MCID: CNG376
MIFTS: 28

Congenital Leptin Deficiency malady

Reproductive diseases, Endocrine diseases, Rare diseases, Metabolic diseases categories

Summaries for Congenital Leptin Deficiency

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Genetics Home Reference:23 Congenital leptin 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. Without treatment, the extreme hunger continues and 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: Congenital Leptin Deficiency, also known as obesity due to congenital leptin deficiency, is related to obesity, morbid, due to leptin deficiency and obesity. An important gene associated with Congenital Leptin Deficiency is LEP (leptin). Affiliated tissues include bone, thyroid and t cells.

Aliases & Classifications for Congenital Leptin Deficiency

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Sources:
23Genetics Home Reference, 49Orphanet, 24GTR, 62UMLS, 28ICD10 via Orphanet
See all sources

Congenital Leptin Deficiency, Aliases & Descriptions:

Name: Congenital Leptin Deficiency 23
Obesity Due to Congenital Leptin Deficiency 23 49
Obesity, Severe, Due to Leptin Deficiency 23 24
Leptin Deficiency 23 62
 
Lepd 23 62
Obesity, Morbid, Due to Leptin Deficiency 23
Obesity, Morbid, Nonsyndromic 1 23


Classifications:



Characteristics (Orphanet epidemiological data):

49
obesity due to congenital leptin deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

Orphanet49 66628
ICD10 via Orphanet28 E66.8

Related Diseases for Congenital Leptin Deficiency

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Diseases related to Congenital Leptin Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1obesity, morbid, due to leptin deficiency10.3
2obesity10.3
3hepatitis10.2
4hypogonadism10.2
5morbid obesity10.2
6thyroiditis10.1
7atherosclerosis10.0
8liver disease10.0
9lateral sclerosis10.0
10acute pancreatitis10.0
11fatty liver disease10.0
12central sleep apnea10.0
13glucose intolerance10.0
14hypogonadotropism10.0
15myocarditis10.0
16pancreatitis10.0
17sleep apnea10.0
18nephritis10.0

Graphical network of diseases related to Congenital Leptin Deficiency:



Diseases related to congenital leptin deficiency

Symptoms for Congenital Leptin Deficiency

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Drugs & Therapeutics for Congenital Leptin Deficiency

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Drug clinical trials:

Search ClinicalTrials for Congenital Leptin Deficiency

Search NIH Clinical Center for Congenital Leptin Deficiency

Genetic Tests for Congenital Leptin Deficiency

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Genetic tests related to Congenital Leptin Deficiency:

id Genetic test Affiliating Genes
1 Obesity, Severe, Due to Leptin Deficiency24

Anatomical Context for Congenital Leptin Deficiency

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MalaCards organs/tissues related to Congenital Leptin Deficiency:

33
Bone, Thyroid, T cells

Animal Models for Congenital Leptin Deficiency or affiliated genes

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Publications for Congenital Leptin Deficiency

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Articles related to Congenital Leptin Deficiency:

idTitleAuthorsYear
1
Congenital leptin deficiency: diagnosis and effects of leptin replacement therapy. (21340154)
2010
2
Congenital leptin deficiency and thyroid function. (19889232)
2009
3
Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy. (15472169)
2004
4
Different presentation of bone mass in mice and humans with congenital leptin deficiency. (11836353)
2002
5
Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency. (12393845)
2002
6
Effects of recombinant leptin therapy in a child with congenital leptin deficiency. (10486419)
1999
7
Congenital leptin deficiency is associated with severe early-onset obesity in humans. (9202122)
1997

Variations for Congenital Leptin Deficiency

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Clinvar genetic disease variations for Congenital Leptin Deficiency:

7
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 Congenital Leptin Deficiency

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Search GEO for disease gene expression data for Congenital Leptin Deficiency.

Pathways for genes affiliated with Congenital Leptin Deficiency

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Compounds for genes affiliated with Congenital Leptin Deficiency

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GO Terms for genes affiliated with Congenital Leptin Deficiency

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Products for genes affiliated with Congenital Leptin Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Congenital Leptin Deficiency

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet