LEPD
MCID: OBS050
MIFTS: 14

Obesity Due to Congenital Leptin Deficiency (LEPD)

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Obesity Due to Congenital Leptin Deficiency

MalaCards integrated aliases for Obesity Due to Congenital Leptin Deficiency:

Name: Obesity Due to Congenital Leptin Deficiency 53
Leptin Deficiency or Dysfunction 53 72
Obesity, Morbid, Nonsyndromic 1 53
Lepd 53

Classifications:



External Ids:

UMLS 72 C3554224

Summaries for Obesity Due to Congenital Leptin Deficiency

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 66628DefinitionCongenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.EpidemiologyIt has been described in less than 30 patients.Clinical descriptionPatients with congenital leptin deficiency are severely hyperphagic from early infancy and, although birthweight is normal, they rapidly become obese during early childhood. An increased susceptibility to infections has also been reported in these infants and appears to be associated with reduced numbers of circulating CD4+ T cells, and impaired T cell proliferation and cytokine release. Other features of the disorder include hyperinsulinaemia, advanced bone age, hypothalamic hypothyroidism and hypogonadotropic hypogonadism leading to a failure to undergo puberty.EtiologyLeptin is an adipocyte-derived hormone that plays an important role in energy balance and appetite suppression. Whilst the majority of obese patients display hyperleptinaemia, patients with congenital leptin deficiency have undetectable levels of leptin in the serum. This absence of serum leptin is caused by homozygous frameshift or missense mutations in the ob gene (7q31.3) and is inherited as an autosomal recessive trait. However, a similar phenotype has been observed in three individuals from one consanguineous family who carried homozygous mutations in the gene encoding the leptin receptor (LEPR, 1p31).Diagnostic methodsFamily history, severe hyperphagia and early-onset obesity may lead to suspicion of a monogenic obesity syndrome. The diagnosis of congenital leptin deficiency can be confirmed by analysis of serum leptin levels or identification of mutations in the ob gene.Management and treatmentCongenital leptin deficiency can be successfully treated with daily subcutaneous injections of recombinant human leptin, resulting in sustained positive effects on weight loss, reducing appetite, appropriate pubertal development and hyperinsulinaemia.PrognosisAs a result, the prognosis for patients undergoing treatment appears to be excellent. However, misdiagnosed patients are at risk of developing the complications normally associated with severe obesity (in particular type 2 diabetes), with the prognosis being hampered further by an increased rate of mortality due to childhood infection.Visit the Orphanet disease page for more resources.

MalaCards based summary : Obesity Due to Congenital Leptin Deficiency, also known as leptin deficiency or dysfunction, is related to leptin deficiency or dysfunction and congenital leptin deficiency. Affiliated tissues include t cells, bone and ovary, and related phenotypes are obesity and decreased serum leptin

Related Diseases for Obesity Due to Congenital Leptin Deficiency

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

# Related Disease Score Top Affiliating Genes
1 leptin deficiency or dysfunction 11.8
2 congenital leptin deficiency 11.6

Symptoms & Phenotypes for Obesity Due to Congenital Leptin Deficiency

Human phenotypes related to Obesity Due to Congenital Leptin Deficiency:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 obesity 32 obligate (100%) HP:0001513
2 decreased serum leptin 32 obligate (100%) HP:0003292
3 primary amenorrhea 32 hallmark (90%) HP:0000786
4 hyperinsulinemia 32 hallmark (90%) HP:0000842
5 hypergonadotropic hypogonadism 32 hallmark (90%) HP:0000815
6 absence of secondary sex characteristics 32 hallmark (90%) HP:0008187
7 decreased testicular size 32 hallmark (90%) HP:0008734
8 decreased serum testosterone level 32 hallmark (90%) HP:0040171
9 decreased proportion of cd4-positive t cells 32 hallmark (90%) HP:0005407
10 gynecomastia 32 hallmark (90%) HP:0000771
11 polyphagia 32 hallmark (90%) HP:0002591
12 decreased serum estradiol 32 hallmark (90%) HP:0008214
13 decreased t cell activation 32 hallmark (90%) HP:0005419
14 hypoplasia of the ovary 32 hallmark (90%) HP:0008724
15 hypertriglyceridemia 32 frequent (33%) HP:0002155
16 recurrent upper respiratory tract infections 32 frequent (33%) HP:0002788
17 accelerated skeletal maturation 32 frequent (33%) HP:0005616
18 insulin-resistant diabetes mellitus 32 frequent (33%) HP:0000831
19 orthostatic hypotension due to autonomic dysfunction 32 frequent (33%) HP:0004926
20 pituitary hypothyroidism 32 frequent (33%) HP:0008245

Drugs & Therapeutics for Obesity Due to Congenital Leptin Deficiency

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

Genetic Tests for Obesity Due to Congenital Leptin Deficiency

Anatomical Context for Obesity Due to Congenital Leptin Deficiency

MalaCards organs/tissues related to Obesity Due to Congenital Leptin Deficiency:

41
T Cells, Bone, Ovary, Pituitary

Publications for Obesity Due to Congenital Leptin Deficiency

Articles related to Obesity Due to Congenital Leptin Deficiency:

# Title Authors PMID Year
1
Early childhood BMI trajectories in monogenic obesity due to leptin, leptin receptor, and melanocortin 4 receptor deficiency. 38
29568105 2018
2
C-Reactive Protein (CRP) and Leptin Receptor in Obesity: Binding of Monomeric CRP to Leptin Receptor. 38
29910808 2018

Variations for Obesity Due to Congenital Leptin Deficiency

Expression for Obesity Due to Congenital Leptin Deficiency

Search GEO for disease gene expression data for Obesity Due to Congenital Leptin Deficiency.

Pathways for Obesity Due to Congenital Leptin Deficiency

GO Terms for Obesity Due to Congenital Leptin Deficiency

Sources for Obesity Due to Congenital Leptin Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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