MCID: IRD007
MIFTS: 29

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 49 11 22 65
Iris Hypoplasia and Glaucoma 49 45 24
Iris Hypoplasia with Glaucoma 65
Iridogoniodysgenesis Anomaly 67
 
Irid1 22
Igda 67
Ihg 45

Characteristics:

HPO:

61
iridogoniodysgenesis, type 1:
Inheritance: autosomal dominant inheritance
Inheritance: x-linked inheritance


Classifications:



External Ids:

OMIM49 601631
UMLS65 C1839928, C1866560

Summaries for Iridogoniodysgenesis, Type 1

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OMIM:49 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 interstitial granulomatous dermatitis with arthritis, and has symptoms including enlarged cisterna magna, cerebellar vermis hypoplasia and hypoplastic iris stroma. An important gene associated with Iridogoniodysgenesis, Type 1 is FOXC1 (Forkhead Box C1). Affiliated tissues include eye.

UniProtKB/Swiss-Prot:67 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 212.0
2interstitial granulomatous dermatitis with arthritis11.4
3scrapie10.2

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 enlarged cisterna magna rare (5%) HP:0002280
2 cerebellar vermis hypoplasia rare (5%) HP:0001320
3 hypoplastic iris stroma HP:0007990
4 abnormal iris vasculature HP:0007905
5 glaucoma HP:0000501
6 hypoplasia of the iris HP:0007676

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 Iridogoniodysgenesis, Type 122 FOXC1

Anatomical Context for Iridogoniodysgenesis, Type 1

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MalaCards organs/tissues related to Iridogoniodysgenesis, Type 1:

33
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:

67
id Symbol AA change Variation ID SNP ID
1FOXC1p.Phe112SerVAR_007815

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet