Axenfeld-rieger Syndrome malady

NIH Rare Diseases: Axenfeld-Rieger syndrome refers to a spectrum of developmental eye disorders. Common eye symptoms include cornea defects, iris defects, and glaucoma. About 50% of affected individuals become blind from glaucoma. Other associated developmental defects commonly involve the teeth and facial bones. . Click here to view a diagram of the eye. There are three types of Axenfeld-Rieger syndrome, which are distinguished by their genetic cause. Axenfeld-Rieger syndrome type 1 is caused by mutations in the PITX2 gene and Axenfeld-Rieger syndrome type 3 is caused by mutations in the FOXC1 gene. The gene that causes Axenfeld-Rieger syndrome type 2 has not yet been identified, but it is located on chromosome 13. Axenfeld-Rieger syndrome has an autosomal dominant pattern of inheritance.³⁰

MalaCards: Axenfeld-rieger Syndrome, also known as rieger syndrome, is related to peters anomaly and iridogoniodysgenesis. An important gene associated with Axenfeld-rieger Syndrome is PITX2 (paired-like homeodomain 2). The compound ptx1 have been mentioned in the context of this disorder. Related mouse phenotypes are hearing/vestibular/ear and respiratory system.

Genetics Home Reference: Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris normally has a single central hole, called the pupil, through which light enters the eye. People with Axenfeld-Rieger syndrome often have a pupil that is off-center (corectopia) or extra holes in the iris that can look like multiple pupils (polycoria). This condition can also cause abnormalities of the cornea, which is the clear front covering of the eye.¹⁷

Wikipedia: Axenfeld syndrome (also known as Axenfeld-Rieger syndrome or Hagedoom syndrome) is the name given to a...⁴⁴ more...

OMIM: 602482

Aliases & Descriptions:

axenfeld-rieger syndrome 6 30 16 17 8 rieger syndrome 7 30 16 17 32 43 axenfeld syndrome 6 17 43 axenfeld anomaly 7 17 rieger anomaly 7 17 iridogoniodysgenesis with somatic anomalies 30 rieger or axenfeld anomalies 33 axenfeld and rieger anomaly 17

goniodysgenesis hypodontia 30 rgs - rieger syndrome 6 anomaly, rieger's 6 rieger's anomaly 6 axra 17 axrs 17 ars 17

Disease types for axenfeld-rieger syndrome family:

axenfeld-rieger syndrome type 1	axenfeld-rieger syndrome type 2
axenfeld-rieger syndrome type 3

Diseases related to axenfeld-rieger syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 3214)

id	Related Disease	Score	Top Affiliating Genes
1	peters anomaly	32.0	FOXC1, CYP1B1, PITX2
2	iridogoniodysgenesis	31.1	PITX2, FOXC1
3	breast cancer	30.6	POU1F1, PITX2, CYP1B1, DLX2, GJA1, FOXP2
4	primary congenital glaucoma	30.2	CYP1B1, FOXC1
5	iris hypoplasia	30.1	FOXC1, PITX2
6	craniofacial anomalies	28.4	FOXC1, GJA1
7	hearing loss	28.3	PITX2, CYP1B1, GJA1, FOXC1
8	glaucoma	28.0	SH3PXD2B, PITX2, CYP1B1, GJA1, FOXP2, FOXC1
9	endometrial cancer	27.8	CYP1B1, GJA1, FOXC1, PAWR
10	congenital heart defect	27.6	FOXC1, GJA1, PITX2
11	stickler syndrome	26.4	FOXC1, PITX2
12	lung carcinoma	26.3	SH3PXD2B, PITX2, CYP1B1, GJA1, FOXP2, FOXC1
13	neurodegenerative disease	26.2	CYP1B1, GJA1, FOXP2, PAWR
14	anophthalmia	24.2	PITX2, POU1F1
15	early-onset glaucoma	23.5	PITX2, CYP1B1
16	developmental disabilities	23.3	FOXC1, FOXP2, GJA1, PITX2
17	cerebellar hypoplasia	22.9	POU1F1, PITX2, FOXC1
18	tooth agenesis	22.7	DLX2, PITX2
19	juvenile glaucoma	13.1	CYP1B1, FOXC1
20	glaucoma, congenital	13.1	FOXC1, CYP1B1
21	hypoplastic left heart syndrome	12.9	GJA1, SMYD1
22	aniridia	12.9	PITX2, CYP1B1, FOXC1
23	cataract-glaucoma	12.9	PITX2, GJA1, FOXC1
24	carcinoma	11.1
25	axenfeld-rieger syndrome type 1	10.4
26	axenfeld-rieger syndrome type 3	10.4
27	axenfeld-rieger syndrome type 2	10.2
28	leukemia	10.1
29	prostatitis	10.1
30	neuronitis	10.0
31	obesity	9.8
32	hepatitis	9.6
33	prostate cancer	9.6
34	pancreatitis	9.5
35	arthritis	9.5
36	alzheimer's disease	9.3
37	immunodeficiency	9.2
38	rheumatoid arthritis	9.2
39	thyroiditis	9.2
40	insulin resistance	9.1
41	lung cancer	9.1
42	melanoma	9.1
43	diabetes mellitus	9.0
44	cholesterol	8.9
45	hypertension	8.8
46	colorectal cancer	8.8
47	asthma	8.7
48	squamous cell carcinoma	8.6
49	myeloid leukemia	8.6
50	atherosclerosis	8.6

Clinical features from OMIM: 602482

Approved drugs:

Drug clinical trials:

Genetic tests related to axenfeld-rieger syndrome:

id	Genetic test	Affiliating Genes
1	Axenfeld-rieger Syndrome clinical/research	FOXC1, IHG1, PITX2

MGI Mouse Phenotypes related to axenfeld-rieger syndrome:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear phenotype	MP:0005377	8.3	SH3PXD2B, DLX2, GJA1, FOXP2
2	respiratory system phenotype	MP:0005388	8.3	PITX2, DLX2, GJA1, FOXP2, FOXC1
3	muscle phenotype	MP:0005369	7.7	SH3PXD2B, PITX2, SMYD1, DLX2, GJA1, FOXP2
4	vision/eye phenotype	MP:0005391	7.7	SH3PXD2B, PITX2, CYP1B1, GJA1, FOXP2, FOXC1
5	cardiovascular system phenotype	MP:0005385	7.7	SH3PXD2B, PITX2, SMYD1, DLX2, GJA1, FOXP2
6	craniofacial phenotype	MP:0005382	7.6	FOXC1, POU1F1, SH3PXD2B, PITX2, DLX2, GJA1
7	cellular phenotype	MP:0005384	7.2	PITX2, SMYD1, DLX2, GJA1, FOXP2, FOXC1
8	homeostasis/metabolism phenotype	MP:0005376	7.1	PITX2, CYP1B1, DLX2, GJA1, FOXP2, FOXC1
9	growth/size phenotype	MP:0005378	7.1	POU1F1, SH3PXD2B, PITX2, SMYD1, DLX2, GJA1
10	mortality/aging	MP:0010768	7.1	POU1F1, SH3PXD2B, PITX2, SMYD1, DLX2, GJA1

Articles related to axenfeld-rieger syndrome:

(show all 27)

id	Title	Authors	Year	Affiliating Genes
1	Potential novel mechanism for Axenfeld-Rieger syndrom e: deletion of a distant region containing regulatory elements of PITX2. (20881290)	Volkmann B.A.... Semina E.V.	2011	PITX2
2	Axenfeld-Rieger syndrome and spectrum of PITX2 and FO XC1 mutations. (19513095)	TA1mer Z.... Bach-Holm D.	2009	PITX2, FOXC1
3	Analysis of mutations of the PITX2 transcription factor found in patients with Axenfeld-Rieger syndrome. (19218601)	Footz T.... Walter M.A.	2009	PITX2
4	Morphology of the sella turcica in Axenfeld-Rieger syndrome with PITX2 mutation. (18331556)	Meyer-Marcotty P.... Stellzig-Eisenhauer A.	2008	PITX2, FOXC1
5	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
6	A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome. (19052653)	Li D.... Qi Y.	2008	PITX2
7	Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome. (17653043)	Fuse N.... Nishida K.	2007	FOXC1, FOXP2
8	Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion. (17157569)	Martinez-Glez V.... Ayuso C.	2007	FOXC1
9	Reduced human and murine corneal thickness in an Axenfeld-Rieger syndrome subtype. (17065505)	Asai-Coakwell M.... Lehmann O.J.	2006	PITX2, FOXC1
10	Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis. (16449236)	Berry F.B.... Walter M.A.	2006	PITX2, FOXC1
11	Structural assessment of PITX2, FOXC1, CYP1B1, and GJA1 genes in patients with Axenfeld-Rieger syndrome with developmental glaucoma. (16638984)	Cella W.... Costa V.P.	2006	CYP1B1, GJA1, PITX2
12	Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome. (16834779)	Maciolek N.L.... McNally M.T.	2006	PITX2
13	Case of chromosome 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreous. (16470791)	Suzuki K.... Terasaki H.	2006	FOXC1
14	An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome. (16498627)	Saadi I.... Russo A.F.	2006	PITX2
15	Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report. (17134502)	de la Houssaye G.... Abitbol M.	2006	PITX2, FOXC1
16	Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. (17167399)	Vieira V.... Abitbol M.	2006	PITX2
17	Current molecular understanding of Axenfeld-Rieger syndrome. (16274491)	Hjalt T.A.... Semina E.V.	2005	PITX2, FOXC1
18	A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome. (15255117)	Brooks B.P.... Richards J.E.	2004	PITX2
19	Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome. (12612071)	Saadi I.... Russo A.F.	2003	PITX2, POU1F1
20	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
21	A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome. (11929847)	Espinoza H.M.... Amendt B.A.	2002	PITX2, DLX2
22	Four novel mutations in the PITX2 gene in patients with Axenfeld- Rieger syndrome. (12381896)	Phillips J.C.	2002	PITX2
23	A novel (Pro79Thr) mutation in the FKHL7 gene in a Japanese family with Axenfeld-Rieger syndrome. (11589884)	Suzuki T.... Tamai M.	2001	FOXC1
24	Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients. (11740218)	Kawase C.... Sheffield V.C.	2001	FOXC1
25	Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. (11487566)	Priston M.... Heon E.	2001	PITX2
26	Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. (10713890)	Mirzayans F.... Walter M.A.	2000	FOXC1
27	Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct. (8942889)	Walter M.A.... Pearce W.G.	1996	PITX2

Genes related to axenfeld-rieger syndrome according to GeneCards:

(show all 12)

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
3	DLX2	distal-less homeobox 2	11.0	Publications
4	ELSPBP1	epididymal sperm binding protein 1	11.0	Disorders
5	SMYD1	SET and MYND domain containing 1	11.0	Disorders
6	SLC13A3	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	11.0	Disorders
7	SH3PXD2B	SH3 and PX domains 2B	11.0
8	PAWR	PRKC, apoptosis, WT1, regulator	11.0
9	GJA1	gap junction protein, alpha 1, 43kDa	11.0	Publications
10	CYP1B1	cytochrome P450, family 1, subfamily B, polypeptide 1	11.0	Publications
11	FOXP2	forkhead box P2	11.0	Publications
12	POU1F1	POU class 1 homeobox 1	10.2	Publications

Compounds related to axenfeld-rieger syndrome according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	ptx132	9.7	PITX2, POU1F1

Biological processes related to axenfeld-rieger syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	eye development	GO:001654	9.7	FOXC1, SH3PXD2B
2	in utero embryonic development	GO:001701	9.1	PITX2, GJA1, FOXC1
3	positive regulation of transcription from RNA polymerase II promoter	GO:045944	9.1	FOXC1, DLX2, PITX2, POU1F1
4	heart development	GO:007507	8.9	FOXC1, GJA1, SMYD1, SH3PXD2B

Molecular functions related to axenfeld-rieger syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	RNA polymerase II activating transcription factor binding	GO:001102	9.7	PITX2, POU1F1
2	RNA polymerase II transcription coactivator activity	GO:001105	9.4	PITX2, POU1F1
3	sequence-specific DNA binding transcription factor activity	GO:003700	8.2	FOXC1, FOXP2, DLX2, PITX2, POU1F1