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  • CN069970 has been replaced by C3554224, showing C3554224

Leptin deficiency or dysfunction(LEPD)

MedGen UID:
767138
Concept ID:
C3554224
Disease or Syndrome
Synonyms: LEPD; Leptin Deficiency; OBESITY, MORBID, NONSYNDROMIC 1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): LEP (7q32.1)
OMIM®: 614962
Orphanet: ORPHA66628

Definition

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.People with congenital leptin deficiency also have hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development. Without treatment, affected individuals experience delayed puberty or do not go through puberty, and may be unable to conceive children (infertile). [from GHR]

Clinical features

Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.(AE)
Recurrent upper respiratory tract infections
MedGen UID:
154380
Concept ID:
C0581381
Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Gynecomastia
MedGen UID:
6694
Concept ID:
C0018418
Disease or Syndrome
Abnormal development of large mammary glands in males resulting in breast enlargement.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Leptin deficiency or dysfunction in Orphanet.

Recent clinical studies

Etiology

Paz-Filho GJ
Neural Plast 2016;2016:8528934. Epub 2016 Jan 3 doi: 10.1155/2016/8528934. PMID: 26881138Free PMC Article
Calderón-Garcidueñas L, Franco-Lira M, D'Angiulli A, Rodríguez-Díaz J, Blaurock-Busch E, Busch Y, Chao CK, Thompson C, Mukherjee PS, Torres-Jardón R, Perry G
Environ Res 2015 Jul;140:579-92. Epub 2015 Jun 1 doi: 10.1016/j.envres.2015.05.012. PMID: 26037109
Johnston JM, Hu WT, Fardo DW, Greco SJ, Perry G, Montine TJ, Trojanowski JQ, Shaw LM, Ashford JW, Tezapsidis N; Alzheimer’s Disease Neuroimaging Initiative.
Curr Alzheimer Res 2014 Feb;11(2):165-74. PMID: 24359504Free PMC Article
Frank S, Heni M, Moss A, von Schnurbein J, Farooqi S, Häring HU, Fritsche A, Preissl H, Wabitsch M
PLoS One 2013;8(6):e65893. Epub 2013 Jun 14 doi: 10.1371/journal.pone.0065893. PMID: 23799059Free PMC Article
Berman SM, Paz-Filho G, Wong ML, Kohno M, Licinio J, London ED
Cerebellum 2013 Feb;12(1):59-67. doi: 10.1007/s12311-012-0360-z. PMID: 22576622Free PMC Article

Diagnosis

Ishii M, Wang G, Racchumi G, Dyke JP, Iadecola C
J Neurosci 2014 Jul 2;34(27):9096-106. doi: 10.1523/JNEUROSCI.0872-14.2014. PMID: 24990930Free PMC Article
Johnston JM, Hu WT, Fardo DW, Greco SJ, Perry G, Montine TJ, Trojanowski JQ, Shaw LM, Ashford JW, Tezapsidis N; Alzheimer’s Disease Neuroimaging Initiative.
Curr Alzheimer Res 2014 Feb;11(2):165-74. PMID: 24359504Free PMC Article
Cundrle I Jr, Somers VK, Singh P, Johnson BD, Scott CG, Olson LJ
J Card Fail 2013 Nov;19(11):756-61. Epub 2013 Oct 18 doi: 10.1016/j.cardfail.2013.10.004. PMID: 24263120Free PMC Article
Kleinridders A, Lauritzen HP, Ussar S, Christensen JH, Mori MA, Bross P, Kahn CR
J Clin Invest 2013 Nov;123(11):4667-80. doi: 10.1172/JCI67615. PMID: 24084737Free PMC Article
Frank S, Heni M, Moss A, von Schnurbein J, Farooqi S, Häring HU, Fritsche A, Preissl H, Wabitsch M
PLoS One 2013;8(6):e65893. Epub 2013 Jun 14 doi: 10.1371/journal.pone.0065893. PMID: 23799059Free PMC Article

Therapy

Meehan CA, Cochran E, Kassai A, Brown RJ, Gorden P
Expert Rev Clin Pharmacol 2016;9(1):59-68. Epub 2015 Oct 14 doi: 10.1586/17512433.2016.1096772. PMID: 26465174Free PMC Article
Chou SH, Mantzoros C
J Endocrinol 2014 Oct;223(1):T49-62. Epub 2014 Jul 23 doi: 10.1530/JOE-14-0245. PMID: 25056118
Berman SM, Paz-Filho G, Wong ML, Kohno M, Licinio J, London ED
Cerebellum 2013 Feb;12(1):59-67. doi: 10.1007/s12311-012-0360-z. PMID: 22576622Free PMC Article
von Schnurbein J, Moss A, Nagel SA, Muehleder H, Debatin KM, Farooqi IS, Wabitsch M
Horm Res Paediatr 2012;77(2):127-33. Epub 2012 Feb 14 doi: 10.1159/000336003. PMID: 22343341
Blüher S, Shah S, Mantzoros CS
J Investig Med 2009 Oct;57(7):784-8. doi: 10.2310/JIM.0b013e3181b9163d. PMID: 19730134

Prognosis

Ranji P, Akbarzadeh A, Rahmati-Yamchi M
Asian Pac J Cancer Prev 2015;16(9):3621-7. PMID: 25987012
Frank S, Heni M, Moss A, von Schnurbein J, Farooqi S, Häring HU, Fritsche A, Preissl H, Wabitsch M
PLoS One 2013;8(6):e65893. Epub 2013 Jun 14 doi: 10.1371/journal.pone.0065893. PMID: 23799059Free PMC Article
Mazen I, El-Gammal M, Abdel-Hamid M, Farooqi IS, Amr K
Mol Genet Metab 2011 Apr;102(4):461-4. Epub 2010 Dec 31 doi: 10.1016/j.ymgme.2010.12.013. PMID: 21306929
Matarese G, Procaccini C, De Rosa V
J Leukoc Biol 2008 Oct;84(4):893-9. Epub 2008 Jun 13 doi: 10.1189/jlb.0108022. PMID: 18552206
Joaquin C, Aguilera E, Granada ML, Pastor MC, Salinas I, Alonso N, Sanmartí A
Eur J Endocrinol 2008 Apr;158(4):483-90. doi: 10.1530/EJE-07-0554. PMID: 18362295

Clinical prediction guides

Paz-Filho GJ
Neural Plast 2016;2016:8528934. Epub 2016 Jan 3 doi: 10.1155/2016/8528934. PMID: 26881138Free PMC Article
Lim MA, Bence KK, Sandesara I, Andreux P, Auwerx J, Ishibashi J, Seale P, Kalb RG
Hum Mol Genet 2014 Sep 15;23(18):4995-5008. Epub 2014 May 15 doi: 10.1093/hmg/ddu214. PMID: 24833719Free PMC Article
Kleinridders A, Lauritzen HP, Ussar S, Christensen JH, Mori MA, Bross P, Kahn CR
J Clin Invest 2013 Nov;123(11):4667-80. doi: 10.1172/JCI67615. PMID: 24084737Free PMC Article
Berman SM, Paz-Filho G, Wong ML, Kohno M, Licinio J, London ED
Cerebellum 2013 Feb;12(1):59-67. doi: 10.1007/s12311-012-0360-z. PMID: 22576622Free PMC Article
Blüher S, Shah S, Mantzoros CS
J Investig Med 2009 Oct;57(7):784-8. doi: 10.2310/JIM.0b013e3181b9163d. PMID: 19730134

Recent systematic reviews

Yadav A, Carey EJ
Nutr Clin Pract 2013 Feb;28(1):52-64. Epub 2012 Dec 20 doi: 10.1177/0884533612470145. PMID: 23263929
Singh RB, Pella D, Mechirova V, Otsuka K
Biomed Pharmacother 2004 Oct;58 Suppl 1:S56-68. PMID: 15754841
Hebebrand J, Exner C, Hebebrand K, Holtkamp C, Casper RC, Remschmidt H, Herpertz-Dahlmann B, Klingenspor M
Physiol Behav 2003 Jun;79(1):25-37. PMID: 12818707
Moschos S, Chan JL, Mantzoros CS
Fertil Steril 2002 Mar;77(3):433-44. PMID: 11872190

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