Anterior Segment Dysgenesis 4 (ASGD4)

Alias:
Iridogoniodysgenesis Syndrome
Iridogoniodysgenesis, Type 2
Iris Hypoplasia with Early-Onset Glaucoma, Autosomal Dominant
Iridogoniodysgenesis Type 2
Asgd4
Irid2
Igds
Ihga
Iridogoniodysgenesis Syndrome 2
Iridogoniodysgenesis, Type 1
Iridogoniodysgenesis Type 1
Irid 1
Irid 2
Igds2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Anterior Segment Dysgenesis 4, also known as iridogoniodysgenesis syndrome, is related to anterior segment dysgenesis 3 and interstitial granulomatous dermatitis with arthritis. An important gene associated with Anterior Segment Dysgenesis 4 is PITX2 (Paired Like Homeodomain 2), and among its related pathways/superpathways are Metabolism of proteins and Post-translational modification: synthesis of GPI-anchored proteins. Affiliated tissues include eye and bone marrow, and related phenotypes are abnormality of the dentition and glaucoma
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
17
85
37

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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