MCID: OBS063
MIFTS: 24

Obesity, Morbid, Due to Leptin Deficiency 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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Sources:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 51OMIM, 53Orphanet, 67UMLS, 69UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Obesity, Morbid, Due to Leptin Deficiency 51 12
Leptin Deficiency or Dysfunction 51 69 67
Leptin Deficiency 24 69 26
Obesity Due to Congenital Leptin Deficiency 53 69
Obesity, Severe, Due to Leptin Deficiency 24
 
Morbid Obesity Due to Leptin Deficiency 69
Non-Syndromic Morbid Obesity 1 69
Leptin 12
Lepd 69

Characteristics:

Orphanet epidemiological data:

53
obesity due to congenital leptin deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:



External Ids:

OMIM51 614962
Orphanet53 ORPHA66628
ICD10 via Orphanet30 E66.8
MeSH38 D009767

Summaries for Obesity, Morbid, Due to Leptin Deficiency

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UniProtKB/Swiss-Prot:69 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 obesity, micropenis and hypogonadism. An important gene associated with Obesity, Morbid, Due to Leptin Deficiency is LEP (Leptin). Affiliated tissues include hypothalamus.

Wikipedia:70 Leptin (from Greek λεπτός leptos, \"thin\"), the \"satiety hormone\",[a] is a hormone made by... more...

Description from OMIM:51 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 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:

 63 (show all 10)
id Description HPO Frequency HPO Source Accession
1 obesity63 obligate (100%) HP:0001513
2 micropenis63 HP:0000054
3 hypogonadism63 HP:0000135
4 gynecomastia63 HP:0000771
5 primary amenorrhea63 HP:0000786
6 polyphagia63 HP:0002591
7 recurrent upper respiratory tract infections63 HP:0002788
8 decreased serum leptin63 HP:0003292
9 recurrent pneumonia63 HP:0006532
10 decreased testicular size63 HP:0008734

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 Dysfunction26
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:

35
Hypothalamus

Animal Models for Obesity, Morbid, Due to Leptin Deficiency or affiliated genes

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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:

69
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, FS147TERdeletionPathogenicChr na, -1: -1
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
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