MCID: OBS062
MIFTS: 28

Obesity, Morbid, Due to Leptin Receptor Deficiency malady

Genetic diseases, Reproductive diseases, Endocrine diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Obesity, Morbid, Due to Leptin Receptor Deficiency

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Sources:
46OMIM, 9diseasecard, 20GeneTests, 21Genetics Home Reference, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Obesity, Morbid, Due to Leptin Receptor Deficiency:

Name: Obesity, Morbid, Due to Leptin Receptor Deficiency 46 9 21
Leptin Receptor Deficiency 46 21 61
Leptin Receptor 9 20 22
Obesity Due to Leptin Receptor Gene Deficiency 21 48
 
Congenital Deficiency of the Leptin Receptor 21
Leptin Receptor-Related Monogenic Obesity 21
Obesity, Morbid, Nonsyndromic 2 21


Classifications:



External Ids:

OMIM46 614963
Orphanet48 179494
ICD10 via Orphanet26 E66.8

Summaries for Obesity, Morbid, Due to Leptin Receptor Deficiency

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Genetics Home Reference:21 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 breast cancer and leukemia, 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 hypothalamus and pituitary.

Description from OMIM:46 614963

Related Diseases for Obesity, Morbid, Due to Leptin Receptor Deficiency

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Graphical network of the top 20 diseases related to Obesity, Morbid, Due to Leptin Receptor Deficiency:



Diseases related to obesity, morbid, due to leptin receptor deficiency

Symptoms for Obesity, Morbid, Due to Leptin Receptor Deficiency

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Clinical features from OMIM:

614963

HPO human phenotypes related to Obesity, Morbid, Due to Leptin Receptor Deficiency:

(show all 9)
id Description Frequency HPO Source Accession
1 aggressive behavior obligate (100%) HP:0000718
2 obesity obligate (100%) HP:0001513
3 abnormal hypothalamus morphology obligate (100%) HP:0012286
4 hypergonadotropic hypogonadism HP:0000815
5 delayed puberty HP:0000823
6 growth hormone deficiency HP:0000824
7 polyphagia HP:0002591
8 immune dysregulation HP:0002958
9 pituitary hypothyroidism HP:0008245

Drugs & Therapeutics for Obesity, Morbid, Due to Leptin Receptor Deficiency

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Drug clinical trials:

Search ClinicalTrials for Obesity, Morbid, Due to Leptin Receptor Deficiency

Search NIH Clinical Center for Obesity, Morbid, Due to Leptin Receptor Deficiency

Genetic Tests for Obesity, Morbid, Due to Leptin Receptor Deficiency

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Genetic tests related to Obesity, Morbid, Due to Leptin Receptor Deficiency:

id Genetic test Affiliating Genes
1 Leptin Receptor Deficiency20 22 LEPR

Anatomical Context for Obesity, Morbid, Due to Leptin Receptor Deficiency

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MalaCards organs/tissues related to Obesity, Morbid, Due to Leptin Receptor Deficiency:

31
Hypothalamus, Pituitary

Animal Models for Obesity, Morbid, Due to Leptin Receptor Deficiency or affiliated genes

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Publications for Obesity, Morbid, Due to Leptin Receptor Deficiency

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Variations for Obesity, Morbid, Due to Leptin Receptor Deficiency

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Clinvar genetic disease variations for Obesity, Morbid, Due to Leptin Receptor Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LEPRLEPR, IVS16, G-A, +1single nucleotide variantPathogenic

Expression for genes affiliated with Obesity, Morbid, Due to Leptin Receptor Deficiency

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Search GEO for disease gene expression data for Obesity, Morbid, Due to Leptin Receptor Deficiency.

Pathways for genes affiliated with Obesity, Morbid, Due to Leptin Receptor Deficiency

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Compounds for genes affiliated with Obesity, Morbid, Due to Leptin Receptor Deficiency

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GO Terms for genes affiliated with Obesity, Morbid, Due to Leptin Receptor Deficiency

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Sources for Obesity, Morbid, Due to Leptin Receptor Deficiency

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet