Trichothiodystrophy 2, Photosensitive (TTD2)

Alias:
Ttd2
Photosensitive Trichothiodystrophy 2
Trichothiodystrophy, Type 2, Photosentitive
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Trichothiodystrophy 2, Photosensitive, also known as ttd2, is related to trichothiodystrophy and xeroderma pigmentosum-cockayne syndrome complex. An important gene associated with Trichothiodystrophy 2, Photosensitive is ERCC3 (ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit), and among its related pathways/superpathways are RNA Polymerase I Transcription Termination and Transcription_P53 signaling pathway. Affiliated tissues include testis and skin, and related phenotypes are coarse hair and ichthyosis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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5
38
2

Medical Symptom

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Description
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Gene & Mutation

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No data available

Disease Model

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MGI
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Publications
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References Literature

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