Premature Aging Syndrome, Penttinen Type (PENTT)

Alias:
Acroosteolysis-Keloid-Like Lesions-Premature Aging Syndrome
Penttinen-Aula Syndrome
Penttinen Syndrome
Pentt
Aging, Premature, Syndrome, Penttinen Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Premature Aging Syndrome, Penttinen Type, also known as acroosteolysis-keloid-like lesions-premature aging syndrome, is related to premature aging and progeroid syndrome. An important gene associated with Premature Aging Syndrome, Penttinen Type is PDGFRB (Platelet Derived Growth Factor Receptor Beta). Affiliated tissues include skin and skeletal muscle, and related phenotypes are prematurely aged appearance and osteolytic defects of the distal phalanges of the hand
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
2
35
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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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

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PMID
Journal
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IF
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