KEGG   DISEASE: Leptin deficiency
Entry
H02059                      Disease                                
Name
Leptin deficiency
  Supergrp
Genetic obesity [DS:H02106]
Description
Congenital leptin deficiency (LEPD) is a rare human genetic syndrome resulting in severe hyperphagia and early-onset obesity. Beneficial effects of leptin replacement therapy in this condition have been reported.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Nutritional disorders
   Overweight, obesity or specific nutrient excesses
    Overweight or obesity
     5B81  Obesity
      H02059  Leptin deficiency
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06518  JAK-STAT signaling
   H02059  Leptin deficiency
 Endocrine system
  nt06325  Hormone/cytokine signaling
   H02059  Leptin deficiency
Pathway
hsa04080  Neuroactive ligand-receptor interaction
hsa04920  Adipocytokine signaling pathway
hsa04630  JAK-STAT signaling pathway
hsa04152  AMPK signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
Network
nt06325 Hormone/cytokine signaling
nt06518 JAK-STAT signaling
Gene
LEP [HSA:3952] [KO:K05424]
Other DBs
ICD-11: 5B81.Y
ICD-10: E66.8
OMIM: 614962
Reference
PMID:9202122
  Authors
Montague CT, Farooqi IS, Whitehead JP, Soos MA, Rau H, Wareham NJ, Sewter CP, Digby JE, Mohammed SN, Hurst JA, Cheetham CH, Earley AR, Barnett AH, Prins JB, O'Rahilly S
  Title
Congenital leptin deficiency is associated with severe early-onset obesity in humans.
  Journal
Nature 387:903-8 (1997)
DOI:10.1038/43185
Reference
PMID:15472169 (LEP)
  Authors
Gibson WT, Farooqi IS, Moreau M, DePaoli AM, Lawrence E, O'Rahilly S, Trussell RA
  Title
Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy.
  Journal
J Clin Endocrinol Metab 89:4821-6 (2004)
DOI:10.1210/jc.2004-0376

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Network (3)   
   KEGG NETWORK (2)   
   KEGG VARIANT (1)   
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (8)   

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