MCID: CNG376
MIFTS: 15

Congenital Leptin Deficiency

Categories: Metabolic diseases

Aliases & Classifications for Congenital Leptin Deficiency

MalaCards integrated aliases for Congenital Leptin Deficiency:

Name: Congenital Leptin Deficiency 25 69
Obesity Due to Congenital Leptin Deficiency 25
Obesity, Morbid, Due to Leptin Deficiency 25
Obesity, Severe, Due to Leptin Deficiency 25
Leptin Deficiency or Dysfunction 69
Obesity, Morbid, Nonsyndromic 1 25
Leptin Deficiency 25
Lepd 25

Classifications:



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 due to congenital leptin deficiency, is related to obesity due to congenital leptin deficiency and obesity, morbid, due to leptin deficiency. 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

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

id Related Disease Score Top Affiliating Genes
1 obesity due to congenital leptin deficiency 12.2
2 obesity, morbid, due to leptin deficiency 11.1
3 obesity 9.8
4 thyroiditis 9.6

Symptoms & Phenotypes for Congenital Leptin Deficiency

Drugs & Therapeutics for Congenital Leptin Deficiency

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Compassionate Use of Metreleptin in Previously Treated People With Partial Lipodystrophy Enrolling by invitation NCT02262806 Phase 3 Metreleptin
2 Effects of Human Leptin Replacement Unknown status NCT00657605 Phase 2 Recombinant methionyl human leptin
3 Effects of Leptin Replacement in Children Unknown status NCT00659828 Phase 2 Recombinant methionyl human leptin
4 Expanded Access Metreleptin Study Active, not recruiting NCT02404896 Phase 2 Metreleptin

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:

39
T Cells, Thyroid, Bone

Publications for Congenital Leptin Deficiency

Articles related to Congenital Leptin Deficiency:

id Title Authors Year
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

ClinVar genetic disease variations for Congenital Leptin Deficiency:

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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