Fontaine Progeroid Syndrome (FPS)

Fontaine早老综合征(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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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Fontaine Progeroid Syndrome, 又称 gorlin-chaudhry-moss 综合征，与 slc25a24 fontaine progeroid syndrome 和家族性血小板紊乱，伴有骨髓恶性肿瘤有关。与 Fontaine Progeroid Syndrome 有关的重要基因是 SLC25A24 (溶质载体家族25成员24)。附属组织包括眼睛和皮肤，相关表型为发育不良和眼震

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