MCID: CNG376
MIFTS: 20

Congenital Leptin Deficiency malady

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

Aliases & Classifications for Congenital Leptin Deficiency

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Sources:
23Genetics Home Reference, 65UMLS, 51Orphanet, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Congenital Leptin Deficiency:

Name: Congenital Leptin Deficiency 23
Obesity Due to Congenital Leptin Deficiency 23 51
Leptin Deficiency 23 65
Obesity, Morbid, Due to Leptin Deficiency 23
 
Obesity, Severe, Due to Leptin Deficiency 23
Obesity, Morbid, Nonsyndromic 1 23
Lepd 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
obesity due to congenital leptin deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

Orphanet51 66628
ICD10 via Orphanet28 E66.8

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 leptin deficiency and obesity. An important gene associated with Congenital Leptin Deficiency is LEP (Leptin). Affiliated tissues include t cells, thyroid and bone.

Related Diseases for Congenital Leptin Deficiency

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

(show all 20)
idRelated DiseaseScoreTop Affiliating Genes
1leptin deficiency10.5
2obesity10.3
3hepatitis10.2
4hypogonadism10.2
5morbid obesity10.2
6obesity, morbid, due to leptin deficiency10.1
7thyroiditis10.1
8atherosclerosis10.0
9liver disease10.0
10acute pancreatitis10.0
11central sleep apnea10.0
12lateral sclerosis10.0
13glucose intolerance10.0
14fatty liver disease10.0
15hypogonadotropism10.0
16lipodystrophy10.0
17myocarditis10.0
18pancreatitis10.0
19sleep apnea10.0
20acquired generalized lipodystrophy10.0

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Compassionate Use of Metreleptin in Previously Treated People With Partial LipodystrophyEnrolling by invitationNCT02262806Phase 3
2Effects of Human Leptin ReplacementActive, not recruitingNCT00657605Phase 2
3Effects of Leptin Replacement in ChildrenActive, not recruitingNCT00659828Phase 2
4Expanded Access Metreleptin StudyEnrolling by invitationNCT02404896Phase 2

Search NIH Clinical Center for Congenital Leptin Deficiency

Genetic Tests for Congenital Leptin Deficiency

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Anatomical Context for Congenital Leptin Deficiency

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MalaCards organs/tissues related to Congenital Leptin Deficiency:

33
T cells, Thyroid, Bone

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:

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 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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GO Terms for genes affiliated with Congenital Leptin Deficiency

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Sources for Congenital Leptin Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet