MCID: OBS062
MIFTS: 24

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 51 25 12
Leptin Receptor Deficiency 51 24 25 69 26 67
Obesity Due to Leptin Receptor Gene Deficiency 25 53
Morbid Obesity Due to Leptin Receptor Deficiency 69
Congenital Deficiency of the Leptin Receptor 25
Leptin Receptor-Related Monogenic Obesity 25
 
Morbid Obesity with Hypogonadism 24
Obesity, Morbid, Nonsyndromic 2 25
Non-Syndromic Morbid Obesity 2 69
Leptin Receptor 12
Leprd 69

Characteristics:

Orphanet epidemiological data:

53
obesity due to leptin receptor gene deficiency:
Inheritance: Autosomal recessive

Classifications:



External Ids:

OMIM51 614963
Orphanet53 ORPHA179494
ICD10 via Orphanet30 E66.8
MeSH38 D009767

Summaries for Obesity, Morbid, Due to Leptin Receptor Deficiency

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Genetics Home Reference:25 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 lung cancer and obesity, 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:69 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:51 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
1lung cancer10.4
2obesity10.0
3glucose intolerance9.6
4autonomic dysfunction9.6

Symptoms for Obesity, Morbid, Due to Leptin Receptor Deficiency

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Clinical features from OMIM:

614963

Human phenotypes related to Obesity, Morbid, Due to Leptin Receptor Deficiency:

 63 (show all 9)
id Description HPO Frequency HPO Source Accession
1 aggressive behavior63 obligate (100%) HP:0000718
2 obesity63 obligate (100%) HP:0001513
3 abnormal hypothalamus morphology63 obligate (100%) HP:0012286
4 hypergonadotropic hypogonadism63 HP:0000815
5 delayed puberty63 HP:0000823
6 growth hormone deficiency63 HP:0000824
7 polyphagia63 HP:0002591
8 immune dysregulation63 HP:0002958
9 pituitary hypothyroidism63 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 Deficiency26 24 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:

35
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, +1SNVPathogenicChr na, -1: -1

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet