Fontaine Progeroid Syndrome (FPS)

Alias:
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
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
<1/1000000
1
6
16

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
No Data Found!
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