MCID: IRD007
MIFTS: 26

Iridogoniodysgenesis, Type 1 malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Iridogoniodysgenesis, Type 1

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Aliases & Descriptions for Iridogoniodysgenesis, Type 1:

Name: Iridogoniodysgenesis, Type 1 49 11
Iris Hypoplasia and Glaucoma 49 45 24
Iris Hypoplasia with Glaucoma 65
Iridogoniodysgenesis Anomaly 67
 
Iridogoniodysgenesis Type 1 22
Irid1 22
Igda 67
Ihg 45


Classifications:



External Ids:

OMIM49 601631

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 iris hypoplasia and iridogoniodysgenesis, type 2, 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: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 Iridogoniodysgenesis, Dominant Type

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

idRelated DiseaseScoreTop Affiliating Genes
1iris hypoplasia10.2
2iridogoniodysgenesis, type 210.2
3iridogoniodysgenesis type110.2
4primary congenital glaucoma10.2
5axenfeld-rieger syndrome, type 110.1
6interstitial granulomatous dermatitis with arthritis10.1

Graphical network of diseases related to Iridogoniodysgenesis, Type 1:



Diseases related to iridogoniodysgenesis, type 1

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 8)
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 x-linked inheritance HP:0001417
5 hypoplasia of the iris HP:0007676
6 autosomal dominant inheritance HP:0000006
7 abnormal iris vasculature HP:0007905
8 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 Iridogoniodysgenesis, Type 122 FOXC1
2 Iris Hypoplasia and Glaucoma24

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