MCID: OBS062
MIFTS: 26

Obesity, Morbid, Due to Leptin Receptor Deficiency malady

Categories: Genetic diseases, Reproductive diseases, Endocrine diseases, Rare diseases, Metabolic diseases

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

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

Name: Obesity, Morbid, Due to Leptin Receptor Deficiency 49 11 23
Leptin Receptor Deficiency 22 23 67 24 65
Obesity Due to Leptin Receptor Gene Deficiency 23 51
Morbid Obesity Due to Leptin Receptor Deficiency 67
Congenital Deficiency of the Leptin Receptor 23
 
Leptin Receptor-Related Monogenic Obesity 23
Morbid Obesity with Hypogonadism 22
Obesity, Morbid, Nonsyndromic 2 23
Non-Syndromic Morbid Obesity 2 67
Leprd 67

Classifications:



External Ids:

OMIM49 614963
Orphanet51 179494
ICD10 via Orphanet28 E66.8
MeSH36 D009767
UMLS65 C3554225

Summaries for Obesity, Morbid, Due to Leptin Receptor Deficiency

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Genetics Home Reference:23 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 alport syndrome and prostatic hypertrophy, 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:67 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:49 614963

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

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Diseases related to Obesity, Morbid, Due to Leptin Receptor Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1alport syndrome9.9
2prostatic hypertrophy9.9
3nephrotic syndrome9.9
4prostatitis9.9
5giant cell tumor9.9
6leiomyomatosis9.9
7thyrotoxic periodic paralysis9.9

Graphical network of 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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Interventional clinical trials:

Search ClinicalTrials, 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 Deficiency22 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:

33
Pituitary, Hypothalamus

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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet