Cryptophthalmos, Unilateral or Bilateral, Isolated (CRYPTOP)

Alias:
Isolated Cryptophthalmia
Cryptop
Cryptophthalmos with Microphthalmia and Peters Anomaly
Ankyloblepharon, Simple
Unilateral or Bilateral Isolated Cryptophthalmos
Cryptophthalmos, Uni-/bi-Lateral, Isolated
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cryptophthalmos, Unilateral or Bilateral, Isolated, also known as isolated cryptophthalmia, is related to congenital symblepharon and partial cryptophthalmia. An important gene associated with Cryptophthalmos, Unilateral or Bilateral, Isolated is FREM2 (FRAS1 Related Extracellular Matrix 2), and among its related pathways/superpathways are Phospholipase-C Pathway and Development of ureteric collection system. Affiliated tissues include eye and skin, and related phenotypes are glaucoma and microphthalmia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Antenatal
<1/1000000
5
36
6

Medical Symptom

#
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

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
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