Peters Anomaly malady

NIH Rare Diseases: Peters anomaly is a disorder of the eye which involves thinning and clouding of the cornea and attachment of the iris to the cornea, which causes blurred vision. It may also be associated with clouding of the lens of the eye (cataracts) or other lens abnormalities. Peters anomaly may occur as an isolated ocular abnormality or in association with other ocular defects. Peters anomaly is a feature of the Krause-Kivlin syndrome and the Peters-plus syndrome.³⁰

MalaCards: Peters Anomaly, also known as anomaly peters, is related to peters plus syndrome and axenfeld-rieger syndrome. An important gene associated with Peters Anomaly is PITX2 (paired-like homeodomain 2), and among its related pathways are TGF-beta signaling pathway and TGF-beta/Smad Signaling. The compounds ptx1 and n acetylcysteine have been mentioned in the context of this disorder. Related mouse phenotypes are no phenotypic analysis and growth/size.

Wikipedia: Anterior segment dysgenesis (ASD) is a failure of the normal development of the tissues of the anterior...⁴⁴ more...

OMIM: 604229

peters anomaly 7 30 16 33 anomaly peters 32

Diseases related to peters anomaly by text searches and GeneDecks gene sharing:

(show top 50)    (show all 51)

id	Related Disease	Score	Top Affiliating Genes
1	peters plus syndrome	31.1	PITX3, B3GALTL
2	axenfeld-rieger syndrome	30.4	FOXC1, FOXP2, CYP1B1, PITX2
3	aniridia	28.9	PITX3, PITX2, CYP1B1, FOXE3, FOXC1, PAX6
4	iris hypoplasia and glaucoma	13.4	FOXC1, PAX6
5	axenfeld-rieger syndrome type 1	13.4	PITX3, PITX2
6	cataracts, autosomal dominant	13.4	CRYBB1, GJA8
7	iris hypoplasia	13.3	PAX6, FOXC1, PITX2
8	cataract-glaucoma	13.3	PITX2, FOXC1, PAX6
9	anterior segment mesenchymal dysgenesis	13.3	PITX3, FOXE3, PAX6
10	cataract, pulverulent	13.3	CRYBB1, MAF
11	glaucoma, early-onset, digenic	13.2	CYP1B1, MYOC
12	primary open angle glaucoma (adult onset)	13.2	CYP1B1, MYOC
13	cerebellar hypoplasia	13.2	PITX2, FOXC1, PAX6
14	microcoria	13.2	MYOC, CYP1B1
15	cataract microcornea syndrome	13.1	CRYBB1, GJA8, MAF
16	buphthalmos	13.1	CYP1B1, MYOC
17	iridogoniodysgenesis	13.1	PITX3, PITX2, FOXE3, FOXC1
18	early-onset glaucoma	13.1	PITX2, CYP1B1, MYOC
19	juvenile glaucoma	13.0	CYP1B1, FOXC1, MYOC
20	primary congenital glaucoma	13.0	CYP1B1, FOXC1, MYOC
21	open-angle glaucoma	13.0	MYOC, CYP1B1, TGFB2
22	interval angle-closure glaucoma	13.0	TGFB2, CYP1B1, MYOC
23	anophthalmia/microphthalmia	12.9	PITX3, PITX2
24	glaucoma, congenital	12.9	CYP1B1, FOXC1, PAX6, MYOC
25	osteochondroma	12.8	EXT1, TGFB2
26	primary angle-closure glaucoma	12.8	MYOC, CYP1B1
27	rubinstein-taybi syndrome	12.8	HDAC9, PAX6
28	developmental disabilities	12.8	PITX2, FOXP2, FOXC1, PAX6
29	stickler syndrome	12.7	TGFB2, PITX2, FOXC1, PAX6, MYOC
30	lymphedema	12.7	FOXC1, FOXP2, SHOX
31	lacrimal duct obstruction	12.7	TGFB2, TTF2, MYOC
32	anophthalmia	12.5	SOX3, PITX3, PITX2, EYA1, PAX6
33	osteopoikilosis	12.5	SMAD2, EXT1
34	short stature	12.4	SOX3, SHOX, EXT1, B3GALTL
35	microphthalmia	12.4	PITX3, PITX2, GJA8, EYA1, FOXE3, PAX6
36	hearing loss	12.3	SHOX, PITX2, CYP1B1, EYA1, FOXC1
37	myopia 6	12.2	TGFB2, CRYBB1, GJA8, EYA1, PAX6, MYOC
38	coloboma	12.1	PITX2, CRYBB1, GJA8, EXT1, MAF, FOXE3
39	congenital cataracts	12.0	PITX3, CRYBB1, GJA8, EYA1, MAF, FOXE3
40	congenital heart defect	12.0	TTF2, SMAD2, EXT1, FOXC1
41	blindness	11.6	HDAC9, TTF2, PITX3, CYP1B1, FOXC1, PAX6
42	hypertrophy of breast	11.3	SMAD2, PITX2, SHOX, HDAC9
43	malignant glioma	11.2	HDAC9, TGFB2, TTF2, PITX2, SMAD2, CYP1B1
44	cataract	11.1	TGFB2, PITX3, PITX2, CRYBB1, GJA8, EYA1
45	myeloid leukemia	10.3	HDAC9, TGFB2, TTF2, SMAD2, CYP1B1, EXT1
46	glaucoma	10.3	PITX2, PITX3, TTF2, TGFB2, SMAD2, CYP1B1
47	pancreatitis	10.0	HDAC9, TGFB2, TTF2, PITX2, SMAD2, CYP1B1
48	prostate carcinoma	9.8	HDAC9, TGFB2, TTF2, PITX2, SMAD2, CYP1B1
49	leukemia	9.5	PITX2, TTF2, TGFB2, HDAC9, SMAD2, CYP1B1
50	prostatitis	9.3	HDAC9, TGFB2, TTF2, PITX2, SMAD2, CYP1B1

Clinical features from OMIM: 604229

Approved drugs:

Drug clinical trials:

Genetic tests related to peters anomaly:

id	Genetic test	Affiliating Genes
1	Peters Anomaly clinical/research	PAX6, FOXC1, AN, IHG1, CYP1B1, PITX2

MGI Mouse Phenotypes related to peters anomaly:

²⁵ (show all 17)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	no phenotypic analysis	MP:0003012	7.6	EXT1, FOXP2, SMAD2, PITX3, MYOC, SOX3
2	growth/size phenotype	MP:0005378	6.6	HDAC9, PAX6, FOXC1, SOX3, TGFB2, PITX3
3	homeostasis/metabolism phenotype	MP:0005376	INF	CYP1B1, TGFB2, , SOX3, PITX3, PAX6
4	respiratory system phenotype	MP:0005388	INF	FOXC1, FOXP2, , SMAD2, PITX2, PITX3
5	nervous system phenotype	MP:0003631	INF	SMAD2, SOX3, TGFB2, PITX3, PITX2, EXT1
6	digestive/alimentary phenotype	MP:0005381	INF	TGFB2, PITX2, SMAD2, EXT1, , FOXP2
7	embryogenesis phenotype	MP:0005380	INF	SMAD2, PAX6, , TGFB2, FOXP2, PITX2
8	skeleton phenotype	MP:0005390	INF	TGFB2, PITX3, PITX2, EXT1, , FOXC1
9	vision/eye phenotype	MP:0005391	INF	MYOC, , PAX6, FOXC1, FOXE3, FOXP2
10	behavior/neurological phenotype	MP:0005386	INF	SMAD2, EXT1, MAF, , SOX3, FOXP2
11	craniofacial phenotype	MP:0005382	INF	EXT1, SOX3, TGFB2, PITX2, PAX6, FOXP2
12	mortality/aging	MP:0010768	INF	PITX2, FOXC1, PAX6, FOXP2, TGFB2, MAF
13	muscle phenotype	MP:0005369	INF	HDAC9, TGFB2, PITX2, , FOXP2, PAX6
14	cardiovascular system phenotype	MP:0005385	INF	PAX6, FOXC1, HDAC9, TGFB2, PITX2, SMAD2
15	reproductive system phenotype	MP:0005389	INF	SMAD2, PITX2, , FOXC1, PAX6, PITX3
16	endocrine/exocrine gland phenotype	MP:0005379	INF	PAX6, , SOX3, SMAD2, PITX2, PITX3
17	hearing/vestibular/ear phenotype	MP:0005377	INF	PAX6, FOXP2, , EXT1, TGFB2

Articles related to peters anomaly:

(show all 17)

id	Title	Authors	Year	Affiliating Genes
1	A case of aniridia with unilateral Peters anomaly. (21397818)	Sawada M.... Hotta Y.	2011	PAX6
2	A novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomaly. (20405024)	Jia X.... Zhang Q.	2010	PAX6
3	A novel nonsense B3GALTL mutation confirms Peters plu s syndrome in a patient with multiple malformations and Peters anomaly. (21067481)	Aliferis K.... Dollfus H.	2010	B3GALTL
4	Heparan sulfate deficiency leads to Peters anomaly in mice by disturbing neural crest TGF-beta2 signaling. (19509472)	Iwao K.... Tanihara H.	2009	SMAD2, PITX2, EXT1
5	A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum. (18616618)	Berker N.... Alikasifoglu M.	2009	CYP1B1, PAX6, PITX2
6	A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly. (18498376)	Weisschuh N.... Gramer E.	2008	PITX2, FOXC1
7	Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes. (17994562)	Bleyl S.B.... Carey J.C.	2007	SOX3, SHOX
8	Further support of the role of CYP1B1 in patients with Peters anomaly. (16735991)	Vincent A.... Heon E.	2006	CYP1B1, PAX6, PITX2
9	A compound heterozygous change found in Peters' anomaly. (15682044)	Churchill A.J.... Yeung A.	2005	CYP1B1
10	A novel mutation in the alternative splice region of the PAX6 gene in a patient with Peters' anomaly. (15090434)	Nanjo Y.... Kinoshita S.	2004	PAX6
11	Molecular basis of Peters anomaly in Saudi Arabia. (15621878)	Edward D.... Bejjani B.	2004	CYP1B1, FOXC1
12	Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFbeta2 in the pathogenesis of Peters' anomaly. (12706107)	David D.... Boavida M.G.	2003	HDAC9, TGFB2, LYPLAL1
13	A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. (12614756)	Honkanen R.A.... Alward W.L.M.	2003	FOXC1
14	Foxe3 haploinsufficiency in mice: a model for Peters' anomaly. (11980846)	Ormestad M.... Carlsson P.	2002	FOXP2, FOXE3
15	Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. (11403040)	Vincent A.... Heon E.	2001	CYP1B1
16	A mutation in the RIEG1 gene associated with Peters' anomaly. (10051017)	Doward W.... Black G.C.	1999	PITX2
17	Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. (8162071)	Hanson I.M.... van Heyningen V.	1994	PAX6

Genes related to peters anomaly according to GeneCards:

(show all 20)

id	Symbol	Description	Score	GeneCards Section Context
1	PITX2	paired-like homeodomain 2	11.1	Summaries, Publications
2	PAX6	paired box 6	11.1	Summaries, Publications
3	TGFB2	transforming growth factor, beta 2	11.1	Publications, Summaries
4	FOXE3	forkhead box E3	11.0	Publications
5	FOXC1	forkhead box C1	11.0	Publications
6	PITX3	paired-like homeodomain 3	11.0
7	SHOX	short stature homeobox	11.0	Publications
8	SOX3	SRY (sex determining region Y)-box 3	11.0	Publications
9	CRYBB1	crystallin, beta B1	11.0
10	GJA8	gap junction protein, alpha 8, 50kDa	11.0
11	CYP1B1	cytochrome P450, family 1, subfamily B, polypeptide 1	11.0	Publications
12	LYPLAL1	lysophospholipase-like 1	11.0	Publications
13	MAF	v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian)	11.0	Publications
14	TTF2	transcription termination factor, RNA polymerase II	11.0	Publications
15	B3GALTL	beta 1,3-galactosyltransferase-like	11.0	Publications
16	MYOC	myocilin, trabecular meshwork inducible glucocorticoid response	11.0	Publications
17	SMAD2	SMAD family member 2	11.0	Publications
18	HDAC9	histone deacetylase 9	11.0	Publications
19	FOXP2	forkhead box P2	11.0	Publications
20	EXT1	exostosin 1	11.0	Publications

Pathways related to peters anomaly according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	TGF-beta signaling pathway20	9.6	SMAD2, PITX2, TGFB2
2	TGF-beta/Smad Signaling3	9.2	FOXC1, SMAD2, TGFB2

Compounds related to peters anomaly according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	ptx132	10.0	PITX2, PITX3
2	n acetylcysteine32	8.5	SMAD2, HDAC9, TGFB2, CYP1B1
3	steroid32	8.5	MYOC, CYP1B1, SHOX, TTF2, TGFB2, HDAC9
4	arginine32	8.3	MYOC, PAX6, MAF, SMAD2, PITX2, EXT1
5	glucose32	8.2	PITX2, TTF2, MAF, PAX6, TGFB2, HDAC9
6	dexamethasone32 42 34 9 9	12.1	TGFB2, HDAC9, TTF2, SMAD2, CYP1B1, MYOC
7	estrogen32	7.9	CYP1B1, TTF2, FOXP2, HDAC9, SHOX, TGFB2
8	vegf32	7.9	TTF2, FOXP2, PAX6, TGFB2, HDAC9, SMAD2
9	serine32	7.8	PAX6, GJA8, SMAD2, PITX2, TTF2, TGFB2
10	alanine32	7.5	PAX6, SOX3, TTF2, SMAD2, HDAC9, FOXP2

Cellular components related to peters anomaly according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	transcription factor complex	GO:005667	8.6	HDAC9, PITX2, SMAD2, FOXE3
2	nucleus	GO:005634	INF	HDAC9, SOX3, TTF2, SHOX, PITX3, PITX2

Biological processes related to peters anomaly according to GeneDecks:

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	iris morphogenesis	GO:061072	10.2	PAX6, PITX2
2	eye development	GO:001654	10.0	PAX6, FOXC1, TGFB2
3	salivary gland morphogenesis	GO:007435	10.0	TGFB2, PAX6
4	lens development in camera-type eye	GO:002088	9.9	PAX6, GJA8, PITX3
5	organ morphogenesis	GO:009887	9.5	SOX3, PITX3, PAX6
6	gastrulation	GO:007369	9.4	SMAD2, EXT1
7	visual perception	GO:007601	9.4	CRYBB1, PAX6, GJA8, CYP1B1
8	positive regulation of transcription from RNA polymerase II promoter	GO:045944	INF	FOXC1, MAF, , SMAD2, PITX2, PAX6

Molecular functions related to peters anomaly according to GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	transforming growth factor beta receptor binding	GO:005160	9.8	TGFB2, SMAD2
2	co-SMAD binding	GO:070410	9.8	PAX6, SMAD2
3	transferase activity, transferring glycosyl groups	GO:016757	9.5	EXT1, B3GALTL
4	transcription factor binding	GO:008134	8.8	HDAC9, PITX2, SMAD2, FOXC1, PAX6
5	sequence-specific DNA binding	GO:043565	8.5	FOXE3, PITX3, MAF, FOXP2, FOXC1
6	protein homodimerization activity	GO:042803	8.1	FOXP2, TGFB2, EXT1, MAF, PITX2
7	sequence-specific DNA binding transcription factor activity	GO:003700	7.7	PAX6, SHOX, PITX3, PITX2, SMAD2, MAF