Xeroderma Pigmentosum, Variant Type (XPV)

Alias:
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
Related ID:
MESH:C536766
ICD11:1243068849

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adolescent
<1/1000000
147
1333
209

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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