon E.... Stone E.M.	1995	PITX2

Genes related to iris hypoplasia 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
4	PITX2	paired-like homeodomain 2	11.0	Publications
5	STIM1	stromal interaction molecule 1	11.0

Pathways related to iris hypoplasia according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Transcriptional Regulatory Network in Embryonic Stem Cell36	9.3	PAX6, FOXC1

Biological processes related to iris hypoplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	eye development	GO:001654	9.4	PAX6, FOXC1
2	iris morphogenesis	GO:061072	9.1	PITX2, PAX6
3	in utero embryonic development	GO:001701	9.1	FOXC1, PITX2
4	regulation of cell migration	GO:030334	9.0	PAX6, PITX2
5	neuron migration	GO:001764	8.9	PAX6, PITX2
6	positive regulation of transcription from RNA polymerase II promoter	GO:045944	8.2	PITX2, FOXC1, PAX6

Molecular functions related to iris hypoplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	sequence-specific DNA binding RNA polymerase II transcription factor activity	GO:000981	8.7	PAX6, PITX2
2	sequence-specific DNA binding transcription factor activity	GO:003700	8.5	PAX6, FOXC1, PITX2
3	transcription factor binding	GO:008134	8.4	PAX6, FOXC1, PITX2