Lymphedema-Distichiasis Syndrome (LPHDST)

Alias:
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus
Lymphedema with Distichiasis
Distichiasis-Lymphedema Syndrome
Lphdst
Lymphedema Distichiasis Syndrome
Lymphedema Distichiasis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lymphedema-Distichiasis Syndrome, also known as lymphedema with distichiasis, is related to lymphatic malformation 1 and distichiasis, and has symptoms including photophobia An important gene associated with Lymphedema-Distichiasis Syndrome is FOXC2 (Forkhead Box C2), and among its related pathways/superpathways are Tyrosine Kinases / Adaptors and Heart development. Affiliated tissues include eye and skin, and related phenotypes are photophobia and conjunctivitis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
--
21
191
55

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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