MCID: OBS063
MIFTS: 23

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:
50OMIM, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 35MedGen, 37MeSH
See all MalaCards sources

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

Name: Obesity, Morbid, Due to Leptin Deficiency 50 12
Leptin Deficiency or Dysfunction 50 68 66
Leptin Deficiency 23 68 25
Obesity Due to Congenital Leptin Deficiency 52 68
Obesity, Severe, Due to Leptin Deficiency 23
 
Morbid Obesity Due to Leptin Deficiency 68
Non-Syndromic Morbid Obesity 1 68
Leptin 12
Lepd 68

Characteristics:

Orphanet epidemiological data:

52
obesity due to congenital leptin deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:



External Ids:

OMIM50 614962
Orphanet52 ORPHA66628
ICD10 via Orphanet29 E66.8
MeSH37 D009767

Summaries for Obesity, Morbid, Due to Leptin Deficiency

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UniProtKB/Swiss-Prot:68 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 congenital leptin deficiency and obesity due to 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).

Description from OMIM:50 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
1congenital leptin deficiency11.4
2obesity due to congenital leptin deficiency11.4

Symptoms for Obesity, Morbid, Due to Leptin Deficiency

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Symptoms by clinical synopsis from OMIM:

614962

Clinical features from OMIM:

614962

HPO human phenotypes related to Obesity, Morbid, Due to Leptin Deficiency:

(show all 10)
id Description Frequency HPO Source Accession
1 obesity obligate (100%) HP:0001513
2 micropenis HP:0000054
3 hypogonadism HP:0000135
4 gynecomastia HP:0000771
5 primary amenorrhea HP:0000786
6 polyphagia HP:0002591
7 recurrent upper respiratory tract infections HP:0002788
8 decreased serum leptin HP:0003292
9 recurrent pneumonia HP:0006532
10 decreased testicular size 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 Dysfunction25
2 Leptin Deficiency23 LEP

Anatomical Context for Obesity, Morbid, Due to Leptin Deficiency

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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:

68
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)single nucleotide variantPathogenicrs104894023GRCh37Chr 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet