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

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

Name: Obesity, Morbid, Due to Leptin Receptor Deficiency 54 25 13
Leptin Receptor Deficiency 54 24 25 66 29 69
Obesity Due to Leptin Receptor Gene Deficiency 25 56
Morbid Obesity Due to Leptin Receptor Deficiency 66
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 66
Leptin Receptor 13
Leprd 66

Characteristics:

Orphanet epidemiological data:

56
obesity due to leptin receptor gene deficiency
Inheritance: Autosomal recessive;

Classifications:



External Ids:

OMIM 54 614963
Orphanet 56 ORPHA179494
ICD10 via Orphanet 34 E66.8
MeSH 42 D009767

Summaries for Obesity, Morbid, Due to Leptin Receptor Deficiency

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 obesity, emotional lability and hypertriglyceridemia. An important gene associated with Obesity, Morbid, Due to Leptin Receptor Deficiency is LEPR (Leptin Receptor). Affiliated tissues include t cells, ovary and pituitary.

UniProtKB/Swiss-Prot : 66 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: 614963

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

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

id Related Disease Score Top Affiliating Genes
1 lung cancer 10.4
2 obesity 10.0
3 glucose intolerance 9.6
4 autonomic dysfunction 9.6

Symptoms & Phenotypes for Obesity, Morbid, Due to Leptin Receptor Deficiency

Clinical features from OMIM:

614963

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

56 32 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 56 32 Obligate (100%) HP:0001513
2 emotional lability 56 32 Frequent (79-30%) HP:0000712
3 hypertriglyceridemia 56 32 Frequent (79-30%) HP:0002155
4 recurrent upper respiratory tract infections 56 32 Frequent (79-30%) HP:0002788
5 primary amenorrhea 56 32 Very frequent (99-80%) HP:0000786
6 hyperinsulinemia 56 32 Very frequent (99-80%) HP:0000842
7 hypergonadotropic hypogonadism 56 32 Very frequent (99-80%) HP:0000815
8 absence of secondary sex characteristics 56 32 Very frequent (99-80%) HP:0008187
9 decreased testicular size 56 32 Very frequent (99-80%) HP:0008734
10 gynecomastia 56 32 Very frequent (99-80%) HP:0000771
11 polyphagia 56 32 Very frequent (99-80%) HP:0002591
12 accelerated skeletal maturation 56 32 Frequent (79-30%) HP:0005616
13 decreased serum estradiol 56 32 Very frequent (99-80%) HP:0008214
14 decreased serum leptin 56 32 Obligate (100%) HP:0003292
15 decreased number of cd4+ t cells 56 32 Very frequent (99-80%) HP:0005407
16 decreased t cell activation 56 32 Very frequent (99-80%) HP:0005419
17 decreased testosterone in males 56 32 Very frequent (99-80%) HP:0008230
18 hypoplasia of the ovary 56 32 Very frequent (99-80%) HP:0008724
19 insulin-resistant diabetes mellitus 56 32 Frequent (79-30%) HP:0000831
20 orthostatic hypotension due to autonomic dysfunction 56 32 Frequent (79-30%) HP:0004926
21 pituitary hypothyroidism 56 32 Frequent (79-30%) HP:0008245
22 delayed puberty 32 HP:0000823
23 aggressive behavior 32 HP:0000718
24 growth hormone deficiency 32 HP:0000824
25 abnormal hypothalamus morphology 32 HP:0012286
26 immune dysregulation 32 HP:0002958

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

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

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

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

id Genetic test Affiliating Genes
1 Leptin Receptor Deficiency 29 24 LEPR

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

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

39
T Cells, Ovary, Pituitary, Hypothalamus

Publications for Obesity, Morbid, Due to Leptin Receptor Deficiency

Variations for Obesity, Morbid, Due to Leptin Receptor Deficiency

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LEPR LEPR, IVS16, G-A, +1 single nucleotide variant Pathogenic

Expression for Obesity, Morbid, Due to Leptin Receptor Deficiency

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

Pathways for Obesity, Morbid, Due to Leptin Receptor Deficiency

GO Terms for Obesity, Morbid, Due to Leptin Receptor Deficiency

Sources for Obesity, Morbid, Due to Leptin Receptor Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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