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LEPRD
MCID: LPT006
MIFTS: 41
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Leptin Receptor Deficiency (LEPRD)
Categories:
Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Leptin Receptor Deficiency:
Characteristics:Orphanet epidemiological data:60
obesity due to leptin receptor gene deficiency
Inheritance: Autosomal recessive; OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
onset of severe hyperphagia and rapid weight gain from birth bmi of males begins to decrease with onset of puberty heterozygote lepr deficient individuals have increased fat mass Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Reproductive diseases Endocrine diseases
ICD10:
35
Orphanet: 60
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
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Genetics Home Reference
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26
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 : Leptin Receptor Deficiency, also known as obesity, morbid, due to leptin receptor deficiency, is related to body mass index quantitative trait locus 11 and leptin deficiency or dysfunction. An important gene associated with Leptin Receptor Deficiency is LEPR (Leptin Receptor), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Adipocytokine signaling pathway. The drugs Hormones and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include t cells, pituitary and liver, and related phenotypes are obesity and decreased serum leptin OMIM : 58 Leptin receptor deficiency is characterized by severe early-onset obesity, major hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction (summary by Dehghani et al., 2018). (614963) UniProtKB/Swiss-Prot : 76 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. Wikipedia : 77 Leptin receptor also known as LEP-R or OB-R is a Type I cytokine receptor, a protein that in humans is... more... |
Human phenotypes related to Leptin Receptor Deficiency:60 33 (show all 27)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:614963MGI Mouse Phenotypes related to Leptin Receptor Deficiency:47
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Drugs for Leptin Receptor Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Leptin Receptor Deficiency:42
T Cells,
Pituitary,
Liver,
Ovary,
Bone,
Prostate,
B Cells
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Articles related to Leptin Receptor Deficiency:(show all 18)
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Genes related to Leptin Receptor Deficiency (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Leptin Receptor Deficiency:6 (show top 50) (show all 72)
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Search
GEO
for disease gene expression data for Leptin Receptor Deficiency.
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Pathways related to Leptin Receptor Deficiency according to KEGG:38
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