MCID: CNG376
MIFTS: 21

Congenital Leptin Deficiency

Categories: Metabolic diseases

Aliases & Classifications for Congenital Leptin Deficiency

MalaCards integrated aliases for Congenital Leptin Deficiency:

Name: Congenital Leptin Deficiency 24 69
Obesity Due to Congenital Leptin Deficiency 24
Obesity, Morbid, Due to Leptin Deficiency 24
Obesity, Severe, Due to Leptin Deficiency 24
Leptin Deficiency or Dysfunction 69
Obesity, Morbid, Nonsyndromic 1 24
Leptin Deficiency 24
Leptin 13
Lepd 24

Classifications:



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Summaries for Congenital Leptin Deficiency

Genetics Home Reference : 24 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 receptor deficiency and obesity due to congenital leptin deficiency. An important gene associated with Congenital Leptin Deficiency is LEP (Leptin). Affiliated tissues include hypothalamus, t cells and thyroid.

Wikipedia : 72 Leptin (from Greek λεπτός leptos, \"thin\"), “the hormone of energy expenditure”,[a] is a hormone... more...

Related Diseases for Congenital Leptin Deficiency

Graphical network of the top 20 diseases related to Congenital Leptin Deficiency:



Diseases related to Congenital Leptin Deficiency

Symptoms & Phenotypes for Congenital Leptin Deficiency

Drugs & Therapeutics for Congenital Leptin Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Human Leptin Replacement Unknown status NCT00657605 Phase 2 Recombinant methionyl human leptin
2 Effects of Leptin Replacement in Children Unknown status NCT00659828 Phase 2 Recombinant methionyl human leptin

Search NIH Clinical Center for Congenital Leptin Deficiency

Genetic Tests for Congenital Leptin Deficiency

Anatomical Context for Congenital Leptin Deficiency

MalaCards organs/tissues related to Congenital Leptin Deficiency:

38
Hypothalamus, T Cells, Thyroid, Brain, Bone

Publications for Congenital Leptin Deficiency

Articles related to Congenital Leptin Deficiency:

# Title Authors Year
1
Leptin Replacement Reestablishes Brain Insulin Action in the Hypothalamus in Congenital Leptin Deficiency. ( 29367426 )
2018
2
Congenital leptin deficiency: diagnosis and effects of leptin replacement therapy. ( 21340154 )
2010
3
Congenital leptin deficiency and thyroid function. ( 19889232 )
2009
4
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
5
Different presentation of bone mass in mice and humans with congenital leptin deficiency. ( 11836353 )
2002
6
Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency. ( 12393845 )
2002
7
Effects of recombinant leptin therapy in a child with congenital leptin deficiency. ( 10486419 )
1999
8
Congenital leptin deficiency is associated with severe early-onset obesity in humans. ( 9202122 )
1997

Variations for Congenital Leptin Deficiency

ClinVar genetic disease variations for Congenital Leptin Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LEP LEP, 1-BP DEL, FS147TER deletion Pathogenic
2 LEP NM_000230.2(LEP): c.313C> T (p.Arg105Trp) single nucleotide variant Pathogenic rs104894023 GRCh37 Chromosome 7, 127894625: 127894625
3 LEP NM_000230.2(LEP): c.298G> T (p.Asp100Tyr) single nucleotide variant Pathogenic rs724159998 GRCh37 Chromosome 7, 127894610: 127894610

Expression for Congenital Leptin Deficiency

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

Pathways for Congenital Leptin Deficiency

GO Terms for Congenital Leptin Deficiency

Sources for Congenital Leptin Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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