Poland Syndrome

Alias:
Poland Anomaly
Poland Sequence
Poland Syndactyly
Unilateral Defect of Pectoralis Major and Syndactyly of the Hand
Poland's Syndactyly
Poland's Syndrome
Poland's Anomaly
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Poland Syndrome, also known as poland anomaly, is related to chromosome 2q35 duplication syndrome and craniofrontonasal dysplasia-poland anomaly syndrome. An important gene associated with Poland Syndrome is PLAAT2 (Phospholipase A And Acyltransferase 2), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and Acyl chain remodelling of PE. Affiliated tissues include breast and bone, and related phenotypes are aplasia/hypoplasia of the nipples and aplasia of the pectoralis major muscle
Related ID:
MESH:D011045
ICD11:1364451323

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
1-9/100000
14
97
41

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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