KEGG   DISEASE: Leptin receptor deficiency
Entry
H02060                      Disease                                
Name
Leptin receptor deficiency
  Supergrp
Genetic obesity [DS:H02106]
Description
Leptin receptor deficiency (LEPRD) is an autosomal recessive condition that causes severe early-onset obesity and pituitary dysfunction. Mutations in LEPR gene encoding leptin receptor cause this disease.
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
      H02060  Leptin receptor deficiency
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06518  JAK-STAT signaling
   H02060  Leptin receptor deficiency
 Endocrine system
  nt06325  Hormone/cytokine signaling
   H02060  Leptin receptor 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
LEPR [HSA:3953] [KO:K05062]
Drug
Setmelanotide acetate [DR:D11928]
Other DBs
ICD-11: 5B81.Y
ICD-10: E66.8
OMIM: 614963
Reference
PMID:17229951
  Authors
Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, Lank E, Bottomley B, Lopez-Fernandez J, Ferraz-Amaro I, Dattani MT, Ercan O, Myhre AG, Retterstol L, Stanhope R, Edge JA, McKenzie S, Lessan N, Ghodsi M, De Rosa V, Perna F, Fontana S, Barroso I, Undlien DE, O'Rahilly S
  Title
Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.
  Journal
N Engl J Med 356:237-47 (2007)
DOI:10.1056/NEJMoa063988
Reference
PMID:9537324 (LEPR)
  Authors
Clement K, Vaisse C, Lahlou N, Cabrol S, Pelloux V, Cassuto D, Gourmelen M, Dina C, Chambaz J, Lacorte JM, Basdevant A, Bougneres P, Lebouc Y, Froguel P, Guy-Grand B
  Title
A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction.
  Journal
Nature 392:398-401 (1998)
DOI:10.1038/32911
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