Iridogoniodysgenesis malady

MalaCards: Iridogoniodysgenesis, also known as iridogoniodysgenesis syndrome, is related to axenfeld-rieger syndrome and glaucoma. An important gene associated with Iridogoniodysgenesis is PITX2 (paired-like homeodomain 2). The compound ptx1 have been mentioned in the context of this disorder. Related mouse phenotypes are craniofacial and pigmentation.

iridogoniodysgenesis 7 iridogoniodysgenesis syndrome 7 32

iridogoniodysgenesis, type 2 43

Disease types for iridogoniodysgenesis family:

iridogoniodysgenesis, type 1

Diseases related to iridogoniodysgenesis by text searches and GeneDecks gene sharing:

(show all 24)

id	Related Disease	Score	Top Affiliating Genes
1	axenfeld-rieger syndrome	28.9	FOXC1, PITX2
2	glaucoma	25.5	PITX3, PITX2, FOXE3, FOXC1
3	peters anomaly	12.8	FOXC1, PITX2
4	iris hypoplasia	12.8	FOXC1, PITX2
5	cataract-glaucoma	12.8	FOXC1, PITX2
6	congenital heart defect	12.6	FOXC1, PITX2
7	developmental disabilities	12.6	FOXC1, PITX2
8	axenfeld-rieger syndrome type 1	12.5	PITX2, PITX3
9	stickler syndrome	12.5	FOXC1, PITX2
10	anophthalmia/microphthalmia	12.4	PITX2, PITX3
11	cerebellar hypoplasia	12.4	PITX2, FOXC1
12	anophthalmia	12.4	PITX2, PITX3
13	anterior segment mesenchymal dysgenesis	12.3	FOXE3, PITX3
14	hearing loss	12.1	PITX2, FOXC1, BARX1
15	coloboma	12.1	FOXE3, PITX2
16	congenital cataracts	12.0	FOXE3, PITX3
17	microphthalmia	11.8	FOXE3, PITX2, PITX3
18	aniridia	11.4	PITX3, PITX2, FOXE3, FOXC1
19	cataract	11.4	PITX3, PITX2, FOXE3, FOXC1
20	iridogoniodysgenesis, dominant type	7.7
21	iridogoniodysgenesis type1	7.4
22	iridogoniodysgenesis, type 1	7.4
23	iridogoniodysgenesis and skeletal anomalies	6.5
24	primary congenital glaucoma	5.6

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to iridogoniodysgenesis:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial phenotype	MP:0005382	9.0	PITX2, FOXC1, BARX1
2	pigmentation phenotype	MP:0001186	8.4	PITX2, FOXC1, PITX3
3	vision/eye phenotype	MP:0005391	8.0	PITX2, FOXC1, FOXE3, PITX3

Articles related to iridogoniodysgenesis:

id	Title	Authors	Year	Affiliating Genes
1	Histopathology and molecular basis of iridogoniodysgenesis syndrome. (10420192)	Pearce W.G.... Walter M.A.	1999	PITX2
2	Threading analysis of the Pitx2 homeodomain: predicted structural effects of mutations causing Rieger syndrome and iridogoniodysgenesis. (10502778)	Banerjee-Basu S.... Baxevanis A.D.	1999	PITX2
3	Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. (9618168)	Kulak S.C.... Walter M.A.	1998	PITX2
4	Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly. (9382099)	Jordan T.... Bhattacharya S.	1997	FOXC1
5	Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25. (8940278)	Mears A.J.... Walter M.A.	1996	FOXC1
6	Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct. (8942889)	Walter M.A.... Pearce W.G.	1996	PITX2

Genes related to iridogoniodysgenesis according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	PITX2	paired-like homeodomain 2	11.1	Publications, Summaries
2	FOXC1	forkhead box C1	11.1	Publications, Summaries
3	FOXE3	forkhead box E3	11.0
4	PITX3	paired-like homeodomain 3	11.0
5	BARX1	BARX homeobox 1	10.2	UniProt Related

Compounds related to iridogoniodysgenesis according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	ptx132	9.2	PITX2, PITX3

Cellular components related to iridogoniodysgenesis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	transcription factor complex	GO:005667	9.4	FOXE3, PITX2

Biological processes related to iridogoniodysgenesis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	in utero embryonic development	GO:001701	9.5	FOXC1, PITX2
2	spleen development	GO:048536	9.2	BARX1, PITX2
3	regulation of transcription, DNA-dependent	GO:006355	7.4	BARX1, FOXC1, FOXE3, PITX2, PITX3

Molecular functions related to iridogoniodysgenesis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	transcription regulatory region sequence-specific DNA binding	GO:000976	9.2	BARX1, PITX2
2	sequence-specific DNA binding	GO:043565	8.5	FOXC1, FOXE3, PITX3
3	sequence-specific DNA binding transcription factor activity	GO:003700	7.4	PITX2, PITX3, BARX1, FOXC1, FOXE3