MCID: IRD007
MIFTS: 21

Iridogoniodysgenesis, Type 1 malady

Genetic diseases, Rare diseases categories

Summaries for Iridogoniodysgenesis, Type 1

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OMIM:45 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.

Aliases & Classifications for Iridogoniodysgenesis, Type 1

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Iridogoniodysgenesis, Type 1, Aliases & Descriptions:

Name: Iridogoniodysgenesis, Type 1 45 10
Iris Hypoplasia and Glaucoma 45 41 22
Iris Hypoplasia with Glaucoma 60
 
Iridogoniodysgenesis Type 1 20
Ihg 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

OMIM45 601631

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

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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Drug clinical trials:

Search ClinicalTrials for Iridogoniodysgenesis, Type 1

Search 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 120 FOXC1
2 Iris Hypoplasia and Glaucoma22

Anatomical Context for Iridogoniodysgenesis, Type 1

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MalaCards organs/tissues related to Iridogoniodysgenesis, Type 1:

31
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:

62
id Symbol AA change Variation ID SNP ID
1FOXC1p.Phe112SerVAR_007815

Clinvar genetic disease variations for Iridogoniodysgenesis, Type 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1FOXC1NM_001453.2(FOXC1): c.889C> T (p.Pro297Ser)single nucleotide variantPathogenicrs79691946GRCh37Chr 6, 1611569: 1611569
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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Compounds for genes affiliated with Iridogoniodysgenesis, Type 1

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GO Terms for genes affiliated with Iridogoniodysgenesis, Type 1

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Products for genes affiliated with Iridogoniodysgenesis, Type 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Iridogoniodysgenesis, Type 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet