LEPRD
MCID: OBS062
MIFTS: 27

Obesity, Morbid, Due to Leptin Receptor Deficiency (LEPRD) 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 52 25 12
Leptin Receptor Deficiency 52 24 25 70 27 68
Obesity Due to Leptin Receptor Gene Deficiency 25 54
Morbid Obesity Due to Leptin Receptor Deficiency 70
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 70
Leptin Receptor 12
Leprd 70

Characteristics:

Orphanet epidemiological data:

54
obesity due to leptin receptor gene deficiency:
Inheritance: Autosomal recessive

Classifications:



External Ids:

OMIM52 614963
Orphanet54 ORPHA179494
ICD10 via Orphanet31 E66.8
MeSH39 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 Array, Array and Array. An important gene associated with Obesity, Morbid, Due to Leptin Receptor Deficiency is LEPR (Leptin Receptor). Affiliated tissues include t cells, pituitary and hypothalamus.

UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes 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:

 54 64 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity64 54 Obligate (100%) HP:0001513
2 decreased serum leptin64 54 Obligate (100%) HP:0003292
3 gynecomastia64 54 Very frequent (99-80%) HP:0000771
4 primary amenorrhea64 54 Very frequent (99-80%) HP:0000786
5 hypergonadotropic hypogonadism64 54 Very frequent (99-80%) HP:0000815
6 hyperinsulinemia64 54 Very frequent (99-80%) HP:0000842
7 polyphagia64 54 Very frequent (99-80%) HP:0002591
8 decreased number of cd4+ t cells64 54 Very frequent (99-80%) HP:0005407
9 decreased t cell activation64 54 Very frequent (99-80%) HP:0005419
10 absence of secondary sex characteristics64 54 Very frequent (99-80%) HP:0008187
11 decreased serum estradiol64 54 Very frequent (99-80%) HP:0008214
12 decreased testosterone in males64 54 Very frequent (99-80%) HP:0008230
13 hypoplasia of the ovary64 54 Very frequent (99-80%) HP:0008724
14 decreased testicular size64 54 Very frequent (99-80%) HP:0008734
15 emotional lability64 54 Frequent (79-30%) HP:0000712
16 insulin-resistant diabetes mellitus64 54 Frequent (79-30%) HP:0000831
17 hypertriglyceridemia64 54 Frequent (79-30%) HP:0002155
18 recurrent upper respiratory tract infections64 54 Frequent (79-30%) HP:0002788
19 orthostatic hypotension due to autonomic dysfunction64 54 Frequent (79-30%) HP:0004926
20 accelerated skeletal maturation64 54 Frequent (79-30%) HP:0005616
21 pituitary hypothyroidism64 54 Frequent (79-30%) HP:0008245
22 aggressive behavior64 HP:0000718
23 delayed puberty64 HP:0000823
24 growth hormone deficiency64 HP:0000824
25 immune dysregulation64 HP:0002958
26 abnormal hypothalamus morphology64 HP:0012286

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 Deficiency27 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:

36
T cells, Pituitary, Hypothalamus, Ovary

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, +1SNVPathogenic

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet