Yunis-Varon Syndrome (YVS)

Alias:
Cleidocranial Dysplasia with Micrognathia, Absent Thumbs, and Distal Aphalangia
Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome
Yunis Varon Syndrome
Yvs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Yunis-Varon Syndrome, also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia, is related to tooth disease and charcot-marie-tooth disease. An important gene associated with Yunis-Varon Syndrome is FIG4 (FIG4 Phosphoinositide 5-Phosphatase), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and PI Metabolism. Affiliated tissues include bone and heart, and related phenotypes are aplasia of the distal phalanges of the hand and aplasia of the distal phalanx of the hallux
Related ID:
MESH:C536719
ICD11:1696991249

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
25
170
14

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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