MCID: IRD007
MIFTS: 22

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 51 24 12 67
Iris Hypoplasia and Glaucoma 51 47 26
Iris Hypoplasia with Glaucoma 67
Iridogoniodysgenesis Anomaly 69
 
Irid1 24
Igda 69
Ihg 47

Characteristics:

HPO:

63
Inheritance: x-linked inheritance
iridogoniodysgenesis, type 1:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 601631

Summaries for Iridogoniodysgenesis, Type 1

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NIH Rare Diseases:47 Iridogoniodysgenesis type 1 is a rare condition that affects the eyes. People with this condition are born with malformations of the iris (the colored part of the eye) and cornea, which eventually lead to early-onset glaucoma. The irides of affected people are unusually dark. For example, studies of the condition often describe 'brown' irides as a dark, chocolate color and 'blue' irides as a very dark, slate gray. The iris also lacks the usual pattern and has a smooth appearance. Iridogoniodysgenesis type 1 is caused by changes (mutations) in the FOXC1 gene and is inherited in an autosomal dominant manner. Management is based on the signs and symptoms present in each person and is generally focused on the screening and eventual treatment of glaucoma. Last updated: 3/22/2016

MalaCards based summary: Iridogoniodysgenesis, Type 1, also known as iris hypoplasia and glaucoma, is related to iridogoniodysgenesis, type 2 and interstitial granulomatous dermatitis with arthritis, 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.

OMIM:51 Autosomal dominant iridogoniodysgenesis type 1, which is characterized by iris hypoplasia, goniodysgenesis, and... (601631) more...

UniProtKB/Swiss-Prot:69 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 211.1
2interstitial granulomatous dermatitis with arthritis10.9
3iris hypoplasia9.8

Symptoms for Iridogoniodysgenesis, Type 1

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Symptoms by clinical synopsis from OMIM:

601631

Clinical features from OMIM:

601631

Human phenotypes related to Iridogoniodysgenesis, Type 1:

 63 (show all 6)
id Description HPO Frequency HPO Source Accession
1 cerebellar vermis hypoplasia63 rare (5%) HP:0001320
2 enlarged cisterna magna63 rare (5%) HP:0002280
3 glaucoma63 HP:0000501
4 hypoplasia of the iris63 HP:0007676
5 abnormal iris vasculature63 HP:0007905
6 hypoplastic iris stroma63 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 Glaucoma26
2 Iridogoniodysgenesis, Type 124 FOXC1

Anatomical Context for Iridogoniodysgenesis, Type 1

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MalaCards organs/tissues related to Iridogoniodysgenesis, Type 1:

35
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:

69
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 DELdeletionPathogenicChr na, -1: -1
2FOXC1FOXC1, DUPduplicationPathogenicChr na, -1: -1

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet