Axenfeld-rieger Syndrome Type 1 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 Type 1, also known as rieg, is related to axenfeld-rieger syndrome type 3 and axenfeld-rieger syndrome type 2. An important gene associated with Axenfeld-rieger Syndrome Type 1 is PITX2 (paired-like homeodomain 2).

OMIM: 180500

axenfeld-rieger syndrome type 1 30 rieg 30 32 axenfeld-rieger syndrome, type 1 33 rieger syndrome type 1 30

rieger syndrome 43 rieg1 30 rgs 30

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 type 1 by text searches and GeneDecks gene sharing:

(show top 50)    (show all 113)

id	Related Disease	Score	Top Affiliating Genes
1	axenfeld-rieger syndrome type 3	10.2
2	axenfeld-rieger syndrome type 2	9.9
3	schizophrenia	9.5
4	axenfeld-rieger syndrome	9.3
5	retinitis	8.5
6	anorexia nervosa	8.4
7	squamous cell carcinoma	8.3
8	anterior segment mesenchymal dysgenesis	7.8
9	anterior segment mesenchymal dysgenesis and cataract	7.8
10	foxe3-related anterior segment mesenchymal dysgenesis	7.8
11	combined immunodeficiency	7.7
12	huntington's disease	7.7
13	severe combined immunodeficiency	7.7
14	prostate cancer	7.6
15	acute lymphoblastic leukemia	7.5
16	bradyopsia	7.5
17	lymphoblastic leukemia	7.5
18	pertussis	7.5
19	parkinson's disease	7.3
20	alzheimer's disease	7.1
21	bipolar disorder	6.9
22	esophagitis	6.9
23	hairy cell leukemia	6.9
24	t-cell leukemia	6.9
25	ischemia	6.7
26	pharyngitis	6.7
27	gamma chain deficiency	6.4
28	generalized anxiety disorder	6.4
29	high blood pressure	6.4
30	neutropenia	6.4
31	panic disorder	6.4
32	periodontitis	6.4
33	ptosis	6.4
34	yaws	6.4
35	anxiety disorder	6.4
36	astrocytoma	6.4
37	bipolar i disorder	6.0
38	lymphopenia	6.0
39	burkitt's lymphoma	6.0
40	bronchiolitis	6.0
41	malaria	6.0
42	cholangiocarcinoma	6.0
43	mantle cell lymphoma	6.0
44	celiac disease	6.0
45	measles	6.0
46	crohn's disease	6.0
47	pulmonary disease	6.0
48	early-onset familial alzheimer disease	6.0
49	polycystic ovary syndrome	6.0
50	pancreatic cancer	6.0

Clinical features from OMIM: 180500

Approved drugs:

Drug clinical trials:

Genes related to axenfeld-rieger syndrome type 1 according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	PITX2	paired-like homeodomain 2	11.1	Disorders