LEPD
MCID: LPT014
MIFTS: 78

Leptin Deficiency or Dysfunction (LEPD)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Leptin Deficiency or Dysfunction

MalaCards integrated aliases for Leptin Deficiency or Dysfunction:

Name: Leptin Deficiency or Dysfunction 57 11 19 73 71
Obesity Due to Congenital Leptin Deficiency 11 19 42 58 73 28 5
Morbid Obesity 11 73 28 5 14 16
Lepd 57 11 19 42 73
Congenital Leptin Deficiency 11 42 14 71
Obesity, Morbid 57 43 71
Obesity, Morbid, Due to Leptin Deficiency 57 42
Obesity, Severe, Due to Leptin Deficiency 42 38
Obesity, Morbid, Nonsyndromic 1 19 42
Leptin Deficiency 42 73
Severe Obesity 11 14
Morbid Obesity Due to Leptin Deficiency 73
Leptin Dysfunction 5
Obesity Morbid 53
Leptin 16

Characteristics:


Inheritance:

Leptin Deficiency or Dysfunction: Autosomal recessive 57
Obesity Due to Congenital Leptin Deficiency: Autosomal recessive 58

Prevelance:

Obesity Due to Congenital Leptin Deficiency: <1/1000000 (Worldwide) 58

Age Of Onset:

Obesity Due to Congenital Leptin Deficiency: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
some patients have a secreted but biologically inactive mutant leptin
hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin
patients do not exhibit risk factors for cardiovascular disease such as hypertension, lipid dysregulation, or hyperglycemia
immune and endocrine function may improve in some adult patients


Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


External Ids:

Disease Ontology 11 DOID:0111334 DOID:11981
OMIM® 57 614962
ICD9CM 34 278.01
MeSH 43 D009767
NCIt 49 C34858
SNOMED-CT 68 389986000
ICD10 via Orphanet 32 E66.8
Orphanet 58 ORPHA66628
UMLS 71 C0028756 C3554224 C3838754

Summaries for Leptin Deficiency or Dysfunction

MedlinePlus Genetics: 42 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).

MalaCards based summary: Leptin Deficiency or Dysfunction, also known as obesity due to congenital leptin deficiency, is related to gastroesophageal reflux and non-alcoholic fatty liver disease, and has symptoms including obesity, metabolically benign An important gene associated with Leptin Deficiency or Dysfunction is LEP (Leptin), and among its related pathways/superpathways are GPCR downstream signalling and Signal Transduction. The drugs Nadroparin and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include adipocyte, liver and ovary, and related phenotypes are obesity and decreased serum leptin

Disease Ontology: 11 A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has material basis in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1.

GARD: 19 Leptin deficiency is characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction (Ozata et al., 1999).

OMIM®: 57 Leptin deficiency is characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction (Ozata et al., 1999). (614962) (Updated 08-Dec-2022)

Orphanet: 58 Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.

UniProtKB/Swiss-Prot: 73 A rare disease characterized by low levels of serum leptin, severe hyperphagia and intractable obesity from an early age.

Related Diseases for Leptin Deficiency or Dysfunction

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

(show top 50) (show all 1441)
# Related Disease Score Top Affiliating Genes
1 gastroesophageal reflux 31.9 PYY NPY GHRL GCG CCK ADIPOQ
2 non-alcoholic fatty liver disease 31.9 RETN PPARG LPL LEPR LEP INS
3 apnea, obstructive sleep 31.8 RETN PYY POMC LEP INS GHRL
4 sleep apnea 31.7 RETN PPARG NPY MC4R LEPR LEP
5 non-alcoholic steatohepatitis 31.7 PPARG LEP INS GCG ADIPOQ
6 fatty liver disease 31.7 RETN PPARG LPL LEPR LEP INS
7 liver disease 31.7 RETN PPARG LEPR LEP INS ADIPOQ
8 lipid metabolism disorder 31.6 RETN PPARG POMC LPL LEPR LEP
9 abdominal obesity-metabolic syndrome 1 31.6 RETN PPARG LPL LEPR LEP INS
10 nutritional deficiency disease 31.5 RETN PYY NPY LEPR LEP GHRL
11 cholelithiasis 31.5 LEP INS CCK
12 alcohol dependence 31.5 PPARG POMC NPY LEP INS GHRL
13 type 2 diabetes mellitus 31.5 UCP3 RETN PYY PPARG POMC PCSK1
14 eating disorder 31.4 RETN PYY POMC NPY MC4R LEPR
15 hernia, hiatus 31.4 LEP INS GHRL
16 bulimia nervosa 31.4 PYY NPY MC4R LEP INS GHRL
17 dumping syndrome 31.3 PYY INS GHRL GCG CCK
18 obesity-hypoventilation syndrome 31.3 RETN LEP ADIPOQ
19 osteoporosis 31.3 RETN PPARG LEPR LEP INS GHRL
20 volvulus of midgut 31.2 PYY GCG CCK
21 gestational diabetes 31.2 RETN PPARG LEPR LEP INS GHRL
22 peptic ulcer disease 31.2 INS GHRL CCK
23 liver cirrhosis 31.2 RETN NPY LEPR LEP INS GCG
24 prediabetes syndrome 31.1 UCP3 RETN PPARG NPY MC4R LPL
25 prader-willi syndrome 31.1 SIM1 RETN PYY POMC PCSK1 NPY
26 alcohol use disorder 31.1 POMC NPY INS
27 type 1 diabetes mellitus 31.1 LPL LEPR LEP INS GHRL GCG
28 hypoglycemia 31.1 POMC NPY LEP INS GHRL GCG
29 diabetes mellitus 31.1 UCP3 RETN PYY PPARG POMC PCSK1
30 atherosclerosis susceptibility 31.1 RETN PPARG LPL LEP INS ADIPOQ
31 hyperuricemia 31.0 PPARG LEP INS ADRB3
32 anxiety 31.0 POMC NPY LEP INS GHRL CCK
33 lipodystrophy, congenital generalized, type 2 31.0 PPARG LEP INS ADIPOQ
34 pain agnosia 31.0 POMC INS CCK
35 glucose intolerance 31.0 RETN PPARG POMC LPL LEPR LEP
36 irritable bowel syndrome 31.0 PYY POMC GHRL GCG CCK
37 lipodystrophy, familial partial, type 2 31.0 PPARG LEP INS ADIPOQ
38 proteasome-associated autoinflammatory syndrome 1 31.0 RETN PPARG INS ADIPOQ
39 hyperglycemia 31.0 RETN PYY PPARG LPL LEP INS
40 persistent fetal circulation syndrome 31.0 POMC LEP INS
41 peripheral nervous system disease 31.0 PPARG POMC NPY LEP INS GCG
42 kidney disease 31.0 RETN PPARG MC4R LEP INS GHRL
43 hyperinsulinemic hypoglycemia 30.9 POMC INS GCG
44 chronic kidney disease 30.9 LPL LEP INS GHRL ADIPOQ
45 heart disease 30.9 RETN PPARG NPY LPL INS GCG
46 polycystic ovary syndrome 30.9 RETN PPARG POMC LEP INS GHRL
47 carcinoid syndrome 30.9 PYY NPY
48 coronary heart disease 1 30.9 LPL INS ADIPOQ
49 cardiovascular system disease 30.8 RETN PPARG NPY LPL LEPR LEP
50 migraine with or without aura 1 30.8 POMC NPY LEP INS GCG CCK

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



Diseases related to Leptin Deficiency or Dysfunction

Symptoms & Phenotypes for Leptin Deficiency or Dysfunction

Human phenotypes related to Leptin Deficiency or Dysfunction:

58 30 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 58 30 Obligate (100%) Obligate (100%)
HP:0001513
2 decreased serum leptin 58 30 Obligate (100%) Obligate (100%)
HP:0003292
3 primary amenorrhea 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000786
4 hyperinsulinemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000842
5 gynecomastia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000771
6 decreased testicular size 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008734
7 hypergonadotropic hypogonadism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000815
8 decreased serum estradiol 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008214
9 polyphagia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002591
10 hypoplasia of the ovary 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008724
11 absence of secondary sex characteristics 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008187
12 decreased t cell activation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005419
13 decreased serum testosterone concentration 30 Hallmark (90%) HP:0040171
14 decreased proportion of cd4-positive helper t cells 30 Hallmark (90%) HP:0005407
15 hypertriglyceridemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002155
16 recurrent upper respiratory tract infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0002788
17 accelerated skeletal maturation 58 30 Frequent (33%) Frequent (79-30%)
HP:0005616
18 orthostatic hypotension due to autonomic dysfunction 58 30 Frequent (33%) Frequent (79-30%)
HP:0004926
19 pituitary hypothyroidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0008245
20 insulin-resistant diabetes mellitus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000831
21 micropenis 30 HP:0000054
22 recurrent pneumonia 30 HP:0006532
23 hypogonadism 30 HP:0000135
24 decreased testosterone in males 58 Very frequent (99-80%)
25 decreased proportion of cd4-positive t cells 58 Very frequent (99-80%)
26 abnormal eating behavior 30 HP:0100738
27 recurrent ear infections 30 HP:0410018

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Genitourinary Internal Genitalia Female:
primary amenorrhea
small ovaries

Genitourinary:
hypogonadism

Growth Weight:
normal birth weight
early-onset severe obesity

Genitourinary Internal Genitalia Male:
small testes

Abdomen Gastrointestinal:
hyperphagia

Respiratory Lung:
recurrent pulmonary infections

Skin Nails Hair Hair:
no beard
sparse pubic and axillary hair

Immunology:
frequent infections in childhood
reduced number of ct4+ t cells (in some patients)
increase in cd8+ t cells (in some patients)
increase in b cells (in some patients)
marked reduction in cd4+/cd8+ ratio (in some patients)
more
Chest Breasts:
gynecomastia

Head And Neck Ears:
recurrent ear infections

Genitourinary External Genitalia Male:
small penis

Endocrine Features:
low testosterone levels
low estradiol levels
low serum leptin levels (in most patients)
high serum leptin levels (rare)
hypothalamic hypogonadism
more
Neurologic Behavioral Psychiatric Manifestations:
hyperphagia

Respiratory Nasopharynx:
frequent upper respiratory tract infections

Neurologic Peripheral Nervous System:
sympathetic system dysfunction

Clinical features from OMIM®:

614962 (Updated 08-Dec-2022)

UMLS symptoms related to Leptin Deficiency or Dysfunction:


obesity, metabolically benign

GenomeRNAi Phenotypes related to Leptin Deficiency or Dysfunction according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 ADIPOQ ADRB3 AGRP CCK GCG GHRL
2 no effect GR00402-S-2 10.17 ADIPOQ ADRB3 AGRP CCK GCG GHRL

MGI Mouse Phenotypes related to Leptin Deficiency or Dysfunction:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 10.28 ADIPOQ ADRB3 AGRP GHRL INS LEP
2 nervous system MP:0003631 10.27 ADIPOQ AGRP CCK INS LEP LEPR
3 homeostasis/metabolism MP:0005376 10.26 ADIPOQ ADRB3 AGRP CCK GCG GHRL
4 renal/urinary system MP:0005367 10.17 ADIPOQ CCK GCG INS LEP LEPR
5 normal MP:0002873 10.15 AGRP GHRL INS LEPR MC4R NPY
6 liver/biliary system MP:0005370 10.11 ADIPOQ AGRP INS LEP LEPR LPL
7 growth/size/body region MP:0005378 10.09 ADIPOQ ADRB3 AGRP GCG INS LEP
8 muscle MP:0005369 10.06 ADIPOQ INS LEP LEPR LPL PCSK1
9 no phenotypic analysis MP:0003012 10.02 AGRP CCK INS LEPR MC4R POMC
10 endocrine/exocrine gland MP:0005379 9.77 ADIPOQ ADRB3 CCK GCG GHRL INS
11 behavior/neurological MP:0005386 9.5 ADIPOQ ADRB3 AGRP GHRL INS LEP

Drugs & Therapeutics for Leptin Deficiency or Dysfunction

Drugs for Leptin Deficiency or Dysfunction (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 384)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nadroparin Approved, Investigational Phase 4
2
Sodium citrate Approved, Investigational Phase 4 68-04-2 23431961
3
Octreotide Approved, Investigational Phase 4 83150-76-9 383414 6400441
4
Clomifene Approved, Investigational Phase 4 911-45-5 2800
5
Mecobalamin Approved, Investigational Phase 4 13422-55-4
6
Hydroxocobalamin Approved Phase 4 13422-51-0 15589840 44475014
7
Risedronic acid Approved, Investigational Phase 4 105462-24-6 5245
8
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
9
Remifentanil Approved Phase 4 132875-61-7 60815
10
Tocopherol Approved, Investigational Phase 4 1406-66-2
11
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
12
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
13
Micafungin Approved, Investigational Phase 4 235114-32-6 477468
14
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
15
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
16
Amphotericin B Approved, Investigational Phase 4 1397-89-3 5280965
17
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
18
Atorvastatin Approved Phase 4 134523-00-5 60823
19
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
20
Cefazolin Approved Phase 4 25953-19-9 33255
21
Loperamide Approved Phase 4 53179-11-6 3955
22
Anidulafungin Approved, Investigational Phase 4 166663-25-8 166548
23
Chenodeoxycholic acid Approved Phase 4 474-25-9 10133
24
Bismuth subsalicylate Approved, Vet_approved Phase 4 14882-18-9 53629521 16682734
25
Clarithromycin Approved Phase 4 81103-11-9 84029
26
Chlorhexidine Approved, Vet_approved, Withdrawn Phase 4 55-56-1 2713 9552079
27
Coal tar Approved Phase 4 8007-45-2
28
Anastrozole Approved, Investigational Phase 4 120511-73-1 2187
29
Icodextrin Approved, Investigational Phase 4 337376-15-5
30
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
31
Morphine Approved, Investigational Phase 4 57-27-2 5288826
32
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
33
Ondansetron Approved, Withdrawn Phase 4 99614-02-5 4595
34
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
35
Acetaminophen Approved Phase 4 103-90-2 1983
36
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
37
Lorazepam Approved Phase 4 846-49-1 3958
38
Cathine Approved, Experimental, Illicit, Vet_approved, Withdrawn Phase 4 14838-15-4, 492-39-7 131954576 4786 26934
39
Cyclobenzaprine Approved Phase 4 303-53-7 2895
40
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
41
Hydromorphone Approved, Illicit Phase 4 466-99-9, 71-68-1 5284570
42
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
43
Scopolamine Approved, Investigational Phase 4 51-34-3 153311 3000322
44
Ethanol Approved Phase 4 64-17-5 702
45
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
46
Bupropion Approved Phase 4 31677-93-7, 34841-39-9, 34911-55-2 444
47
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
48
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
49
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
50
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 24892734 16212801 44176380

Interventional clinical trials:

(show top 50) (show all 856)
# Name Status NCT ID Phase Drugs
1 Evaluation of the Effects of Laying Early (Between 12 and 16) a Gastric Band on the Prevention of Morbid Obesity in Late Adolescence. Randomized Checked Against Standard Management of Obesity in This Population. Unknown status NCT01700738 Phase 4
2 A Study of the Pharmacokinetics of Dexmedetomidine in Morbid Obesity. Unknown status NCT01864187 Phase 4 Dexmedetomidine
3 Correlation of Postoperative VAS Values and Body Mass Index in Patients Undergoing Abdominal Surgery: A Clinical Trial Unknown status NCT02017314 Phase 4 Morphine
4 Prospective Randomized Study of Effects of Laparoscopic Roux-en-Y Gastric Bypass Versus Laparoscopic Sleeve Gastrectomy Unknown status NCT00667706 Phase 4
5 Laparoscopic Bariatric Surgery: Impact of the Level of Neuromuscular Blockade on Surgical Conditions - Comparison Between Moderate and Deep Neuromuscular Blockade Unknown status NCT02118844 Phase 4 rocuronium
6 Prospective, Pharmacokinetic Study for Determination of the Relationship Between Lean Body Weight and Anti-Xa Activity 4 Hours After Subcutaneous Injection of 5700 IU Nadroparin in Morbidly Obese Patients After Bariatric Surgery. Unknown status NCT02295150 Phase 4 Nadroparin
7 International, Multi Centre, Open, Prospective, Randomized Study: Banded Versus Conventional Laparoscopic Roux-en-Y (GABY) Unknown status NCT01015469 Phase 4
8 Preoperative Carbohydrate Loading in Bariatric Surgery - Randomized Clinical Trail Unknown status NCT04486079 Phase 4
9 Gut Hormones as Mediators of Different Weight Loss Responses After Roux-en-Y Gastric Bypass Unknown status NCT02374632 Phase 4
10 The Effect Of Vitamin D Replacement Therapy On Serum Leptin And Follicular Growth Pattern In Women With Resistant Polycystic Ovarian Syndrome Unknown status NCT03806036 Phase 4 Vitamin D;Clomiphene Citrate
11 Vitamin Deficiencies and Suppletion in Morbid Obesity Completed NCT02270749 Phase 4 Hydroxocobalamin;FitForMe vitamin B12
12 Effect of Bisphosphonate Use on Surgical Weight Loss Associated Bone Loss in Older Adults With Morbid Obesity Completed NCT03411902 Phase 4 Risedronate Sodium 150 MG
13 Randomized Clinical Trial Between Laparoscopic Gastric Bypass and Laparoscopic Vertical Banded Gastroplasty for Morbid Obesity Completed NCT01639677 Phase 4
14 A Prospective Randomized Clinical Trial Evaluating Surgical Conditions During Laparoscopic Bariatric Surgery With Deep Versus Moderate Neuromuscular Blockade Completed NCT02703909 Phase 4 Rocuronium
15 A Novel Preoperative Conditioning Therapy in Giant Obese Patients With the Combination of Liraglutide and a Leucine-Based Amino-Acid Infusion and Caloric Restriction Completed NCT02616003 Phase 4 Liraglutide
16 A Post Implantation/Post Market Evaluation of Safety and Quality of Life in Subjects Implanted With the Swedish Adjustable Gastric Band (SAGB) During Protocol CI-02-0006 Completed NCT00543140 Phase 4
17 Effectiveness and Tolerability of Phentermine in the Reduction of Intrahepatic Fat Infiltration, Adipose Tissue and Postoperative Complications in Patients Under Bariatric Surgery Completed NCT03849729 Phase 4 Phentermine
18 Quadratus Lumborum II Block vs Conventional Therapy Alone For Laparoscopic Sleeve Gastrectomy Completed NCT04073056 Phase 4 Bupivacaine
19 A Randomized Controlled Trial for Epidural Labor Analgesia: Comparison of Dural Puncture Epidural With Standard Labor Epidural Techniques Completed NCT03074695 Phase 4 Dural puncture epidural (DPE);Standard Epidural (EPL)
20 Micafungin (Mycamine®) Pharmacokinetics Given as a Single Intravenous Dose to Obese Patients (MICADO). Completed NCT03102658 Phase 4 Micafungin
21 Population Pharmacokinetics and Pharmacodynamics of Propofol in the Morbidly Obese Patient Completed NCT00395681 Phase 4 Diprivan
22 Pharmacokinetics of Liposomal Amphotericin B (AmBisome®) Given Intravenously to Patients Undergoing Bariatric Surgery Completed NCT02320604 Phase 4 Administration of study drug
23 Pharmacokinetics of Posaconazole Given as a Single Intravenous Dose to Obese Subjects: Dosing Obese With Noxafil® Under a Trial (DONUT) Completed NCT03246386 Phase 4 Posaconazole Injection [Noxafil] 300mg;Posaconazole Injection [Noxafil] 400mg
24 Investigations on the Influence of Bariatric Surgery on the Metabolism and Absorption of Atorvastatin Completed NCT00331565 Phase 4
25 A Comparison of Cerebral Oximetry After Propofol-Based Total Intravenous Anesthesia and Sevoflurane Inhalation Anesthesia in Morbidly Obese Patients Undergoing LSG: a Prospective, Single-Blinded, Randomized, Parallel-Group Study. Completed NCT03946657 Phase 4 Inhalational anesthetic;Intravenous anesthetic
26 Pharmacokinetics of Intravenous Acetaminophen and Its Metabolites in Morbidly Obese Patients Completed NCT01764555 Phase 4 acetaminophen 2 g
27 Omega-3 Fatty Acids in Bariatric Gastric Bypass Surgery: Effect on Liver Volume, Immune Response and Erythrocyte Function Completed NCT02206256 Phase 4 Omega-3 fatty acid capsules
28 CYP3A4 Metabolism Before and After Surgery Induced Weight Loss in Morbidly Obese Patients Using Midazolam as a Model Drug Completed NCT01519726 Phase 4 Midazolam
29 Increased Cefazolin (Ancef) Dosing for Prophylaxis During Cesarean Delivery in the Obese Population Completed NCT02049944 Phase 4 Cefazolin
30 Pharmacokinetics of Anidulafungin (Ecalta ®) Given Intravenously as Prophylaxis to Obese Patients With Risk of Invasive Fungal Infection Undergoing Gastric Bypass Surgery. Completed NCT02021123 Phase 4 Anidulafungin 100mg single dose iv
31 Effect of Bile Acids and Bile Acid Sequstrants on GLP-1 Secretion After Roux-en-Y Gastric Bypass Completed NCT02952963 Phase 4 Chenodeoxycholic Acid;Colesevelam
32 THE EFFECT OF HELICOBACTER PYLORI ERADICATION THERAPY TO GASTRIC WALL THICKNESS BEFORE THE LAPAROSCOPIC SLEEVE GASTRECTOMY Completed NCT03757650 Phase 4 Bismuth Subsalicylate
33 Comparisons of iv Ibuprofen and iv Paracetamol for Postoperative Pain Levels and Opioid Consumption During Bariatric Surgery Completed NCT02778958 Phase 4 paracetamol;ibuprofen
34 Clinical, Microbial and Biochemistry Evaluation of Obese Individuals Submitted to One-stage Full-mouth Disinfection. A Clinical Control Parallel Study Completed NCT03103204 Phase 4
35 Aromatase Inhibitors and Weight Loss in Severely Obese Hypogonadal Male Veterans (Pilot) Completed NCT02959853 Phase 4 Anastrazole
36 Efficacy and Tolerability of Garcinia Mangostana Extracts in the Management of Weight Loss in Severe Obese Patients Completed NCT02823561 Phase 4
37 Effects of Ursodeoxycholic Acid and Chenodeoxycholic Acid on GLP-1 Secretion After Roux-en-Y Gastric Bypass Completed NCT02340247 Phase 4 Ursodeoxycholic Acid;Chenodeoxycholic Acid
38 Effects of Chenodeoxycholic Acid and Colesevelam on GLP-1 Secretion, During a Meal, After Roux-en-Y Gastric Bypass Completed NCT02876484 Phase 4 Colesevelam;Chenodeoxycholic Acid
39 Pharmacokinetics (PK) of Propofol in Bariatric (Morbidly Obese) Patients Completed NCT01536002 Phase 4 Propofol
40 The Role of Leptin in Modulating Vascular Tone and Endothelial Function in Obese and Normal Weight Adults: A Vascular-Protective Effect of Leptin? Completed NCT00121433 Phase 4 leptin
41 Leptin and Ghrelin in ICU Completed NCT02282501 Phase 4
42 Effects of EPA Alone and Combined With Vitamin E on Blood Leptin, Adiponectin and Enzymatic Antioxidants Levels in Type II Diabetic Patients; A Randomized, Double-Blind, Placebo-Controlled Trial Completed NCT00817622 Phase 4
43 Effects of Non-Glucose-Based Peritoneal Dialysis Solution "EXTRANEAL" on Changes in Leptin Levels and Sympathetic Activity Induced by Conventional Glucose-Based Dialysate "DIANEAL" in Patients on Peritoneal Dialysis Completed NCT01228279 Phase 4
44 Multimodal Analgesia Effect on Post Surgical Patient Recruiting NCT04240626 Phase 4 Neurontin;Dilaudid Injectable Product;Marcaine Injectable Product;Oxycodone Hydrochloride;Hycet 7.5Mg-325Mg/15Ml Solution;Zofran Injection;Scopolamine patch;Ativan;Flexeril Oral Product;Tylenol Suspension
45 ED90 for Hyperbaric Bupivacaine in Spinal Anesthesia for Cesarean Delivery in Super Obese Parturients Recruiting NCT03781388 Phase 4 Bupivacaine
46 Evaluation of Propofol Dosing Based on Total Body Weight Versus Adjusted Body Weight in Obese Patients Receiving Total Intravenous Anaesthesia With Automated Closed-Loop Anaesthesia Delivery System: A Randomized Controlled Study Recruiting NCT05305313 Phase 4 Propofol
47 The Bioavailability and Effect on Pouch pH of Esomeprazole as Tablets or in Solution After Laparoscopic Proximal RYGB for Morbid Obesity - an Investigator Blinded Pilot Study Not yet recruiting NCT05320796 Phase 4
48 Use of Mysimba in Patients With Weight Regain After Bariatric Surgery Not yet recruiting NCT04902625 Phase 4 Naltrexone-Bupropion Combination
49 A Multicenter Study of the Effect of Recombinant Human Growth Hormone on Leptin and Cytokines in Relation to Body Composition in Pediatric Patients With Growth Failure Due to Chronic Kidney Disease (CKD) Terminated NCT00194961 Phase 4 Recombinant Human Growth Hormone
50 Randomized, Prospective, Double-blind Trial of PPI vs Placebo in Prevention of Gastrojejunal Strictures After Laparoscopic Roux-en-Y Gastric Bypass for Morbid Obesity Withdrawn NCT00361985 Phase 4 Esomeprazole

Search NIH Clinical Center for Leptin Deficiency or Dysfunction

Cochrane evidence based reviews: obesity, morbid

Genetic Tests for Leptin Deficiency or Dysfunction

Genetic tests related to Leptin Deficiency or Dysfunction:

# Genetic test Affiliating Genes
1 Obesity Due to Congenital Leptin Deficiency 28 LEP
2 Morbid Obesity 28

Anatomical Context for Leptin Deficiency or Dysfunction

Organs/tissues related to Leptin Deficiency or Dysfunction:

MalaCards : Adipocyte, Liver, Ovary, T Cells, Hypothalamus, Brain, Skeletal Muscle

Publications for Leptin Deficiency or Dysfunction

Articles related to Leptin Deficiency or Dysfunction:

(show top 50) (show all 43374)
# Title Authors PMID Year
1
Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults. 53 62 57 5
15070752 2004
2
A leptin missense mutation associated with hypogonadism and morbid obesity. 53 62 57 5
9500540 1998
3
Biologically inactive leptin and early-onset extreme obesity. 62 57 5
25551525 2015
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. 62 57 5
15472169 2004
5
Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency. 62 57 5
12393845 2002
6
Congenital leptin deficiency is associated with severe early-onset obesity in humans. 62 57 5
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Leptin replacement alters brain response to food cues in genetically leptin-deficient adults. 53 62 57
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8
Human leptin deficiency caused by a missense mutation: multiple endocrine defects, decreased sympathetic tone, and immune system dysfunction indicate new targets for leptin action, greater central than peripheral resistance to the effects of leptin, and spontaneous correction of leptin-mediated defects. 53 62 57
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9
Positional cloning of the mouse obese gene and its human homologue. 53 62 57
7984236 1994
10
Interleukin-18, together with interleukin-12, induces severe acute pancreatitis in obese but not in nonobese leptin-deficient mice. 62 57
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11
A role for leptin in sustaining lymphopoiesis and myelopoiesis. 62 57
18250302 2008
12
Leptin regulates striatal regions and human eating behavior. 62 57
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13
Efficacy and safety of leptin-replacement therapy and possible mechanisms of leptin actions in patients with generalized lipodystrophy. 62 57
17118991 2007
14
Is leptin an important physiological regulator of CRP? 62 57
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15
Induction of leptin resistance through direct interaction of C-reactive protein with leptin. 62 57
16582918 2006
16
Disruption of leptin signaling contributes to cardiac hypertrophy independently of body weight in mice. 62 57
12885755 2003
17
Leptin-deficient mice exhibit impaired host defense in Gram-negative pneumonia. 62 57
11937559 2002
18
Partial leptin deficiency and human adiposity. 62 57
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19
Weekly subcutaneous pegylated recombinant native human leptin (PEG-OB) administration in obese men. 62 57
11095423 2000
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Leptin inhibits bone formation through a hypothalamic relay: a central control of bone mass. 62 57
10660043 2000
21
Effects of recombinant leptin therapy in a child with congenital leptin deficiency. 62 57
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Effects of mutations in the human uncoupling protein 3 gene on the respiratory quotient and fat oxidation in severe obesity and type 2 diabetes. 62 5
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Abnormal regulation of the leptin gene in the pathogenesis of obesity. 62 57
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Ciliary neurotrophic factor corrects obesity and diabetes associated with leptin deficiency and resistance. 62 57
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Correction of obesity and diabetes in genetically obese mice by leptin gene therapy. 62 57
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Peroxisome proliferator-activated receptor gamma C161-->T polymorphism and coronary artery disease. 5
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Obesity associated with a mutation in a genetic regulator of adipocyte differentiation. 5
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Recombinant mouse OB protein: evidence for a peripheral signal linking adiposity and central neural networks. 57
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29
Weight-reducing effects of the plasma protein encoded by the obese gene. 57
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Effects of the obese gene product on body weight regulation in ob/ob mice. 57
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Genetics. In search of a satiety factor. 57
7984230 1994
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Obesity genes: beneficial effects in heterozygous mice. 57
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Thermogenic defect in pre-obese ob/ob mice. 57
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Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"? 57
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Obese, a new mutation in the house mouse. 57
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Chemerin correlates with markers for fatty liver in morbidly obese patients and strongly decreases after weight loss induced by bariatric surgery. 53 62
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The relationships between IGF-1 and CRP, NO, leptin, and adiponectin during weight loss in the morbidly obese. 53 62
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Rates of lipid fluxes in adipose tissue in vivo after a mixed meal in morbid obesity. 53 62
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Metabolic syndrome and insulin resistance in subjects with morbid obesity. 53 62
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Estradiol and metabolic syndrome in older italian men: The InCHIANTI Study. 53 62
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Leptin-signaling pathways and leptin resistance. 53 62
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Ala54Thr polymorphism of fatty acid binding protein 2, role on insulin resistance and cardiovascular risk factors in presurgical morbid obesity patients. 53 62
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Effects of acute administration of acylated and unacylated ghrelin on glucose and insulin concentrations in morbidly obese subjects without overt diabetes. 53 62
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Inflammatory mediators in morbidly obese subjects: associations with glucose abnormalities and changes after oral glucose. 53 62
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A novel function of intestinal gluconeogenesis: central signaling in glucose and energy homeostasis. 53 62
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[Study of the relationship between adiponectin, interleukin-18, ghrelin and bone mineral density in morbidly obese women after gastric bypass]. 53 62
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Rates of glucose uptake in adipose tissue and muscle in vivo after a mixed meal in women with morbid obesity. 53 62
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Adipocyte fatty acid-binding protein as a determinant of insulin sensitivity in morbid-obese women. 53 62
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The effect of intragastric balloon on plasma ghrelin, leptin, and adiponectin levels in patients with morbid obesity. 53 62
19258408 2009

Variations for Leptin Deficiency or Dysfunction

ClinVar genetic disease variations for Leptin Deficiency or Dysfunction:

5 (show top 50) (show all 78)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PPARG NM_138711.6(PPARG):c.248C>A (p.Pro83Gln) SNV Pathogenic
8130 rs1800571 GRCh37: 3:12422848-12422848
GRCh38: 3:12381349-12381349
2 LEP NM_000230.3(LEP):c.313C>T (p.Arg105Trp) SNV Pathogenic
13987 rs104894023 GRCh37: 7:127894625-127894625
GRCh38: 7:128254572-128254572
3 LEP NM_000230.3(LEP):c.298G>T (p.Asp100Tyr) SNV Pathogenic
162430 rs724159998 GRCh37: 7:127894610-127894610
GRCh38: 7:128254557-128254557
4 LEP NM_000230.3(LEP):c.398del (p.Gly133fs) DEL Pathogenic
13986 GRCh37: 7:127894705-127894705
GRCh38: 7:128254652-128254652
5 UCP3 NM_003356.4(UCP3):c.824+1G>A SNV Pathogenic
7578 rs45476292 GRCh37: 11:73714871-73714871
GRCh38: 11:74003826-74003826
6 LEP NM_000230.3(LEP):c.461T>C (p.Leu154Pro) SNV Likely Pathogenic
448905 rs1554394014 GRCh37: 7:127894773-127894773
GRCh38: 7:128254720-128254720
7 LEP NM_000230.3(LEP):c.*1318G>C SNV Uncertain Significance
908787 rs200129463 GRCh37: 7:127896134-127896134
GRCh38: 7:128256081-128256081
8 LEP NM_000230.3(LEP):c.*1369G>T SNV Uncertain Significance
908788 rs1482418354 GRCh37: 7:127896185-127896185
GRCh38: 7:128256132-128256132
9 LEP NM_000230.3(LEP):c.*1422A>T SNV Uncertain Significance
908789 rs1795337523 GRCh37: 7:127896238-127896238
GRCh38: 7:128256185-128256185
10 LEP NM_000230.3(LEP):c.*2110G>T SNV Uncertain Significance
908851 rs187235717 GRCh37: 7:127896926-127896926
GRCh38: 7:128256873-128256873
11 LEP NM_000230.3(LEP):c.-14T>G SNV Uncertain Significance
909528 rs1795280375 GRCh37: 7:127892058-127892058
GRCh38: 7:128252005-128252005
12 LEP NM_000230.3(LEP):c.*373G>A SNV Uncertain Significance
909587 rs183801334 GRCh37: 7:127895189-127895189
GRCh38: 7:128255136-128255136
13 LEP NM_000230.3(LEP):c.*1579G>A SNV Uncertain Significance
909642 rs200802392 GRCh37: 7:127896395-127896395
GRCh38: 7:128256342-128256342
14 LEP NM_000230.3(LEP):c.*1637A>G SNV Uncertain Significance
909643 rs780861433 GRCh37: 7:127896453-127896453
GRCh38: 7:128256400-128256400
15 LEP NM_000230.3(LEP):c.*2245C>G SNV Uncertain Significance
909706 rs201052331 GRCh37: 7:127897061-127897061
GRCh38: 7:128257008-128257008
16 LEP NM_000230.3(LEP):c.*2263G>A SNV Uncertain Significance
909707 rs1795349651 GRCh37: 7:127897079-127897079
GRCh38: 7:128257026-128257026
17 LEP NM_000230.3(LEP):c.*2437C>T SNV Uncertain Significance
909708 rs536449594 GRCh37: 7:127897253-127897253
GRCh38: 7:128257200-128257200
18 LEP NM_000230.3(LEP):c.143C>T (p.Thr48Met) SNV Uncertain Significance
910457 rs770247453 GRCh37: 7:127892214-127892214
GRCh38: 7:128252161-128252161
19 LEP NM_000230.3(LEP):c.*653A>C SNV Uncertain Significance
910510 rs201341056 GRCh37: 7:127895469-127895469
GRCh38: 7:128255416-128255416
20 LEP NM_000230.3(LEP):c.*750G>C SNV Uncertain Significance
910511 rs977939827 GRCh37: 7:127895566-127895566
GRCh38: 7:128255513-128255513
21 LEP NM_000230.3(LEP):c.*781G>C SNV Uncertain Significance
910512 rs70940808 GRCh37: 7:127895597-127895597
GRCh38: 7:128255544-128255544
22 LEP NM_000230.3(LEP):c.*1738G>A SNV Uncertain Significance
910572 rs201949587 GRCh37: 7:127896554-127896554
GRCh38: 7:128256501-128256501
23 LEP NM_000230.3(LEP):c.*1749T>C SNV Uncertain Significance
910573 rs1483827030 GRCh37: 7:127896565-127896565
GRCh38: 7:128256512-128256512
24 LEP NM_000230.3(LEP):c.*1825T>C SNV Uncertain Significance
910574 rs199792491 GRCh37: 7:127896641-127896641
GRCh38: 7:128256588-128256588
25 LEP NM_000230.3(LEP):c.*962T>G SNV Uncertain Significance
911752 rs1795330798 GRCh37: 7:127895778-127895778
GRCh38: 7:128255725-128255725
26 LEP NM_000230.3(LEP):c.*1124G>A SNV Uncertain Significance
911753 rs3750034 GRCh37: 7:127895940-127895940
GRCh38: 7:128255887-128255887
27 LEP NM_000230.3(LEP):c.*1185C>T SNV Uncertain Significance
911754 rs200556203 GRCh37: 7:127896001-127896001
GRCh38: 7:128255948-128255948
28 LEP NM_000230.3(LEP):c.*1886T>G SNV Uncertain Significance
911808 rs201604408 GRCh37: 7:127896702-127896702
GRCh38: 7:128256649-128256649
29 LEP NM_000230.3(LEP):c.*2800G>A SNV Uncertain Significance
911852 rs1378129983 GRCh37: 7:127897616-127897616
GRCh38: 7:128257563-128257563
30 LEP NM_000230.3(LEP):c.21C>T (p.Cys7=) SNV Uncertain Significance
358815 rs201523305 GRCh37: 7:127892092-127892092
GRCh38: 7:128252039-128252039
31 LEP NM_000230.3(LEP):c.*57C>T SNV Uncertain Significance
911681 rs1795318328 GRCh37: 7:127894873-127894873
GRCh38: 7:128254820-128254820
32 LEP NM_000230.3(LEP):c.*33C>T SNV Uncertain Significance
911680 rs62481073 GRCh37: 7:127894849-127894849
GRCh38: 7:128254796-128254796
33 LEP NM_000230.3(LEP):c.436G>T (p.Ala146Ser) SNV Uncertain Significance
911679 rs1795315989 GRCh37: 7:127894748-127894748
GRCh38: 7:128254695-128254695
34 LEP NM_000230.3(LEP):c.*2503C>T SNV Uncertain Significance
910630 rs200431904 GRCh37: 7:127897319-127897319
GRCh38: 7:128257266-128257266
35 LEP NM_000230.3(LEP):c.*2738G>A SNV Uncertain Significance
358852 rs201644572 GRCh37: 7:127897554-127897554
GRCh38: 7:128257501-128257501
36 LEP NM_000230.3(LEP):c.*2015C>A SNV Uncertain Significance
358840 rs28959471 GRCh37: 7:127896831-127896831
GRCh38: 7:128256778-128256778
37 LEP NM_000230.3(LEP):c.*992G>T SNV Uncertain Significance
358830 rs886061976 GRCh37: 7:127895808-127895808
GRCh38: 7:128255755-128255755
38 LEP NM_000230.3(LEP):c.*785A>G SNV Uncertain Significance
358829 rs114834517 GRCh37: 7:127895601-127895601
GRCh38: 7:128255548-128255548
39 LEP NM_000230.3(LEP):c.*150G>A SNV Uncertain Significance
358822 rs28954115 GRCh37: 7:127894966-127894966
GRCh38: 7:128254913-128254913
40 LEP NM_000230.3(LEP):c.*2224G>A SNV Uncertain Significance
358843 rs28959472 GRCh37: 7:127897040-127897040
GRCh38: 7:128256987-128256987
41 LEP NM_000230.3(LEP):c.53A>G (p.Tyr18Cys) SNV Uncertain Significance
910456 rs148407750 GRCh37: 7:127892124-127892124
GRCh38: 7:128252071-128252071
42 LEP NM_000230.3(LEP):c.165G>A (p.Gln55=) SNV Uncertain Significance
724209 rs138908051 GRCh37: 7:127894477-127894477
GRCh38: 7:128254424-128254424
43 LEP NM_000230.3(LEP):c.*204C>T SNV Uncertain Significance
358823 rs113405088 GRCh37: 7:127895020-127895020
GRCh38: 7:128254967-128254967
44 LEP NM_000230.3(LEP):c.*360G>A SNV Uncertain Significance
358825 rs200748706 GRCh37: 7:127895176-127895176
GRCh38: 7:128255123-128255123
45 LEP NM_000230.3(LEP):c.*1428C>A SNV Uncertain Significance
358835 rs76601079 GRCh37: 7:127896244-127896244
GRCh38: 7:128256191-128256191
46 LEP NM_000230.3(LEP):c.144+15C>T SNV Uncertain Significance
358816 rs776318015 GRCh37: 7:127892230-127892230
GRCh38: 7:128252177-128252177
47 LEP NM_000230.3(LEP):c.*366A>T SNV Uncertain Significance
358826 rs28954118 GRCh37: 7:127895182-127895182
GRCh38: 7:128255129-128255129
48 LEP NM_000230.3(LEP):c.*1549T>C SNV Uncertain Significance
358836 rs201701012 GRCh37: 7:127896365-127896365
GRCh38: 7:128256312-128256312
49 LEP NM_000230.3(LEP):c.*1010C>A SNV Uncertain Significance
358831 rs138289049 GRCh37: 7:127895826-127895826
GRCh38: 7:128255773-128255773
50 LEP NM_000230.3(LEP):c.*2822dup DUP Uncertain Significance
358854 rs56247456 GRCh37: 7:127897620-127897621
GRCh38: 7:128257567-128257568

UniProtKB/Swiss-Prot genetic disease variations for Leptin Deficiency or Dysfunction:

73
# Symbol AA change Variation ID SNP ID
1 LEP p.Arg105Trp VAR_008094 rs104894023
2 LEP p.Asp100Tyr VAR_075144 rs724159998

Expression for Leptin Deficiency or Dysfunction

LifeMap Discovery
Genes differentially expressed in tissues of Leptin Deficiency or Dysfunction patients vs. healthy controls: 35
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 GAPDH glyceraldehyde-3-phosphate dehydrogenase Skeletal Muscle - 5.09 0.006
2 SLN sarcolipin Skeletal Muscle - 4.64 0.007
Search GEO for disease gene expression data for Leptin Deficiency or Dysfunction.

Pathways for Leptin Deficiency or Dysfunction

Pathways related to Leptin Deficiency or Dysfunction according to GeneCards Suite gene sharing:

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.49 ADRB3 CCK GCG GHRL MC3R MC4R
2 13.48 ADRB3 CCK GCG GHRL INS LEP
3
Show member pathways
13.28 PYY POMC NPY MC4R MC3R GHRL
4 12.46 UCP3 PPARG INS GCG ADIPOQ
5
Show member pathways
12.42 PPARG LPL LEP ADIPOQ
6
Show member pathways
12.06 POMC MC4R MC3R GCG ADRB3
7
Show member pathways
12.04 LEPR LEP INS ADIPOQ
8
Show member pathways
12.03 POMC PCSK1 LEP INS GHRL GCG
9
Show member pathways
12 RETN POMC NPY INS AGRP
10
Show member pathways
11.85 PPARG GCG ADRB3
11 11.75 RETN PPARG LPL LEP INS ADIPOQ
12 11.74 PPARG LPL LEP INS ADIPOQ
13
Show member pathways
11.73 PPARG LPL ADIPOQ
14 11.56 GHRL INS PCSK1 POMC
15
Show member pathways
11.54 PCSK1 LEP GCG
16 11.43 LEPR LEP INS
17 11.37 LEPR LEP INS ADIPOQ
18 11.35 PPARG POMC NPY MC4R AGRP ADRB3
19
Show member pathways
11.21 POMC LEPR LEP
20
Show member pathways
11.17 LEPR LEP INS
21 11.11 PPARG LEP ADIPOQ
22 11.04 PPARG LEP ADIPOQ
23 10.99 POMC MC4R AGRP
24 10.58 PYY POMC NPY MC4R LEPR LEP
25 10.38 PYY GCG

GO Terms for Leptin Deficiency or Dysfunction

Cellular components related to Leptin Deficiency or Dysfunction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.25 RETN PYY POMC NPY LPL LEPR
2 extracellular space GO:0005615 9.74 RETN PYY POMC PCSK1 NPY LPL
3 secretory granule lumen GO:0034774 9.65 GCG GHRL INS PCSK1 POMC

Biological processes related to Leptin Deficiency or Dysfunction according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.5 ADIPOQ ADRB3 CCK INS LEP MC3R
2 positive regulation of MAPK cascade GO:0043410 10.26 LEP INS GHRL ADRB3
3 aging GO:0007568 10.25 ADRB3 NPY RETN UCP3
4 neuropeptide signaling pathway GO:0007218 10.19 AGRP NPY POMC PYY
5 positive regulation of cold-induced thermogenesis GO:0120162 10.18 ADIPOQ ADRB3 GHRL LEP LEPR
6 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 10.17 ADRB3 GCG MC3R MC4R
7 glucose metabolic process GO:0006006 10.16 ADIPOQ GHRL INS LEP
8 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger GO:0007187 10.15 NPY MC3R ADRB3
9 response to glucocorticoid GO:0051384 10.14 UCP3 PCSK1 ADIPOQ
10 generation of precursor metabolites and energy GO:0006091 10.12 POMC ADRB3 ADIPOQ
11 hormone-mediated signaling pathway GO:0009755 10.11 PPARG GHRL AGRP
12 response to activity GO:0014823 10.11 UCP3 LEP GCG ADIPOQ
13 regulation of blood pressure GO:0008217 10.11 PPARG POMC NPY MC3R LEP
14 response to insulin GO:0032868 10.1 AGRP LEP MC4R RETN UCP3
15 response to nutrient GO:0007584 10.09 ADIPOQ LEP PPARG UCP3
16 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 10.07 MC4R MC3R GCG ADRB3
17 negative regulation of gluconeogenesis GO:0045721 10.04 LEPR INS ADIPOQ
18 response to cold GO:0009409 10.04 UCP3 PPARG LPL ADRB3
19 eating behavior GO:0042755 10.03 LEP CCK AGRP ADRB3
20 leptin-mediated signaling pathway GO:0033210 9.97 LEPR LEP
21 negative regulation of lipid storage GO:0010888 9.97 PPARG LEP
22 regulation of metabolic process GO:0019222 9.97 MC4R MC3R LEP
23 positive regulation of adipose tissue development GO:1904179 9.96 PPARG GHRL
24 regulation of bone remodeling GO:0046850 9.93 LEPR LEP
25 response to nutrient levels GO:0031667 9.93 ADIPOQ GHRL LEP PCSK1
26 bone growth GO:0098868 9.92 LEPR LEP
27 energy reserve metabolic process GO:0006112 9.92 MC4R LEPR LEP ADRB3
28 positive regulation of fatty acid metabolic process GO:0045923 9.91 PPARG ADIPOQ
29 positive regulation of eating behavior GO:1904000 9.91 NPY GHRL
30 positive regulation of appetite GO:0032100 9.9 NPY GHRL
31 response to melanocyte-stimulating hormone GO:1990680 9.88 POMC MC4R
32 negative regulation of feeding behavior GO:2000252 9.85 RETN MC4R INS
33 positive regulation of feeding behavior GO:2000253 9.83 GHRL AGRP
34 negative regulation of acute inflammatory response GO:0002674 9.82 PPARG INS
35 regulation of feeding behavior GO:0060259 9.8 MC4R MC3R LEPR AGRP
36 adult feeding behavior GO:0008343 9.76 AGRP GHRL LEP NPY
37 feeding behavior GO:0007631 9.65 PYY NPY MC4R GCG AGRP
38 glucose homeostasis GO:0042593 9.47 PPARG POMC LEPR LEP INS GCG

Molecular functions related to Leptin Deficiency or Dysfunction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.97 ADIPOQ AGRP GCG LEP LPL NPY
2 peptide hormone binding GO:0017046 9.93 MC4R MC3R LEPR
3 G protein-coupled receptor binding GO:0001664 9.86 PYY POMC NPY GHRL
4 peptide hormone receptor binding GO:0051428 9.78 LEP CCK
5 melanocortin receptor activity GO:0004977 9.73 MC4R MC3R
6 type 1 melanocortin receptor binding GO:0070996 9.71 POMC AGRP
7 neuropeptide Y receptor binding GO:0031841 9.67 PYY NPY
8 melanocyte-stimulating hormone receptor activity GO:0004980 9.62 MC4R MC3R
9 hormone activity GO:0005179 9.6 RETN PYY POMC NPY LEP INS
10 neuropeptide hormone activity GO:0005184 9.56 PYY NPY CCK AGRP

Sources for Leptin Deficiency or Dysfunction

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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