Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly

Alias:
Urioste Syndrome
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Mullerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Urioste Martinez-Frias Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly, also known as urioste syndrome, is related to lymphangiectasia, intestinal and complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy. Affiliated tissues include skin and uterus, and related phenotypes are high palate and short neck

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
<1/1000000
--
--
3

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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