MCID: IRS007
MIFTS: 25

Iris Hypoplasia

Categories: Genetic diseases

Aliases & Classifications for Iris Hypoplasia

MalaCards integrated aliases for Iris Hypoplasia:

Name: Iris Hypoplasia 24
Hypoplasia of the Iris 29

Classifications:



Summaries for Iris Hypoplasia

MalaCards based summary : Iris Hypoplasia, also known as hypoplasia of the iris, is related to anterior segment dysgenesis 2, multiple subtypes and anterior segment dysgenesis 5, multiple subtypes. An important gene associated with Iris Hypoplasia is PITX2 (Paired Like Homeodomain 2), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Heart Development. Affiliated tissues include endothelial, and related phenotypes are pigmentation and vision/eye

Related Diseases for Iris Hypoplasia

Diseases related to Iris Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
id Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 2, multiple subtypes 31.0 FOXE3 PITX3
2 anterior segment dysgenesis 5, multiple subtypes 28.1 CYP1B1 ELP4 FOXC1 FOXE3 PAX6 PITX2
3 iris hypoplasia and glaucoma 12.1
4 edict syndrome 11.7
5 anterior segment dysgenesis 4 11.5
6 anterior segment dysgenesis 3, multiple subtypes 11.5
7 aniridia 11.3
8 anterior segment dysgenesis 7, with sclerocornea 10.9
9 anterior segment dysgenesis 6, multiple subtypes 10.9
10 gillespie syndrome 10.9
11 anterior segment dysgenesis 1, multiple subtypes 10.9
12 aniridia 2 10.9
13 aniridia 3 10.9
14 anterior segment dysgenesis 8 10.9
15 donnai-barrow syndrome 10.7
16 immunodeficiency 10 10.7
17 hypogonadotropic hypogonadism 24 without anosmia 10.5 ELP4 PAX6
18 larsen-like syndrome 10.5 FOXC1 PITX2
19 jag1-related alagille syndrome 10.3 FOXC1 PAX6 TRIM44
20 adrenal cortical hypofunction 10.3 FOXC1 PAX6 PITX2
21 parietal foramina 10.3 FOXC1 PAX6 PITX2
22 mitral valve prolapse, myxomatous 3 10.3 FOXC1 PITX2
23 age-related hearing impairment 2 10.2 ITPR1 PAX6
24 coloboma of optic nerve 10.2 ELP4 PAX6 TRIM44
25 foveal hypoplasia 1 10.2 CYP1B1 PAX6
26 ring dermoid of cornea 10.2 PAX6 PITX2 PITX3
27 skin granular cell tumor 10.0 ELP4 FOXC1 PAX6 PITX2
28 cardiac arrhythmia, ankyrin-b-related 10.0 FOXC1 PITX2
29 conjunctival folliculosis 10.0 CYP1B1 FOXC1 PITX2
30 taeniasis 9.9 CYP1B1 FOXC1 PITX2
31 familial male-limited precocious puberty 9.9 CYP1B1 PITX2
32 cataract 9.8
33 anal spasm 9.8 FOXE3 PAX6
34 nail disorder, nonsyndromic congenital, 1 9.8 CYP1B1 FOXC1 PITX2
35 glaucoma 3a, primary open angle, congenital, juvenile, or adult onset 9.7 CYP1B1 FOXC1 PAX6 PITX2
36 lactocele 9.7 CYP1B1 FOXC1 PAX6 PITX2
37 type i ehlers-danlos syndrome 9.7 CYP1B1 FOXC1 PAX6 PITX2
38 incontinentia pigmenti 9.6
39 ptosis 9.6
40 patent ductus arteriosus 9.6
41 axenfeld-rieger syndrome 9.6
42 endotheliitis 9.6
43 anorectal stricture 9.6 FOXE3 PAX6 PITX3
44 cataract 11, multiple types 9.4 FOXE3 PAX6 PITX2 PITX3
45 breast-ovarian cancer, familial, 2 8.5 CYP1B1 FOXC1 FOXE3 PAX6 PITX2 PITX3
46 isolated microphthalmia 5.7 CPAMD8 CYP1B1 ELP4 FOXC1 FOXE3 IHG1

Graphical network of the top 20 diseases related to Iris Hypoplasia:



Diseases related to Iris Hypoplasia

Symptoms & Phenotypes for Iris Hypoplasia

MGI Mouse Phenotypes related to Iris Hypoplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.35 FOXC1 PAX6 PITX2 PITX3 PXDN
2 vision/eye MP:0005391 9.23 CYP1B1 FOXC1 ITPR1 PAX6 PITX2 PITX3

Drugs & Therapeutics for Iris Hypoplasia

Search Clinical Trials , NIH Clinical Center for Iris Hypoplasia

Genetic Tests for Iris Hypoplasia

Genetic tests related to Iris Hypoplasia:

id Genetic test Affiliating Genes
1 Hypoplasia of the Iris 29
2 Iris Hypoplasia 24 PITX2

Anatomical Context for Iris Hypoplasia

MalaCards organs/tissues related to Iris Hypoplasia:

39
Endothelial

Publications for Iris Hypoplasia

Articles related to Iris Hypoplasia:

(show all 13)
id Title Authors Year
1
A novel PITX2 mutation causing iris hypoplasia. ( 27081499 )
2014
2
PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia? ( 23566044 )
2013
3
Iris hypoplasia and aorticopulmonary septal defect: a neurocristopathy. ( 15956947 )
2005
4
Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1. ( 16118645 )
2005
5
Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray. ( 15221791 )
2004
6
Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (edict) syndrome maps to chromosome 15q22.1-q25.3. ( 12140022 )
2002
7
Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform. ( 11983873 )
2002
8
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. ( 11007653 )
2000
9
Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent. ( 10532176 )
1999
10
Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. ( 9437321 )
1998
11
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). ( 7581385 )
1995
12
Evaluation of zones of iris hypoplasia in horses and ponies. ( 1577645 )
1992
13
Iris hypoplasia in incontinentia pigmenti. ( 7175627 )
1982

Variations for Iris Hypoplasia

Expression for Iris Hypoplasia

Search GEO for disease gene expression data for Iris Hypoplasia.

Pathways for Iris Hypoplasia

Pathways related to Iris Hypoplasia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.41 ELP4 FOXC1 PAX6 PITX2
2 10.82 FOXC1 PITX2
3 10.76 FOXC1 ITPR1 PAX6

GO Terms for Iris Hypoplasia

Biological processes related to Iris Hypoplasia according to GeneCards Suite gene sharing:

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.86 FOXC1 PAX6 PITX2 PITX3
2 regulation of transcription from RNA polymerase II promoter GO:0006357 9.83 ELP4 FOXE3 PAX6 PITX2
3 transcription from RNA polymerase II promoter GO:0006366 9.83 FOXC1 FOXE3 PAX6 PITX2 PITX3
4 brain development GO:0007420 9.74 FOXC1 PAX6 PITX2
5 regulation of gene expression GO:0010468 9.71 PAX6 PITX3 TRIM44
6 animal organ morphogenesis GO:0009887 9.63 PAX6 PITX2 PITX3
7 collagen fibril organization GO:0030199 9.55 CYP1B1 FOXC1
8 pituitary gland development GO:0021983 9.51 PAX6 PITX2
9 lens development in camera-type eye GO:0002088 9.5 FOXE3 PAX6 PITX3
10 positive regulation of DNA binding GO:0043388 9.49 FOXC1 PITX2
11 negative regulation of neurogenesis GO:0050768 9.48 PAX6 PITX3
12 camera-type eye development GO:0043010 9.46 FOXC1 FOXE3 PAX6 PITX2
13 cornea development in camera-type eye GO:0061303 9.4 FOXE3 PAX6
14 lacrimal gland development GO:0032808 9.37 FOXC1 PAX6
15 trabecular meshwork development GO:0002930 9.26 CYP1B1 FOXE3
16 iris morphogenesis GO:0061072 9.13 FOXE3 PAX6 PITX2
17 eye development GO:0001654 8.92 CPAMD8 FOXC1 FOXE3 PAX6

Molecular functions related to Iris Hypoplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.55 FOXC1 FOXE3 PAX6 PITX2 PITX3
2 sequence-specific DNA binding GO:0043565 9.35 FOXC1 FOXE3 PAX6 PITX2 PITX3
3 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 8.92 FOXC1 FOXE3 PAX6 PITX2

Sources for Iris Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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