MCID: CNG376
MIFTS: 26

Congenital Leptin Deficiency

Categories: Metabolic diseases

Aliases & Classifications for Congenital Leptin Deficiency

MalaCards integrated aliases for Congenital Leptin Deficiency:

Name: Congenital Leptin Deficiency 26 74
Obesity, Severe, Due to Leptin Deficiency 26 41
Leptin Deficiency 26 38
Leptin 13 17
Obesity Due to Congenital Leptin Deficiency 26
Obesity, Morbid, Due to Leptin Deficiency 26
Leptin Deficiency or Dysfunction 74
Obesity, Morbid, Nonsyndromic 1 26
Leptin Dysfunction 6
Lepd 26

Classifications:



External Ids:

KEGG 38 H02059

Summaries for Congenital Leptin Deficiency

Genetics Home Reference : 26 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 thyroid, bone and hypothalamus.

Wikipedia : 77 Leptin (from Greek λεπτός leptos, "thin") is a hormone predominantly made by adipose cells and the small... more...

Related Diseases for Congenital Leptin Deficiency

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

(show top 50) (show all 531)
# Related Disease Score Top Affiliating Genes
1 leptin receptor deficiency 12.7
2 obesity due to congenital leptin deficiency 12.5
3 leptin, serum level of, quantitative trait locus 1 12.4
4 obesity due to congenital leptin resistance 12.1
5 leptin deficiency or dysfunction 11.7
6 congenital generalized lipodystrophy 11.4
7 genetic non-syndromic obesity 11.1
8 rheumatoid arthritis 10.8
9 lung cancer 10.7
10 acute myocardial infarction 10.6
11 breast cancer 10.6
12 ischemic heart disease 10.6
13 body mass index quantitative trait locus 1 10.5
14 anorexia nervosa 10.5
15 polycystic ovary syndrome 10.5
16 insulin-like growth factor i 10.4
17 pre-eclampsia 10.4
18 gestational diabetes 10.3
19 hypoxia 10.3
20 arthritis 10.3
21 leukemia 10.3
22 eclampsia 10.3
23 retinoblastoma 10.3
24 osteoarthritis 10.2
25 kidney disease 10.2
26 prostate cancer 10.2
27 asthma 10.2
28 chronic kidney failure 10.2
29 arteries, anomalies of 10.2
30 schizophrenia 10.2
31 prostate cancer, hereditary, 8 10.2
32 prostate cancer, hereditary, 6 10.2
33 heart disease 10.2
34 endometriosis 10.2
35 apnea, obstructive sleep 10.2
36 systemic lupus erythematosus 10.2
37 endometrial cancer 10.2
38 coronary artery anomaly 10.2
39 lupus erythematosus 10.2
40 pulmonary disease, chronic obstructive 10.2
41 liver cirrhosis 10.2
42 eating disorder 10.2
43 multiple sclerosis 10.2
44 hypertension, essential 10.2
45 osteoporosis 10.2
46 ovarian cancer 10.2
47 bulimia nervosa 10.2
48 hypothyroidism 10.2
49 hepatitis c 10.2
50 adenocarcinoma 10.2

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:

42
Thyroid, Bone, Hypothalamus, Liver, Heart, Prostate, Small Intestine

Publications for Congenital Leptin Deficiency

Articles related to Congenital Leptin Deficiency:

(show all 11)
# Title Authors Year
1
Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity. ( 31067764 )
2019
2
ANCA-associated Vasculitis in a Case of Congenital Leptin Deficiency. ( 29937567 )
2018
3
Leptin Replacement Reestablishes Brain Insulin Action in the Hypothalamus in Congenital Leptin Deficiency. ( 29367426 )
2018
4
Biologically inactive leptin and early-onset extreme obesity. ( 25551525 )
2015
5
Congenital leptin deficiency: diagnosis and effects of leptin replacement therapy. ( 21340154 )
2010
6
Congenital leptin deficiency and thyroid function. ( 19889232 )
2009
7
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
8
Different presentation of bone mass in mice and humans with congenital leptin deficiency. ( 11836353 )
2002
9
Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency. ( 12393845 )
2002
10
Effects of recombinant leptin therapy in a child with congenital leptin deficiency. ( 10486419 )
1999
11
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 GRCh37 Chromosome 7, 127894610: 127894610
2 LEP NM_000230.2(LEP): c.298G> T (p.Asp100Tyr) single nucleotide variant Pathogenic rs724159998 GRCh38 Chromosome 7, 128254557: 128254557

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:

38
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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