MCID: IRD007
MIFTS: 21

Iridogoniodysgenesis, Type 1 malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Iridogoniodysgenesis, Type 1

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Aliases & Descriptions for Iridogoniodysgenesis, Type 1:

Name: Iridogoniodysgenesis, Type 1 50 23 12 66
Iris Hypoplasia and Glaucoma 50 46 25
Iris Hypoplasia with Glaucoma 66
Iridogoniodysgenesis Anomaly 68
 
Irid1 23
Igda 68
Ihg 46

Characteristics:

HPO:

62
Inheritance: x-linked inheritance
iridogoniodysgenesis, type 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 601631

Summaries for Iridogoniodysgenesis, Type 1

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OMIM:50 Autosomal dominant iridogoniodysgenesis type 1, which is characterized by iris hypoplasia, goniodysgenesis, and... (601631) more...

MalaCards based summary: Iridogoniodysgenesis, Type 1, also known as iris hypoplasia and glaucoma, is related to iridogoniodysgenesis, type 2 and iris hypoplasia, and has symptoms including cerebellar vermis hypoplasia, enlarged cisterna magna and glaucoma. An important gene associated with Iridogoniodysgenesis, Type 1 is FOXC1 (Forkhead Box C1). Affiliated tissues include eye.

UniProtKB/Swiss-Prot:68 Iridogoniodysgenesis anomaly: Autosomal dominant phenotype characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma.

Related Diseases for Iridogoniodysgenesis, Type 1

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Diseases in the Iridogoniodysgenesis, Type 1 family:

Iridogoniodysgenesis, Type 2

Diseases related to Iridogoniodysgenesis, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1iridogoniodysgenesis, type 211.6
2iris hypoplasia9.9

Symptoms for Iridogoniodysgenesis, Type 1

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Symptoms by clinical synopsis from OMIM:

601631

Clinical features from OMIM:

601631

HPO human phenotypes related to Iridogoniodysgenesis, Type 1:

(show all 6)
id Description Frequency HPO Source Accession
1 cerebellar vermis hypoplasia rare (5%) HP:0001320
2 enlarged cisterna magna rare (5%) HP:0002280
3 glaucoma HP:0000501
4 hypoplasia of the iris HP:0007676
5 abnormal iris vasculature HP:0007905
6 hypoplastic iris stroma HP:0007990

Drugs & Therapeutics for Iridogoniodysgenesis, Type 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Iridogoniodysgenesis, Type 1

Genetic Tests for Iridogoniodysgenesis, Type 1

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Genetic tests related to Iridogoniodysgenesis, Type 1:

id Genetic test Affiliating Genes
1 Iris Hypoplasia and Glaucoma25
2 Iridogoniodysgenesis, Type 123 FOXC1

Anatomical Context for Iridogoniodysgenesis, Type 1

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MalaCards organs/tissues related to Iridogoniodysgenesis, Type 1:

34
Eye

Animal Models for Iridogoniodysgenesis, Type 1 or affiliated genes

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Publications for Iridogoniodysgenesis, Type 1

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Variations for Iridogoniodysgenesis, Type 1

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UniProtKB/Swiss-Prot genetic disease variations for Iridogoniodysgenesis, Type 1:

68
id Symbol AA change Variation ID SNP ID
1FOXC1p.Phe112SerVAR_007815rs104893951

Clinvar genetic disease variations for Iridogoniodysgenesis, Type 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FOXC1FOXC1, 11-BP DELdeletionPathogenic
2FOXC1FOXC1, DUPduplicationPathogenic

Expression for genes affiliated with Iridogoniodysgenesis, Type 1

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Search GEO for disease gene expression data for Iridogoniodysgenesis, Type 1.

Pathways for genes affiliated with Iridogoniodysgenesis, Type 1

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GO Terms for genes affiliated with Iridogoniodysgenesis, Type 1

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Sources for Iridogoniodysgenesis, Type 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet