Xfe Progeroid Syndrome (XFEPS)

Alias:
Xpf-Ercc1 Progeroid Syndrome
Xfeps
Progeroid Syndrome, Xfe
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Xfe Progeroid Syndrome, also known as xpf-ercc1 progeroid syndrome, is related to progeroid syndrome and fanconi anemia, complementation group q. An important gene associated with Xfe Progeroid Syndrome is ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit), and among its related pathways/superpathways are Homology Directed Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include skin and liver, and related phenotypes are failure to thrive and scoliosis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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11
58
2

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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