Proprotein Convertase 1/3 Deficiency (PC1 DEFICIENCY)

Alias:
Obesity Due to Prohormone Convertase I Deficiency
Obesity with Impaired Prohormone Processing
Obesity and Endocrinopathy Due to Impaired Processing of Prohormones
Proprotein Convertase 1 3 Deficiency
Pci Deficiency
Endocrinopathy Due to Proprotein Convertase 1/3 Deficiency
Proprotein Convertase 1 Deficiency
Pc1 Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Proprotein Convertase 1/3 Deficiency, also known as obesity due to prohormone convertase i deficiency, is related to central diabetes insipidus and hypothyroidism, and has symptoms including diarrhea An important gene associated with Proprotein Convertase 1/3 Deficiency is PCSK1 (Proprotein Convertase Subtilisin/Kexin Type 1), and among its related pathways/superpathways are Growth hormone receptor signaling and Alstrom syndrome. Affiliated tissues include small intestine and pituitary, and related phenotypes are obesity and increased adipose tissue
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
15
68
9

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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