IGDS
MCID: IRD010
MIFTS: 43

Iridogoniodysgenesis Syndrome (IGDS) malady

Genetic diseases, Eye diseases, Fetal diseases, Rare diseases categories
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Summaries for Iridogoniodysgenesis Syndrome

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Disease Ontology:8 An autosomal dominant disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has material basis in autosomal dominant inheritance of mutations in the pitx2 gene.

MalaCards based summary: Iridogoniodysgenesis Syndrome, also known as iridogoniodysgenesis, type 2, is related to axenfeld-rieger syndrome and aniridia, and has symptoms including An important gene associated with Iridogoniodysgenesis Syndrome is PITX2 (paired-like homeodomain 2), and among its related pathways is Heart Development. Affiliated tissues include eye, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Descriptions from OMIM:46 601631,137600,602482

Aliases & Classifications for Iridogoniodysgenesis Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 20GeneTests, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Iridogoniodysgenesis Syndrome, Aliases & Descriptions:

Name: Iridogoniodysgenesis Syndrome 8 44 62
Iridogoniodysgenesis, Type 2 9 46 62
Iridogoniodysgenesis, Type 1 9 20 46
Iridogoniodysgenesis Type 1 8
Iridogoniodysgenesis Type 2 8
Axenfeld Anomaly 48
 
Rieger's Anomaly 62
Rieger Anomaly 48
Irid 2 8
Irid 1 8
Igds 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Eye diseases


External Ids:

Disease Ontology8 DOID:0050786
ICD10 via Orphanet26 Q13.8
UMLS via Orphanet63 C0266548

Related Diseases for Iridogoniodysgenesis Syndrome

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Diseases in the Iridogoniodysgenesis Syndrome family:

Iridogoniodysgenesis, Dominant Type

Diseases related to Iridogoniodysgenesis Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1axenfeld-rieger syndrome30.4FOXC1, PITX2
2aniridia30.0PITX2, FOXC1
3hyper-igd syndrome10.8
4short syndrome10.7
5myeloma10.5
6leukemia10.5
7amyloidosis10.4
8plasma cell leukemia10.4
9brain small vessel disease with axenfeld-rieger anomaly10.3
10iridogoniodysgenesis, dominant type10.3
11iris dysplasia hypertelorism deafness10.3
12scaphocephaly and axenfeld-rieger anomaly10.3
13iridogoniodysgenesis type110.2
14chronic lymphocytic leukemia10.2
15multiple myeloma10.2
16selective igd deficiency disease10.2
17mevalonic aciduria10.2
18extramedullary plasmacytoma10.2
19plasmacytoma10.2
20al amyloidosis10.2
21persistent polyclonal b-cell lymphocytosis10.2
22retinitis10.1
23ramon syndrome10.1
24coloboma10.1
25wolf-hirschhorn syndrome10.1
26fuchs' endothelial dystrophy10.1
27axenfeld-rieger syndrome type 110.1
28axenfeld-rieger syndrome type 310.1
29endotheliitis10.1
30de hauwere syndrome10.1
31systemic lupus erythematosus10.1
32familial mediterranean fever10.1
33heavy chain disease10.1
34lupus erythematosus10.1
35peters plus syndrome9.9PITX2, FOXC1
36b-cell lymphomas9.9
37glomerulonephritis9.9
38graft versus host disease9.9
39keratopathy9.9
40splenic marginal zone lymphoma9.9
41crescentic glomerulonephritis9.9
42aphthous stomatitis9.9
43granulomatous dermatitis9.9
44pityriasis rosea9.9
45hemosiderosis9.9
46delta chain disease9.9
47dermatitis9.9
48histiocytosis9.9
49influenza9.9
50myositis9.9

Graphical network of the top 20 diseases related to Iridogoniodysgenesis Syndrome:



Diseases related to iridogoniodysgenesis syndrome

Symptoms for Iridogoniodysgenesis Syndrome

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Symptoms by clinical synopsis from OMIM:

137600

Clinical features from OMIM:

601631,137600,602482

HPO human phenotypes related to Iridogoniodysgenesis Syndrome:

(show all 12)
id Description Frequency HPO Source Accession
1 abnormality of the teeth hallmark (90%) HP:0000164
2 glaucoma hallmark (90%) HP:0000501
3 iris hypopigmentation hallmark (90%) HP:0007730
4 hypoplastic iris stroma hallmark (90%) HP:0007990
5 cerebellar vermis hypoplasia rare (5%) HP:0001320
6 enlarged cisterna magna rare (5%) HP:0002280
7 autosomal dominant inheritance HP:0000006
8 abnormal facial shape HP:0001999
9 autosomal dominant inheritance HP:0000006
10 glaucoma HP:0000501
11 abnormal iris vasculature HP:0007905
12 hypoplastic iris stroma HP:0007990

Drugs & Therapeutics for Iridogoniodysgenesis Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Iridogoniodysgenesis Syndrome

Genetic Tests for Iridogoniodysgenesis Syndrome

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Genetic tests related to Iridogoniodysgenesis Syndrome:

id Genetic test Affiliating Genes
1 Iridogoniodysgenesis, Type 120 FOXC1

Anatomical Context for Iridogoniodysgenesis Syndrome

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MalaCards organs/tissues related to Iridogoniodysgenesis Syndrome:

32
Eye

Animal Models for Iridogoniodysgenesis Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Iridogoniodysgenesis Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3FOXC1, PITX2
2MP:00053719.3FOXC1, PITX2
3MP:00053829.2FOXC1, PITX2
4MP:00053709.2FOXC1, PITX2
5MP:00053889.1PITX2, FOXC1
6MP:00053699.1FOXC1, PITX2
7MP:00053819.0FOXC1, PITX2
8MP:00053918.8FOXC1, PITX2

Publications for Iridogoniodysgenesis Syndrome

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Articles related to Iridogoniodysgenesis Syndrome:

idTitleAuthorsYear
1
Iridogoniodysgenesis syndrome: a case report. (19175065)
2008
2
Histopathology and molecular basis of iridogoniodysgenesis syndrome. (10420192)
1999
3
Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. (9618168)
1998

Variations for Iridogoniodysgenesis Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Iridogoniodysgenesis Syndrome:

64
id Symbol AA change Variation ID SNP ID
1FOXC1p.Phe112SerVAR_007815
2PITX2p.Arg130TrpVAR_003762
3PITX2p.Arg115HisVAR_003765

Clinvar genetic disease variations for Iridogoniodysgenesis Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1FOXC1NM_001453.2(FOXC1): c.889C> T (p.Pro297Ser)single nucleotide variantPathogenicrs79691946GRCh37Chr 6, 1611569: 1611569
2PITX2NM_153427.2(PITX2): c.250C> T (p.Arg84Trp)single nucleotide variantPathogenicrs121909248GRCh37Chr 4, 111542322: 111542322
3PITX2NM_153427.2(PITX2): c.206G> A (p.Arg69His)single nucleotide variantPathogenicrs104893861GRCh37Chr 4, 111542366: 111542366
4FOXC1FOXC1, DUPduplicationPathogenic

Expression for genes affiliated with Iridogoniodysgenesis Syndrome

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Expression patterns in normal tissues for genes affiliated with Iridogoniodysgenesis Syndrome

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Pathways for genes affiliated with Iridogoniodysgenesis Syndrome

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Pathways related to Iridogoniodysgenesis Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1FOXC1, PITX2

Compounds for genes affiliated with Iridogoniodysgenesis Syndrome

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GO Terms for genes affiliated with Iridogoniodysgenesis Syndrome

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Cellular components related to Iridogoniodysgenesis Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.1FOXC1, PITX2

Biological processes related to Iridogoniodysgenesis Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1camera-type eye developmentGO:0430109.2FOXC1, PITX2
2odontogenesis of dentin-containing toothGO:0424759.2FOXC1, PITX2
3in utero embryonic developmentGO:0017019.1FOXC1, PITX2
4regulation of transcription, DNA-templatedGO:0063559.1FOXC1, PITX2
5negative regulation of transcription from RNA polymerase II promoterGO:0001229.0PITX2, FOXC1
6positive regulation of transcription from RNA polymerase II promoterGO:0459448.8FOXC1, PITX2

Molecular functions related to Iridogoniodysgenesis Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:0037009.1FOXC1, PITX2
2chromatin DNA bindingGO:0314909.0FOXC1, PITX2
3transcription factor bindingGO:0081348.8FOXC1, PITX2

Products for genes affiliated with Iridogoniodysgenesis Syndrome

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Sources for Iridogoniodysgenesis Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet