MCID: OBS062
MIFTS: 25

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 50 24 12
Leptin Receptor Deficiency 50 23 24 68 25 66
Obesity Due to Leptin Receptor Gene Deficiency 24 52
Morbid Obesity Due to Leptin Receptor Deficiency 68
Congenital Deficiency of the Leptin Receptor 24
Leptin Receptor-Related Monogenic Obesity 24
 
Morbid Obesity with Hypogonadism 23
Obesity, Morbid, Nonsyndromic 2 24
Non-Syndromic Morbid Obesity 2 68
Leptin Receptor 12
Leprd 68

Characteristics:

Orphanet epidemiological data:

52
obesity due to leptin receptor gene deficiency:
Inheritance: Autosomal recessive

Classifications:



External Ids:

OMIM50 614963
Orphanet52 ORPHA179494
ICD10 via Orphanet29 E66.8
MeSH37 D009767

Summaries for Obesity, Morbid, Due to Leptin Receptor Deficiency

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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

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
1obesity10.1
2glucose intolerance9.7
3autonomic dysfunction9.7

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 Deficiency25 23 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:

34
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet