Xeroderma Pigmentosum, Variant Type (XPV)

Xeroderma Pigmentosum, Variant Type(来自ICD-11)
别称:
Xeroderma Pigmentosum
Xeroderma Pigmentosum Variant Type
Xpv
Xeroderma Pigmentosum with Normal Dna Repair Rates
Photosensitivity with Defective Dna Synthesis
Xeroderma Pigmentosum Variant
Desanctis-Cacchione Syndrome
De Sanctis-Cacchione Syndrome
Xp - [xeroderma Pigmentosum]
Atrophoderma Pigmentosum
Xp
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Xeroderma Pigmentosum, Variant Type, also known as xeroderma pigmentosum, is related to xeroderma pigmentosum, complementation group f and xeroderma pigmentosum, complementation group d. An important gene associated with Xeroderma Pigmentosum, Variant Type is POLH (DNA Polymerase Eta), and among its related pathways/superpathways are Homology Directed Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). The drugs Afamelanotide and Lenalidomide have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are failure to thrive and eeg abnormality
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相关ID:
MESH:C536766
ICD11:1243068849

基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
AR
Adolescent
1-9/100000
147
1333
209

疾病表征

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基因 & 突变

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靶点药物

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疾病模型

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MGI
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文献报道

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