Fraser Syndrome 1 (FRASRS1)

Alias:
Fraser Syndrome
Cryptophthalmos-Syndactyly Syndrome
Cryptophthalmos with Other Malformations
Cryptophthalmos Syndrome
Frasrs1
Cryptophthalmos
Cryptophthalmos Syndactyly Syndrome
Meyer-Schwickerath Syndrome
Ullrich-Feichtiger Syndrome
Fraser-Francois Syndrome
Fraser's Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Fraser Syndrome 1, also known as fraser syndrome, is related to cryptophthalmos, unilateral or bilateral, isolated and branchiootorenal syndrome. An important gene associated with Fraser Syndrome 1 is FRAS1 (Fraser Extracellular Matrix Complex Subunit 1), and among its related pathways/superpathways are Development of ureteric collection system and Genes controlling nephrogenesis. Affiliated tissues include eye and testes, and related phenotypes are blindness and renal hypoplasia
Related ID:
MESH:D058497
ICD11:968262849

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
1-9/1000000
49
403
45

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
No Data Found!
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