Obesity, Morbid, Due to Leptin Receptor Deficiency malady
Categories: Genetic diseases, Reproductive diseases, Endocrine diseases, Rare diseases, Metabolic diseases
Aliases & Descriptions for Obesity, Morbid, Due to Leptin Receptor Deficiency:
Orphanet epidemiological data:52
obesity due to leptin receptor gene deficiency:
Inheritance: Autosomal recessive
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Reproductive diseases, Endocrine diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Genetics Home Reference:24 Leptin receptor deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. The extreme hunger leads to chronic excessive eating (hyperphagia) and obesity. Beginning in early childhood, affected individuals develop abnormal eating behaviors such as fighting with other children over food, hoarding food, and eating in secret.
MalaCards based summary: Obesity, Morbid, Due to Leptin Receptor Deficiency, also known as leptin receptor deficiency, is related to obesity and glucose intolerance, and has symptoms including aggressive behavior, obesity and abnormal hypothalamus morphology. An important gene associated with Obesity, Morbid, Due to Leptin Receptor Deficiency is LEPR (Leptin Receptor). Affiliated tissues include pituitary and hypothalamus.
UniProtKB/Swiss-Prot:68 Leptin receptor deficiency: A rare disease characterized by normal levels of serum leptin, hyperphagia and severe obesity from an early age. Additional features include alterations in immune function, and delayed puberty due to hypogonadotropic hypogonadism.
Description from OMIM:50 614963
Diseases related to Obesity, Morbid, Due to Leptin Receptor Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:
Clinical features from OMIM:614963
HPO human phenotypes related to Obesity, Morbid, Due to Leptin Receptor Deficiency:(show all 9)
MalaCards organs/tissues related to Obesity, Morbid, Due to Leptin Receptor Deficiency:34
Clinvar genetic disease variations for Obesity, Morbid, Due to Leptin Receptor Deficiency:5
Search GEO for disease gene expression data for Obesity, Morbid, Due to Leptin Receptor Deficiency.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet