Aniridia malady

NIH Rare Diseases: Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).  Aniridia may occur either as an isolated eye abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. People with aniridia can also have other eye problems including increased pressure in the eye (glaucoma), clouding of the lens of the eye (cataracts), or underdevelopment of the structures that carry information from the eyes to the brain (optic nerves).  Individuals with aniridia may also have involuntary eye movements (nystagmus) or underdevelopment of the region at the back of the eye responsible for sharp central vision (foveal hypoplasia). Many of these eye problems contribute to progressive vision loss in affected individuals. The severity of symptoms is typically the same in both eyes.  Rarely, people with aniridia have behavioral problems, developmental delay, and problems detecting odors.Aniridia may be caused by mutations in the PAX6 gene and is inherited in an autosomal dominant pattern. More about Aniridia References National LIbrary of Medicine. Aniridia. Genetics Home Reference. June 2009 Available at: http://ghr.nlm.nih.gov/condition/aniridia. Accessed March 30, 2011. Hingorani M, Moore A. Aniridia. GeneReviews. August 12, 2008 Available at: http://www.ncbi.nlm.nih.gov/books/NBK1360/. Accessed March 30, 2011. ³⁰

MalaCards: Aniridia, also known as aniridia (disorder), is related to wagr syndrome and hernia. An important gene associated with Aniridia is PAX6 (paired box 6), and among its related pathways are Transcriptional Regulatory Network in Embryonic Stem Cell and Transcription factors in neurogenesis. The compounds ptx1 and proline have been mentioned in the context of this disorder. Affiliated tissues include brain and kidney, and related mouse phenotypes are taste/olfaction and no phenotypic analysis.

Genetics Home Reference: Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).¹⁷

Wikipedia: Aniridia is the absence of the iris. Aniridia usually involves both eyes. It can be congenital or caused...⁴⁴ more...

OMIM: 106210

GeneReviews summary for aniridia

Aliases & Descriptions:

aniridia 6 7 15 30 17 8 33 32 aniridia (disorder) 6 16 wagr syndrome 17 43

aplasia of iris (disorder) 6 aplasia, nos 43

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

(show top 50)    (show all 110)

id	Related Disease	Score	Top Affiliating Genes
1	wagr syndrome	31.0	H19, WT1, FSHB, MPPED2, MPPED1, BDNF
2	hernia	29.7	H19, PAX6, WT1, PAX3
3	cataract	28.3	PAX6, ATP2A2, FOXC1, WT1, CAT, OTX2
4	mental retardation syndrome	27.4	WT1, MPPED1, MPPED2, DEL11P13
5	peters anomaly	27.2	PAX6, FOXC1, CYP1B1, PITX2
6	wilms tumor	26.8	PAX2, BDNF, MPPED1, GPC3, CAT, WT1
7	anophthalmia	26.5	PITX3, PAX6, PAX2, OTX2, PITX2, SIX3
8	mayer-rokitansky-kuster-hauser syndrome	26.4	GCH1, BRCA2, PAX2, PAX6, HRAS
9	glaucoma	26.1	PAX6, PITX3, PITX2, HRAS, CYP1B1, OTX2
10	microphthalmia	26.1	SIX3, PITX3, PITX2, PAX6, OTX2, FOXE3
11	iris hypoplasia and glaucoma	13.6	FOXC1, PAX6
12	craniofacial-deafness-hand syndrome	13.6	PAX3, KIR2DS4
13	craniofacial anomalies	13.5	FOXC1, KIR2DS4, PAX3
14	anterior segment mesenchymal dysgenesis	13.5	PAX6, FOXE3, PITX3
15	axenfeld-rieger syndrome type 1	13.4	PITX3, PITX2
16	iris hypoplasia	13.4	PITX2, PAX6, FOXC1
17	waardenburg's syndrome	13.3	PAX3, PAX1, KIR2DS4, PAX6
18	glaucoma, congenital	13.3	FOXC1, CYP1B1, PAX6
19	diffuse mesangial sclerosis	13.3	PAX2, WT1
20	landau-kleffner syndrome	13.2	ELP4, BDNF
21	cataract-glaucoma	13.2	FOXC1, PAX6, PITX2, OTX2
22	iridogoniodysgenesis	13.2	FOXC1, PITX2, PITX3, FOXE3
23	renal coloboma syndrome	13.2	PAX2, PITX2
24	primary congenital glaucoma	13.2	CYP1B1, FOXC1
25	autosomal dominant disease	13.1	PAX3, PAX2, KRT12
26	axenfeld-rieger syndrome	13.1	CYP1B1, PITX2, FOXC1
27	hypopituitarism	13.1	SIX3, OTX2, FSHB
28	orbit embryonal rhabdomyosarcoma	13.0	KIR2DS4, PAX3, HRAS
29	early-onset glaucoma	13.0	CYP1B1, PITX2
30	juvenile glaucoma	13.0	FOXC1, HRAS, CYP1B1
31	cerebellar hypoplasia	13.0	FOXC1, PAX6, PAX2, PITX2
32	ductal carcinoma in situ	12.9	WT1, PAX6, FOXC1, BRCA2
33	congenital heart defect	12.9	PITX2, FOXC1, HRAS
34	stickler syndrome	12.7	FOXC1, PITX2, CAT, PAX6
35	anophthalmia/microphthalmia	12.7	PAX2, OTX2, PITX2, PITX3, SIX3
36	pancreatic ductal carcinoma	12.5	CYP1B1, FOXC1, BRCA2, PAX6, WT1
37	coloboma	12.4	KIR2DS4, PAX6, OTX2, PITX2, FOXE3, PAX2
38	developmental disabilities	12.4	PAX2, BDNF, PITX2, HRAS, FOXC1, PAX6
39	clear cell adenocarcinoma	12.2	PAX2, GPC3, WT1
40	nephroblastoma	12.1	PAX3, PAX6, PAX2, MPPED2, FSHB, CAT
41	hearing loss	11.9	CAT, PAX3, BDNF, FOXC1, PAX2, CYP1B1
42	blindness	11.8	CAT, FOXC1, PAX6, FSHB, CYP1B1, PITX3
43	retinoblastoma	11.7	WT1, OTX2, CAT, PAX6, HRAS, PAX3
44	testicular germ cell tumor	11.6	WT1, CYP1B1, GPC3, H19
45	rhabdomyosarcoma	11.5	GPC3, PAX3, KIR2DS4, WT1, HRAS, H19
46	astrocytoma	11.5	WT1, BRCA2, CYP1B1, OTX2, PAX6, HRAS
47	twinning	11.2	BDNF, FSHB, CAT, H19, BRCA2, PAX6
48	medulloblastoma	11.1	HRAS, OTX2, BRCA2, CYP1B1, BDNF, PAX6
49	germ cell tumor	11.0	BRCA2, GPC3, CYP1B1, WT1, H19, HRAS
50	retinitis	10.9	HRAS, PITX3, PAX3, PAX6, CAT, CYP1B1

Clinical features from OMIM: 106210

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to aniridia:

²²

MGI Mouse Phenotypes related to aniridia:

²⁵ (show all 23)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	taste/olfaction phenotype	MP:0005394	9.5	SIX3, OTX2, BDNF, PAX6
2	no phenotypic analysis	MP:0003012	8.7	PAX3, BDNF, HRAS, PITX2, KRT12, H19
3	pigmentation phenotype	MP:0001186	8.4	PAX1, PITX3, PITX2, OTX2, GPC3, FOXC1
4	muscle phenotype	MP:0005369	8.3	H19, WT1, PITX2, OTX2, FOXC1, ATP2A2
5	limbs/digits/tail phenotype	MP:0005371	7.7	H19, DNAJC24, PITX2, GPC3, FOXC1, PAX3
6	vision/eye phenotype	MP:0005391	7.7	PITX2, PITX3, KRT12, SIX3, H19, CYP1B1
7	respiratory system phenotype	MP:0005388	7.7	SIX3, WT1, PITX3, PITX2, OTX2, HRAS
8	normal phenotype	MP:0002873	7.6	PITX2, WT1, KRT12, LUZP2, H19, OTX2
9	tumorigenesis	MP:0002006	7.5	H19, CYP1B1, HRAS, CAT, ATP2A2, PAX6
10	craniofacial phenotype	MP:0005382	7.5	H19, SIX3, PITX2, OTX2, HRAS, GPC3
11	integument phenotype	MP:0010771	7.5	PITX3, HRAS, GPC3, FOXC1, ATP2A2, BDNF
12	renal/urinary system phenotype	MP:0005367	7.4	H19, WT1, HRAS, GPC3, FOXC1, ATP2A2
13	digestive/alimentary phenotype	MP:0005381	7.3	H19, SIX3, PITX2, OTX2, GPC3, FOXC1
14	endocrine/exocrine gland phenotype	MP:0005379	7.2	OTX2, PITX2, PITX3, WT1, H19, HRAS
15	skeleton phenotype	MP:0005390	6.9	OTX2, PITX2, PITX3, SIX3, H19, HRAS
16	nervous system phenotype	MP:0003631	6.9	HRAS, OTX2, PITX2, PITX3, SIX3, H19
17	embryogenesis phenotype	MP:0005380	6.8	PITX2, WT1, DNAJC24, SIX3, H19, OTX2
18	cardiovascular system phenotype	MP:0005385	6.8	H19, WT1, PITX2, OTX2, HRAS, GPC3
19	reproductive system phenotype	MP:0005389	6.6	GPC3, HRAS, OTX2, PITX2, PITX3, WT1
20	cellular phenotype	MP:0005384	6.1	CAT, OTX2, PITX2, PITX3, WT1, H19
21	growth/size phenotype	MP:0005378	6.1	HRAS, OTX2, PITX2, PITX3, WT1, DNAJC24
22	homeostasis/metabolism phenotype	MP:0005376	5.5	HRAS, OTX2, CYP1B1, PITX2, PITX3, WT1
23	mortality/aging	MP:0010768	5.2	CAT, HRAS, OTX2, PITX2, WT1, DNAJC24

Articles related to aniridia:

(show top 50)    (show all 92)

id	Title	Authors	Year	Affiliating Genes
1	A case of aniridia with unilateral Peters anomaly. (21397818)	Sawada M.... Hotta Y.	2011	PAX6
2	Identification of dominant FOXE3 and PAX6 mutations i n patients with congenital cataract and aniridia. (20806047)	BrAcmond-Gignac D.... Semina E.V.	2010	PAX6, FOXE3
3	Clinical and molecular aspects of aniridia. (20132240)	Kokotas H.... Petersen M.B.	2010	PAX6
4	Mutation analysis of the PAX6 gene in a family with congenital aniridia and cataract (19806578)	Lin Y.... Yang Z.L.	2009	PAX6
5	A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group. (19793656)	Bayrakli F.... Gunel M.	2009	PAX6
6	R240X mutation of the PAX6 gene in a Chinese family with congenital aniridia (19806579)	Wang L.M.... Li N.D.	2009	PAX6
7	Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother. (18484311)	Khan A.O.... Al-Amri A.	2008	PAX6, FOXC1
8	A novel mutation of the PAX6 gene identified in a northeastern Chinese family with congenital aniridia (18393239)	Kang Y.... Li Y.Y.	2008	PAX6
9	Two neonates with congenital aniridia: the necessity of genetic investigation (18402324)	van Os E.... Spruijt L.	2008	WT1, PAX6
10	Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. (18241071)	Robinson D.O.... Crolla J.A.	2008	PAX6
11	Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders. (18483559)	Redeker E.J.... Mannens M.M.	2008	PAX6
12	Aniridia with preserved visual function: a report of four cases with no mutations in PAX6. (18243151)	Traboulsi E.I.... Mohney B.G.	2008	PAX6
13	A novel PAX6 mutation (c.1286delC) in the patients with hereditary congenital aniridia. (18930890)	Sun D.G.... Ma X.	2008	PAX6
14	Three novel mutations of the PAX6 gene in Japanese aniridia patients. (17568989)	Kawano T.... Minoshima S.	2007	PAX6
15	Cloning and characterization of canine PAX6 and evaluation as a candidate gene in a canine model of aniridia. (17417604)	Hunter L.S.... Aguirre G.D.	2007	PAX6
16	Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations. (17485622)	Bamiou D.E.... Luxon L.M.	2007	PAX6
17	Small glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) syndrome. (17533022)	Dahan K.... Mariaud de Serre N.P.	2007	WT1
18	Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation. (17454233)	Bamiou D.E.... Luxon L.M.	2007	PAX6
19	Two novel PAX6 mutations identified in northeastern Chinese patients with aniridia. (17893655)	Yuan H.... Xu N.	2007	PAX6
20	A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. (17595013)	Graziano C.... Seri M.	2007	PAX6
21	Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients. (16543198)	Atchaneeyasakul L.O.... Limwongse C.	2006	PAX6
22	A rare case of aniridia and balanced translocation (5;11) (p15.3;q22) arising in the same subject: a challenge for genetic counseling. (16719277)	Vulcani-Freitas T.M.... Maciel-Guerra A.T.	2006	PAX6
23	Mutation analysis of PAX6 gene in a large Chinese family with aniridia. (15740668)	Song S.J.... Li L.S.	2005	PAX6
24	A novel PAX6 gene mutation in a Chinese family with aniridia. (15889018)	Song S.... Li L.	2005	PAX6
25	PAX6 gene mutations and genotype-phenotype correlations in sporadic cases of aniridia from India. (12868034)	Dharmaraj N.... Chakrabarti S.	2003	PAX6
26	Three novel PAX6 mutations in patients with aniridia. (12782766)	Zumkeller W.... Gal A.	2003	PAX6
27	A novel PAX6 gene mutation in an Indian aniridia patient. (12789139)	Neethirajan G.... Sundaresan P.	2003	PAX6
28	Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. (12386836)	Crolla J.A.... van Heyningen V.	2002	WT1, PAX6, ELP4
29	Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. (11479730)	GrA... Rosenberg T.	2001	PAX6
30	3' deletions cause aniridia by preventing PAX6 gene expression. (11087823)	Lauderdale J.D.... Glaser T.	2000	GCH1, PAX6
31	Renal failure in the Denys-Drash and Wilms' tumor-aniridia syndromes. (10945603)	Breslow N.E.... Green D.M.	2000	WT1
32	Prenatal diagnosis of aniridia. (10857836)	Churchill A.J.... Markham A.F.	2000	PAX6
33	A novel PAX6 frameshift mutation in a kindred from Atlantic Canada with familial aniridia. (10604054)	Gupta S.K.... Neumann P.E.	1999	PAX6
34	Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. (10234503)	Groenskov K.... Broendum-Nielsen K.	1999	PAX6
35	Various phenotypic expressions of familial aniridia w ith a PAX6 mutation. (10636680)	Negishi K.... Yamada M.	1999	PAX6
36	Polymerase chain reaction-based risk assessment for Wilms tumor in sporadic aniridia. (9625553)	Gupta S.K.... Neumann P.E.	1998	WT1, PAX6
37	Molecular genetic study of the PAX6 gene in aniridia patients (10025146)	Wolf M.... Wildhardt G.	1998	PAX6
38	Missense mutations in the PAX6 gene in aniridia. (9856761)	Azuma N.... Yamada M.	1998	PAX6
39	A nude mouse Wilms' tumor line (KCMC-WT-1) derived from an aniridia patient with monoalleleic partial deletion of chromosome 11p. (8616775)	Nagashima Y.... Misugi K.	1996	WT1
40	Aniridia: recent achievements in paediatric practice. (8529675)	Ivanov I.... Weitz R.	1995	PAX6
41	A new PAX6 mutation in familial aniridia. (7666404)	Hanson I.... van Heyningen V.	1995	PAX6
42	Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. (7795596)	Fantes J.... Mannens M.	1995	PAX6
43	Molecular analysis of aniridia patients for deletions involving the Wilms' tumor gene. (7927324)	Drechsler M.... Schroeder-Kurth T.	1994	WT1
44	Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins. (7909985)	Martha A.... Saunders G.F.	1994	PAX6
45	PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. (7951315)	Glaser T.... Maas R.L.	1994	PAX6
46	Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation). (8188215)	Glaser T.... Maas R.L.	1994	PAX6
47	Mutations in the PAX6 gene in patients with hereditary aniridia. (8111379)	Davis A.... Cowell J.K.	1993	PAX6
48	The human PAX6 gene is mutated in two patients with aniridia. (1302030)	Jordan T.... van Heyningen V.	1992	PAX6
49	Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. (1345175)	Glaser T.... Maas R.L.	1992	PAX6
50	Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. (1684738)	Ton C.C.T.... Saunders G.F.	1991	PAX6

Genes related to aniridia according to GeneCards:

(show all 33)

id	Symbol	Description	Score	GeneCards Section Context
1	PAX6	paired box 6	11.1	Summaries, Publications, Aliases & Descriptions
2	DEL11P13	Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome	11.1	Aliases & Descriptions
3	LUZP2	leucine zipper protein 2	11.1	Summaries, Disorders
4	FOXC1	forkhead box C1	11.0	Publications
5	WT1	Wilms tumor 1	11.0	Publications
6	KIR2DS4	killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4	11.0
7	PAX3	paired box 3	11.0
8	BDNF	brain-derived neurotrophic factor	11.0
9	FOXE3	forkhead box E3	11.0	Publications
10	KRT12	keratin 12	11.0	Publications
11	PRRG4	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	11.0	Disorders
12	PAX1	paired box 1	11.0
13	PAX4	paired box 4	11.0	Publications
14	PITX3	paired-like homeodomain 3	11.0
15	SIX3	SIX homeobox 3	11.0
16	OTX2	orthodenticle homeobox 2	11.0	Publications
17	IMMP1L	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	11.0	Disorders
18	FSHB	follicle stimulating hormone, beta polypeptide	11.0
19	DNAJC24	DnaJ (Hsp40) homolog, subfamily C, member 24	11.0	Disorders
20	DCDC1	doublecortin domain containing 1	11.0	Publications, Disorders
21	MPPED1	metallophosphoesterase domain containing 1	11.0	Orthologs
22	PITX2	paired-like homeodomain 2	11.0	Publications
23	MPPED2	metallophosphoesterase domain containing 2	11.0	Orthologs
24	ATP2A2	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	11.0	Publications
25	ELP4	elongator acetyltransferase complex subunit 4	11.0	Publications, Disorders
26	GCH1	GTP cyclohydrolase 1	11.0	Publications
27	CYP1B1	cytochrome P450, family 1, subfamily B, polypeptide 1	11.0	Publications
28	PAX2	paired box 2	11.0
29	HRAS	v-Ha-ras Harvey rat sarcoma viral oncogene homolog	11.0	Publications
30	CAT	catalase	11.0	Publications
31	H19	H19, imprinted maternally expressed transcript (non-protein coding)	9.3	Publications
32	GPC3	glypican 3	-9.7	Publications
33	BRCA2	breast cancer 2, early onset	-10.0	Publications

Pathways related to aniridia according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Transcriptional Regulatory Network in Embryonic Stem Cell36	10.0	PAX6, FOXC1, SIX3
2	Transcription factors in neurogenesis10	9.1	PAX3, PAX6, PAX2, OTX2, SIX3

Compounds related to aniridia according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	ptx132	9.9	PITX3, PITX2, FSHB
2	proline32	9.0	KRT12, WT1, CYP1B1, BDNF, PAX6, BRCA2
3	doxorubicin32 34 9 9	11.8	BDNF, CAT, HRAS, CYP1B1, WT1
4	steroid32	7.9	H19, WT1, CYP1B1, HRAS, FSHB, BDNF
5	retinoic acid32 42 18	9.7	H19, WT1, CYP1B1, HRAS, BDNF, PAX6
6	oligonucleotide32	7.5	BRCA2, WT1, PITX2, CYP1B1, OTX2, HRAS
7	tyrosine32	7.3	H19, WT1, PITX3, PITX2, CYP1B1, HRAS

Cellular components related to aniridia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein complex	GO:043234	8.7	GCH1, BRCA2, PAX2, ATP2A2, OTX2

Biological processes related to aniridia according to GeneDecks:

(show all 11)

id	Name	GO ID	Score	Top Affiliating Genes
1	forebrain anterior/posterior pattern specification	GO:021797	10.3	SIX3, PAX6
2	iris morphogenesis	GO:061072	10.1	PITX2, PAX6
3	metanephric epithelium development	GO:072207	10.0	PAX2, WT1
4	metanephric mesenchyme development	GO:072075	9.9	PAX2, WT1
5	camera-type eye development	GO:043010	9.8	PAX2, PITX2, WT1
6	mesenchymal to epithelial transition	GO:060231	9.6	PAX2, WT1
7	organ morphogenesis	GO:009887	9.6	PITX3, HRAS, PAX6, PAX3, PAX4
8	visual perception	GO:007601	9.4	SIX3, KRT12, CYP1B1, PAX2, PAX6
9	transcription from RNA polymerase II promoter	GO:006366	9.4	FOXE3, PAX2, PAX6, PAX3, PAX1
10	positive regulation of transcription, DNA-dependent	GO:045893	8.8	WT1, PITX3, OTX2, FOXC1, PAX2, PAX6
11	positive regulation of transcription from RNA polymerase II promoter	GO:045944	8.4	PAX1, SIX3, PITX2, OTX2, HRAS, FOXC1

Molecular functions related to aniridia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	sequence-specific DNA binding transcription factor activity	GO:003700	9.0	PITX3, PITX2, OTX2, FOXE3, FOXC1, PAX6
2	sequence-specific DNA binding	GO:043565	8.8	PAX4, SIX3, WT1, PITX3, OTX2, FOXE3