LEPD
MCID: OBS063
MIFTS: 27

Obesity, Morbid, Due to Leptin Deficiency (LEPD) malady

Categories: Genetic diseases, Reproductive diseases, Endocrine diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Obesity, Morbid, Due to Leptin Deficiency

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

Name: Obesity, Morbid, Due to Leptin Deficiency 52 12
Leptin Deficiency or Dysfunction 52 70 68
Leptin Deficiency 24 70 27
Obesity Due to Congenital Leptin Deficiency 54 70
Obesity, Severe, Due to Leptin Deficiency 24
 
Morbid Obesity Due to Leptin Deficiency 70
Non-Syndromic Morbid Obesity 1 70
Leptin 12
Lepd 70

Characteristics:

Orphanet epidemiological data:

54
obesity due to congenital leptin deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64
obesity, morbid, due to leptin deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 614962
Orphanet54 ORPHA66628
ICD10 via Orphanet31 E66.8
MeSH39 D009767

Summaries for Obesity, Morbid, Due to Leptin Deficiency

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UniProtKB/Swiss-Prot:70 Leptin deficiency: A rare disease characterized by low levels of serum leptin, severe hyperphagia and intractable obesity from an early age.

MalaCards based summary: Obesity, Morbid, Due to Leptin Deficiency, also known as leptin deficiency or dysfunction, is related to obesity, morbid, due to leptin receptor deficiency and congenital leptin deficiency, and has symptoms including Array, Array and Array. An important gene associated with Obesity, Morbid, Due to Leptin Deficiency is LEP (Leptin). Affiliated tissues include hypothalamus, t cells and pituitary.

Wikipedia:71 Leptin (from Greek λεπτός leptos, \"thin\"), the \"satiety hormone\",[a] is a hormone... more...

Description from OMIM:52 614962

Related Diseases for Obesity, Morbid, Due to Leptin Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1obesity, morbid, due to leptin receptor deficiency12.3
2congenital leptin deficiency11.3
3obesity due to congenital leptin deficiency11.3

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

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Symptoms by clinical synopsis from OMIM:

614962

Clinical features from OMIM:

614962

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

 54 64 (show all 23)
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 hypogonadism54 Very frequent (99-80%)
6 hyperinsulinemia54 Very frequent (99-80%)
7 polyphagia64 54 Very frequent (99-80%) HP:0002591
8 decreased number of cd4+ t cells54 Very frequent (99-80%)
9 decreased t cell activation54 Very frequent (99-80%)
10 absence of secondary sex characteristics54 Very frequent (99-80%)
11 decreased serum estradiol54 Very frequent (99-80%)
12 decreased testosterone in males54 Very frequent (99-80%)
13 hypoplasia of the ovary54 Very frequent (99-80%)
14 decreased testicular size64 54 Very frequent (99-80%) HP:0008734
15 insulin-resistant diabetes mellitus54 Frequent (79-30%)
16 hypertriglyceridemia54 Frequent (79-30%)
17 recurrent upper respiratory tract infections64 54 Frequent (79-30%) HP:0002788
18 orthostatic hypotension due to autonomic dysfunction54 Frequent (79-30%)
19 accelerated skeletal maturation54 Frequent (79-30%)
20 pituitary hypothyroidism54 Frequent (79-30%)
21 micropenis64 HP:0000054
22 hypogonadism64 HP:0000135
23 recurrent pneumonia64 HP:0006532

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

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Interventional clinical trials:

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

Genetic Tests for Obesity, Morbid, Due to Leptin Deficiency

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

id Genetic test Affiliating Genes
1 Leptin Deficiency or Dysfunction27
2 Leptin Deficiency24 LEP

Anatomical Context for Obesity, Morbid, Due to Leptin Deficiency

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

36
Hypothalamus, T cells, Pituitary, Ovary

Publications for Obesity, Morbid, Due to Leptin Deficiency

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Variations for Obesity, Morbid, Due to Leptin Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Obesity, Morbid, Due to Leptin Deficiency:

70
id Symbol AA change Variation ID SNP ID
1LEPp.Arg105TrpVAR_008094rs104894023
2LEPp.Asp100TyrVAR_075144rs724159998

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1LEPLEP, 1-BP DEL, FS147TERdeletionPathogenic
2LEPNM_ 000230.2(LEP): c.313C> T (p.Arg105Trp)SNVPathogenicrs104894023GRCh37Chr 7, 127894625: 127894625

Expression for genes affiliated with Obesity, Morbid, Due to Leptin Deficiency

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

Pathways for genes affiliated with Obesity, Morbid, Due to Leptin Deficiency

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GO Terms for genes affiliated with Obesity, Morbid, Due to Leptin Deficiency

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Sources for Obesity, Morbid, Due to Leptin 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