Leopard Syndrome 1 (LPRD1)

Alias:
Noonan Syndrome with Multiple Lentigines 1
Lprd1
Lentiginosis, Cardiomyopathic
Multiple Lentigines Syndrome
Leopard Syndrome, Type 1
Multiple Lentigines
Leopard Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Leopard Syndrome 1, also known as noonan syndrome with multiple lentigines 1, is related to noonan syndrome 1 and noonan syndrome with multiple lentigines, and has symptoms including hyposmia An important gene associated with Leopard Syndrome 1 is PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11), and among its related pathways/superpathways is Interleukin-37 signaling. Affiliated tissues include ovary and heart, and related phenotypes are hypertelorism and multiple lentigines
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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10
58
62

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

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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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