Fontaine Progeroid Syndrome (FPS)

Fontaine Progeroid Syndrome(来自ICD-11)
别称:
Gorlin-Chaudhry-Moss Syndrome
Craniofacial Dysostosis, Hypertrichosis, Hypoplasia of Labia Majora, Dental and Eye Anomalies, Patent Ductus Arteriosus, and Normal Intelligence
Gcm Syndrome
Gcms
Dental and Eye Anomalies-Patent Ductus Arteriosus-Normal Intelligence Syndrome
Cranofacial Dysostosis-Hypertrichosis-Hypoplasia of Labia Majora Syndrome
Craniofacial Dysostosis-Genital, Dental, Cardiac Anomalies Syndrome
Progeroid Syndrome, Congenital, Petty Type
Petty-Laxova-Wiedemann Syndrome
Progeroid Syndrome, Petty Type
Gorlin Chaudhry Moss Syndrome
Petty Syndrome
Fps
Craniofacial Dysostosis, Patent Ductus Arteriosus, Hypertrichosis, Hypoplasia of Labia Majora, Dental and Eye Anomalies
Petty Laxova Wiedemann Syndrome
Progeroid Syndrome Petty Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Fontaine Progeroid Syndrome, also known as gorlin-chaudhry-moss syndrome, is related to slc25a24 fontaine progeroid syndrome and platelet disorder, familial, with associated myeloid malignancy. An important gene associated with Fontaine Progeroid Syndrome is SLC25A24 (Solute Carrier Family 25 Member 24). Affiliated tissues include eye and skin, and related phenotypes are failure to thrive and nystagmus
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基础信息

遗传方式
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参考文献
MALACARDS
AR
AD
Newborn
<1/1000000
1
6
16

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靶点药物

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MGI
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