MCID: IRS007
MIFTS: 25

Iris Hypoplasia malady

Categories: Genetic diseases

Aliases & Classifications for Iris Hypoplasia

Aliases & Descriptions for Iris Hypoplasia:

Name: Iris Hypoplasia 24 29

Classifications:



Summaries for Iris Hypoplasia

MalaCards based summary : Iris Hypoplasia is related to peters anomaly and aphakia, congenital primary. An important gene associated with Iris Hypoplasia is PITX2 (Paired Like Homeodomain 2), and among its related pathways/superpathways are Platelet homeostasis and Mesodermal Commitment Pathway. 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 44)
id Related Disease Score Top Affiliating Genes
1 peters anomaly 31.2 CYP1B1 FOXC1 PAX6
2 aphakia, congenital primary 30.9 FOXC1 FOXE3 PAX6 PITX2 PITX3
3 edict syndrome 11.7
4 iridogoniodysgenesis, type 1 11.7
5 iridogoniodysgenesis, type 2 11.4
6 aniridia 11.3
7 aniridia 3 10.9
8 gillespie syndrome 10.8
9 anterior segment mesenchymal dysgenesis 10.8
10 anterior segment dysgenesis 8 10.8
11 corneal opacification and other ocular anomalies 10.8
12 donnai-barrow syndrome 10.8
13 immunodeficiency 10 10.8
14 scapuloperoneal syndrome, myopathic type 10.2 FOXC1 PITX2
15 cardiac arrhythmia, ankyrin-b-related 10.2 FOXC1 PITX2
16 silver spastic paraplegia syndrome 10.2 ITPR1 PAX6
17 orbital granuloma 10.2 FOXC1 PAX6 PITX2
18 kcnj10-related pendred syndrome 10.2 FOXC1 PAX6 TRIM44
19 cornea plana 10.2 FOXC1 PAX6 PITX2
20 coloboma of optic nerve 10.1 ELP4 PAX6 TRIM44
21 ring dermoid of cornea 10.1 PAX6 PITX2 PITX3
22 stormorken syndrome 10.1 MIR4687 STIM1
23 skin granular cell tumor 10.1 ELP4 FOXC1 PAX6 PITX2
24 chronic tympanitis 10.1 CYP1B1 FOXC1
25 hereditary xanthinuria 10.1 CYP1B1 PITX2
26 conjunctival folliculosis 10.0 CYP1B1 FOXC1 PITX2
27 meier-gorlin syndrome 1 10.0 FOXE3 PAX6 PITX3
28 ceroid lipofuscinosis, neuronal, 2 10.0 MIR4687 STIM1
29 pseudopterygium 10.0 FOXE3 PAX6 PITX3
30 red-green color vision defects 10.0 CYP1B1 FOXC1
31 rippling muscle disease 2 9.9 FOXE3 PXDN
32 hypertrophy of breast 9.9 CYP1B1 FOXC1 PAX6 PITX2
33 nevoid hypermelanosis, linear and whorled 9.9 CYP1B1 FOXC1 PITX2
34 cornelia de lange syndrome 5 9.9 CYP1B1 FOXE3 PAX6
35 cystinosis 9.8 PAX6 PITX3 PXDN
36 cataract 9.8
37 deafness, autosomal recessive 91 9.7 CYP1B1 FOXC1 FOXE3 PAX6 PITX2
38 incontinentia pigmenti 9.6
39 ptosis 9.6
40 patent ductus arteriosus 9.6
41 endotheliitis 9.6
42 myopia 7 9.4 CYP1B1 ELP4 FOXC1 FOXE3 PAX6 PITX2
43 muir-torre syndrome 9.1 CPAMD8 CYP1B1 FOXC1 FOXE3 PAX6 PITX2
44 jph2-related familial hypertrophic cardiomyopathy 8.3 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 PITX3 PXDN FOXC1 PAX6 PITX2
2 vision/eye MP:0005391 9.23 PITX3 PXDN STIM1 CYP1B1 FOXC1 ITPR1

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
Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform. ( 11983873 )
2002
7
Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (edict) syndrome maps to chromosome 15q22.1-q25.3. ( 12140022 )
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

GO Terms for Iris Hypoplasia

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 regulation of transcription from RNA polymerase II promoter GO:0006357 9.84 ELP4 FOXE3 PAX6 PITX2
2 transcription from RNA polymerase II promoter GO:0006366 9.83 FOXC1 FOXE3 PAX6 PITX2 PITX3
3 regulation of gene expression GO:0010468 9.7 PAX6 PITX3 TRIM44
4 animal organ morphogenesis GO:0009887 9.63 PAX6 PITX2 PITX3
5 collagen fibril organization GO:0030199 9.55 CYP1B1 FOXC1
6 pituitary gland development GO:0021983 9.51 PAX6 PITX2
7 lens development in camera-type eye GO:0002088 9.5 FOXE3 PAX6 PITX3
8 positive regulation of DNA binding GO:0043388 9.49 FOXC1 PITX2
9 negative regulation of neurogenesis GO:0050768 9.48 PAX6 PITX3
10 camera-type eye development GO:0043010 9.46 FOXC1 FOXE3 PAX6 PITX2
11 cornea development in camera-type eye GO:0061303 9.4 FOXE3 PAX6
12 lacrimal gland development GO:0032808 9.37 FOXC1 PAX6
13 trabecular meshwork development GO:0002930 9.26 CYP1B1 FOXE3
14 iris morphogenesis GO:0061072 9.13 FOXE3 PAX6 PITX2
15 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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