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 52 24 12 68
Iris Hypoplasia and Glaucoma 52 48 27
Iris Hypoplasia with Glaucoma 68
Iridogoniodysgenesis Anomaly 70
 
Irid1 24
Igda 70
Ihg 48

Characteristics:

HPO:

64
Inheritance: x-linked inheritance
iridogoniodysgenesis, type 1:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 601631

Summaries for Iridogoniodysgenesis, Type 1

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OMIM:52 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 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:70 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 & Phenotypes 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:

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 cerebellar vermis hypoplasia64 rare (5%) HP:0001320
2 enlarged cisterna magna64 rare (5%) HP:0002280
3 glaucoma64 HP:0000501
4 hypoplasia of the iris64 HP:0007676
5 abnormal iris vasculature64 HP:0007905
6 hypoplastic iris stroma64 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 Glaucoma27
2 Iridogoniodysgenesis, Type 124 FOXC1

Anatomical Context for Iridogoniodysgenesis, Type 1

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MalaCards organs/tissues related to Iridogoniodysgenesis, Type 1:

36
Eye

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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet