MCID: IRD008
MIFTS: 21

Iridogoniodysgenesis, Type 2 malady

Genetic diseases, Rare diseases categories

Summaries for Iridogoniodysgenesis, Type 2

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Disease Ontology:9 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, Type 2, also known as iridogoniodysgenesis syndrome, is related to hyper-igd syndrome and iridogoniodysgenesis, type 1, and has symptoms including abnormality of the teeth, glaucoma and iris hypopigmentation. An important gene associated with Iridogoniodysgenesis, Type 2 is PITX2 (paired-like homeodomain 2).

Description from OMIM:45 137600

Aliases & Classifications for Iridogoniodysgenesis, Type 2

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Iridogoniodysgenesis, Type 2, Aliases & Descriptions:

Name: Iridogoniodysgenesis, Type 2 45 10 60
Iridogoniodysgenesis Syndrome 9 43
Iridogoniodysgenesis Type 1 9
Iridogoniodysgenesis Type 2 9
 
Irid 1 9
Irid 2 9
Igds 9


Classifications:

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


External Ids:

OMIM45 137600
Disease Ontology9 DOID:0050786

Related Diseases for Iridogoniodysgenesis, Type 2

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Diseases in the Iridogoniodysgenesis, Type 1 family:

iridogoniodysgenesis, type 2 Iridogoniodysgenesis, Dominant Type

Diseases related to Iridogoniodysgenesis, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1hyper-igd syndrome10.8
2iridogoniodysgenesis, type 110.6
3myeloma10.5
4leukemia10.5
5iridogoniodysgenesis, dominant type10.4
6amyloidosis10.4
7plasma cell leukemia10.4
8selective igd deficiency disease10.2
9iridogoniodysgenesis type110.2
10persistent polyclonal b-cell lymphocytosis10.2
11multiple myeloma10.2
12chronic lymphocytic leukemia10.2
13extramedullary plasmacytoma10.2
14plasmacytoma10.2
15al amyloidosis10.2
16systemic lupus erythematosus10.1
17mevalonic aciduria10.1
18heavy chain disease10.1
19lupus erythematosus10.1
20plasma cell neoplasm10.1
21hodgkin lymphoma9.9
22b-cell lymphomas9.9
23glomerulonephritis9.9
24keratopathy9.9
25splenic marginal zone lymphoma9.9
26pityriasis rosea9.9
27pharyngitis9.9
28delta chain disease9.9
29aphthous stomatitis9.9
30granulomatous dermatitis9.9
31hemosiderosis9.9
32crescentic glomerulonephritis9.9
33dermatitis9.9
34histiocytosis9.9
35influenza9.9
36myositis9.9
37pericarditis9.9
38stomatitis9.9
39isolated gonadotropin-releasing hormone deficiency9.9
40acute myelomonocytic leukemia9.9
41chronic graft versus host disease9.9
42haemophilus influenzae9.9
43neurosyphilis9.9
44papular mucinosis9.9
45superior vena cava syndrome9.9
46blindness9.9
47cor pulmonale9.9
48nodular lymphocyte predominant hodgkin lymphoma9.9
49heavy chain deposition disease9.9

Graphical network of the top 20 diseases related to Iridogoniodysgenesis, Type 2:



Diseases related to iridogoniodysgenesis, type 2

Symptoms for Iridogoniodysgenesis, Type 2

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Symptoms by clinical synopsis from OMIM:

137600

Clinical features from OMIM:

137600

HPO human phenotypes related to Iridogoniodysgenesis, Type 2:

(show all 6)
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 autosomal dominant inheritance HP:0000006
6 abnormal facial shape HP:0001999

Drugs & Therapeutics for Iridogoniodysgenesis, Type 2

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Drug clinical trials:

Search ClinicalTrials for Iridogoniodysgenesis, Type 2

Search NIH Clinical Center for Iridogoniodysgenesis, Type 2

Genetic Tests for Iridogoniodysgenesis, Type 2

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Anatomical Context for Iridogoniodysgenesis, Type 2

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Animal Models for Iridogoniodysgenesis, Type 2 or affiliated genes

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Publications for Iridogoniodysgenesis, Type 2

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Variations for Iridogoniodysgenesis, Type 2

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UniProtKB/Swiss-Prot genetic disease variations for Iridogoniodysgenesis, Type 2:

62
id Symbol AA change Variation ID SNP ID
1PITX2p.Arg130TrpVAR_003762
2PITX2p.Arg115HisVAR_003765

Clinvar genetic disease variations for Iridogoniodysgenesis, Type 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1PITX2NM_153427.2(PITX2): c.250C> T (p.Arg84Trp)single nucleotide variantPathogenicrs121909248GRCh37Chr 4, 111542322: 111542322
2PITX2NM_153427.2(PITX2): c.206G> A (p.Arg69His)single nucleotide variantPathogenicrs104893861GRCh37Chr 4, 111542366: 111542366

Expression for genes affiliated with Iridogoniodysgenesis, Type 2

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Search GEO for disease gene expression data for Iridogoniodysgenesis, Type 2.

Pathways for genes affiliated with Iridogoniodysgenesis, Type 2

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Compounds for genes affiliated with Iridogoniodysgenesis, Type 2

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GO Terms for genes affiliated with Iridogoniodysgenesis, Type 2

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Products for genes affiliated with Iridogoniodysgenesis, Type 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Iridogoniodysgenesis, Type 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet