Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked (PDR)

Alias:
Xlpdr
Pdr
Pigmentary Disorder, Reticulate, with Systemic Manifestations
X-Linked Reticulate Pigmentary Disorder
Familial Lichen Amyloidosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked, also known as xlpdr, is related to primary cutaneous amyloidosis and partington syndrome, and has symptoms including diarrhea and photophobia. An important gene associated with Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked is POLA1 (DNA Polymerase Alpha 1, Catalytic Subunit). Affiliated tissues include skin, and related phenotypes are photophobia and failure to thrive in infancy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Unknown
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1
3
8

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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CAS Number
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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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