Leptin Deficiency or Dysfunction (LEPD)

Alias:
Obesity Due to Congenital Leptin Deficiency
Morbid Obesity
Congenital Leptin Deficiency
Lepd
Obesity, Morbid
Obesity, Morbid, Due to Leptin Deficiency
Obesity, Severe, Due to Leptin Deficiency
Leptin Deficiency
Severe Obesity
Morbid Obesity Due to Leptin Deficiency
Obesity, Morbid, Nonsyndromic 1
Leptin Dysfunction
Obesity Morbid
Leptin
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
Leptin Deficiency or Dysfunction, also known as obesity due to congenital leptin deficiency, is related to prader-willi syndrome and metabolic dysfunction-associated steatotic liver disease, and has symptoms including obesity, metabolically benign An important gene associated with Leptin Deficiency or Dysfunction is LEP (Leptin), and among its related pathways/superpathways are GPCR downstream signalling and Signal Transduction. The drugs Clomifene and Octreotide have been mentioned in the context of this disorder. Affiliated tissues include adipocyte and liver, and related phenotypes are obesity and decreased serum leptin.
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
<1/1000000
76
1037
36

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
No Data Found!
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