MCID: CNG376
MIFTS: 20

Congenital Leptin Deficiency

Categories: Metabolic diseases

Aliases & Classifications for Congenital Leptin Deficiency

MalaCards integrated aliases for Congenital Leptin Deficiency:

Name: Congenital Leptin Deficiency 25 73
Obesity, Severe, Due to Leptin Deficiency 25 40
Leptin Deficiency 25 37
Obesity Due to Congenital Leptin Deficiency 25
Obesity, Morbid, Due to Leptin Deficiency 25
Leptin Deficiency or Dysfunction 73
Obesity, Morbid, Nonsyndromic 1 25
Leptin Dysfunction 6
Leptin 13
Lepd 25

Classifications:



External Ids:

KEGG 37 H02059

Summaries for Congenital Leptin Deficiency

Genetics Home Reference : 25 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, severe, due to 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), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Adipocytokine signaling pathway. Affiliated tissues include hypothalamus, t cells and thyroid.

Wikipedia : 76 Leptin (from Greek λεπτός leptos, \"thin\"), \"the hormone of energy expenditure\",[a] is a hormone... more...

Related Diseases for Congenital Leptin Deficiency

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

# Related Disease Score Top Affiliating Genes
1 leptin receptor deficiency 12.5
2 obesity due to congenital leptin deficiency 12.4
3 leptin deficiency or dysfunction 11.5
4 thyroiditis 9.7
5 vasculitis 9.7
6 anca-associated vasculitis 9.7

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:

41
Hypothalamus, T Cells, Thyroid, Brain, Bone

Publications for Congenital Leptin Deficiency

Articles related to Congenital Leptin Deficiency:

# Title Authors Year
1
ANCA-associated Vasculitis in a Case of Congenital Leptin Deficiency. ( 29937567 )
2018
2
Leptin Replacement Reestablishes Brain Insulin Action in the Hypothalamus in Congenital Leptin Deficiency. ( 29367426 )
2018
3
Congenital leptin deficiency: diagnosis and effects of leptin replacement therapy. ( 21340154 )
2010
4
Congenital leptin deficiency and thyroid function. ( 19889232 )
2009
5
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
6
Different presentation of bone mass in mice and humans with congenital leptin deficiency. ( 11836353 )
2002
7
Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency. ( 12393845 )
2002
8
Effects of recombinant leptin therapy in a child with congenital leptin deficiency. ( 10486419 )
1999
9
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 NM_000230.2(LEP): c.298G> T (p.Asp100Tyr) single nucleotide variant Pathogenic rs724159998 GRCh38 Chromosome 7, 128254557: 128254557
2 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

Pathways related to Congenital Leptin Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Neuroactive ligand-receptor interaction hsa04080
2 Adipocytokine signaling pathway hsa04920
3 Jak-STAT signaling pathway hsa04630
4 AMPK signaling pathway hsa04152
5 Cytokine-cytokine receptor interaction hsa04060

GO Terms for Congenital Leptin Deficiency

Sources for Congenital Leptin Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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