MCID: SYN116
MIFTS: 27

Syndromic Obesity

Categories: Endocrine diseases, Fetal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Syndromic Obesity

MalaCards integrated aliases for Syndromic Obesity:

Name: Syndromic Obesity 58

Classifications:

Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA240371

Summaries for Syndromic Obesity

MalaCards based summary : Syndromic Obesity is related to body mass index quantitative trait locus 12 and genetic obesity. An important gene associated with Syndromic Obesity is LOC101929710 (Uncharacterized LOC101929710), and among its related pathways/superpathways are Peptide hormone metabolism and Adipocytokine signaling pathway. The drug Melatonin has been mentioned in the context of this disorder. Affiliated tissues include bone, hypothalamus and cortex, and related phenotype is adipose tissue.

Related Diseases for Syndromic Obesity

Diseases related to Syndromic Obesity via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 body mass index quantitative trait locus 12 30.8 PCSK1 LOC101929710
2 genetic obesity 30.1 LEPR LEP
3 sleep apnea 29.4 LEPR LEP
4 bardet-biedl syndrome 29.1 SIM1 POMC LEPR LEP
5 body mass index quantitative trait locus 11 28.8 SIM1 POMC PCSK1 LOC101929710 LEPROT LEPR
6 prader-willi syndrome 28.6 SIM1 POMC PCSK1 LOC106728418 LEPR LEP
7 leptin deficiency or dysfunction 28.4 SIM1 POMC PCSK1 LEPROT LEPR LEP
8 genetic non-syndromic obesity 11.0
9 body mass index quantitative trait locus 9 10.4
10 body mass index quantitative trait locus 8 10.4
11 body mass index quantitative trait locus 4 10.4
12 body mass index quantitative trait locus 10 10.4
13 body mass index quantitative trait locus 7 10.4
14 body mass index quantitative trait locus 14 10.4
15 body mass index quantitative trait locus 18 10.4
16 body mass index quantitative trait locus 19 10.4
17 proprotein convertase 1/3 deficiency 10.2 PCSK1 LOC101929710
18 hypothalamic obesity 10.1 LEPR LEP
19 lipoblastoma 10.1 LEPR LEP
20 alstrom syndrome 10.1
21 alacrima, achalasia, and mental retardation syndrome 10.1
22 leptin receptor deficiency 10.1 LEPROT LEPR
23 severe pre-eclampsia 10.0 LEPR LEP
24 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.0 POMC LEP
25 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.0 SIM1 PCSK1
26 sick building syndrome 10.0 POMC LEP
27 atypical depressive disorder 10.0 POMC LEP
28 glucocorticoid deficiency 1 10.0 POMC LEP
29 diencephalic neoplasm 10.0 POMC LEP
30 intracranial hypertension, idiopathic 10.0 POMC LEP
31 adult syndrome 10.0 POMC LEP
32 nutritional deficiency disease 10.0 LEPR LEP
33 hypercholesterolemia, familial, 4 10.0 POMC LEP
34 persistent fetal circulation syndrome 10.0 POMC LEP
35 gynecomastia 10.0 POMC LEP
36 disorder of sexual development 10.0 POMC LEP
37 prediabetes syndrome 10.0 LEPR LEP
38 aromatase excess syndrome 9.9 POMC LEP
39 non-alcoholic fatty liver disease 9.9
40 amenorrhea 9.9 POMC LEP
41 fibromyalgia 9.9 POMC LEP
42 myoma 9.9 LEPR LEP
43 kallmann syndrome 9.9 PCSK1 LEPR LEP
44 thyroid gland disease 9.8 POMC LEP
45 aniridia 1 9.8
46 type 2 diabetes mellitus 9.8
47 hypertriglyceridemia, familial 9.8
48 strabismus 9.8
49 telecanthus 9.8
50 digeorge syndrome 9.8

Graphical network of the top 20 diseases related to Syndromic Obesity:



Diseases related to Syndromic Obesity

Symptoms & Phenotypes for Syndromic Obesity

MGI Mouse Phenotypes related to Syndromic Obesity:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.1 LEP LEPR LEPROT PCSK1 POMC SIM1

Drugs & Therapeutics for Syndromic Obesity

Drugs for Syndromic Obesity (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Melatonin Approved, Nutraceutical, Vet_approved 73-31-4 896

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing Unknown status NCT02510989
2 Phenotypic Characterization and Array CGH Analysis in Patients With Syndromic Obesity of Unknown Etiology Completed NCT01043198
3 Melatonin Levels and Obesity Completed NCT03316989

Search NIH Clinical Center for Syndromic Obesity

Genetic Tests for Syndromic Obesity

Anatomical Context for Syndromic Obesity

MalaCards organs/tissues related to Syndromic Obesity:

40
Bone, Hypothalamus, Cortex, Prefrontal Cortex

Publications for Syndromic Obesity

Articles related to Syndromic Obesity:

(show top 50) (show all 87)
# Title Authors PMID Year
1
A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review. 61
33622623 2021
2
Clinical management of patients with genetic obesity during COVID-19 pandemic: position paper of the ESE Growth & Genetic Obesity COVID-19 Study Group and Rare Endo-ERN main thematic group on Growth and Obesity. 61
33512658 2021
3
A Rare Potential Pathogenic Variant in the BDNF Gene is Found in a Brazilian Patient with Severe Childhood-Onset Obesity. 61
33442278 2021
4
Rare genetic forms of obesity: From gene to therapy. 61
32805220 2020
5
Genetic Determinants of Childhood Obesity. 61
33006084 2020
6
MECHANISMS IN ENDOCRINOLOGY: Update on treatments for patients with genetic obesity. 61
33107433 2020
7
Fat-Free Mass Is Better Related to Serum Uric Acid Than Metabolic Homeostasis in Prader-Willi Syndrome. 61
32854398 2020
8
A 24-Week Physical Activity Intervention Increases Bone Mineral Content without Changes in Bone Markers in Youth with PWS. 61
32847020 2020
9
Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders. 61
32729070 2020
10
The Potential Role of Activating the ATP-Sensitive Potassium Channel in the Treatment of Hyperphagic Obesity. 61
32326226 2020
11
Circulating microRNA Associated to Different Stages of Liver Steatosis in Prader-Willi Syndrome and Non-Syndromic Obesity. 61
32295264 2020
12
Brachial-ankle pulse wave velocity in healthy Japanese adolescents: reference values for the assessment of arterial stiffness and cardiovascular risk profiles. 61
31853039 2020
13
Determination of the melanocortin-4 receptor structure identifies Ca2+ as a cofactor for ligand binding. 61
32327598 2020
14
Increasing physical activity in adult women with Prader-Willi syndrome: A transferability study. 61
31578803 2020
15
Early Onset Non-Syndromic Obesity- Is Next Generation Sequencing the Next in Agenda? 61
31925712 2020
16
Cardiovascular Implications in Idiopathic and Syndromic Obesity in Childhood: An Update. 61
32582026 2020
17
Obesity-associated mutant melanocortin-4 receptors with normal Gαs coupling frequently exhibit other discoverable pharmacological and biochemical defects. 61
31529534 2019
18
Mendelian non-syndromic obesity. 61
31577261 2019
19
Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability. 61
31150357 2019
20
A comprehensive diagnostic approach to detect underlying causes of obesity in adults. 61
30821060 2019
21
Laparoscopic sleeve gastrectomy in an adolescent with Prader-Willi syndrome: psychosocial implications. 61
30703571 2019
22
A Candidate-Gene Approach Identifies Novel Associations Between Common Variants in/Near Syndromic Obesity Genes and BMI in Pediatric and Adult European Populations. 61
30692245 2019
23
MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature. 61
30796847 2019
24
Clinical, molecular genetics and therapeutic aspects of syndromic obesity. 61
29700824 2019
25
Differences in circulating microRNA signature in Prader-Willi syndrome and non-syndromic obesity. 61
30352401 2018
26
A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability. 61
30055078 2018
27
The relationship between metabolic syndrome, cytokines and physical activity in obese youth with and without Prader-Willi syndrome. 61
29975666 2018
28
Laparoscopic sleeve gastrectomy in adolescents with or without syndromic obesity: two years follow-up. 61
28070780 2018
29
[Obesity treatment with liraglutide in a patient with Prader-Willi syndrome: a case report]. 61
29974787 2018
30
GHRH plus arginine and arginine administration evokes the same ratio of GH isoforms levels in young patients with Prader-Willi syndrome. 61
29217318 2018
31
TUB gene expression in hypothalamus and adipose tissue and its association with obesity in humans. 61
28852204 2018
32
A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome. 61
29079548 2018
33
New Insights Regarding Genetic Aspects of Childhood Obesity: A Minireview. 61
30338250 2018
34
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity. 61
29441128 2018
35
Prader Willi Syndrome - A Common Epigenetic Cause of Syndromic Obesity. 61
28971315 2017
36
Features of nonalcoholic steatohepatitis in severely obese children and adolescents undergoing sleeve gastrectomy. 61
28600116 2017
37
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus. 61
28859103 2017
38
A systematic review of genetic syndromes with obesity. 61
28346723 2017
39
Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity. 61
27665122 2017
40
Concordance of bioactive vs. total immunoreactive serum leptin levels in children with severe early onset obesity. 61
28542631 2017
41
[The genetics of obesity - pathogenetic, clinical and diagnostic aspects]. 61
29077558 2017
42
Genetics of obesity. 61
28697287 2017
43
Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS. 61
27789403 2016
44
Deactivation of the left dorsolateral prefrontal cortex in Prader-Willi syndrome after meal consumption. 61
27121248 2016
45
60 YEARS OF POMC: Regulation of feeding and energy homeostasis by α-MSH. 61
26939593 2016
46
Copy number variation (CNV) analysis and mutation analysis of the 6q14.1-6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients. 61
26795956 2016
47
Single Gene and Syndromic Causes of Obesity: Illustrative Examples. 61
27288824 2016
48
Rare Genetic Forms of Obesity: Clinical Approach and Current Treatments in 2016. 61
27241181 2016
49
MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions. 61
27822311 2016
50
Examination of Global Methylation and Targeted Imprinted Genes in Prader-Willi Syndrome. 61
28111641 2016

Variations for Syndromic Obesity

Expression for Syndromic Obesity

Search GEO for disease gene expression data for Syndromic Obesity.

Pathways for Syndromic Obesity

GO Terms for Syndromic Obesity

Biological processes related to Syndromic Obesity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 9.5 POMC LEPR LEP
2 phagocytosis GO:0006909 9.48 LEPR LEP
3 regulation of blood pressure GO:0008217 9.46 POMC LEP
4 negative regulation of autophagy GO:0010507 9.43 LEPR LEP
5 T cell differentiation GO:0030217 9.4 LEPR LEP
6 energy reserve metabolic process GO:0006112 9.37 LEPR LEP
7 leptin-mediated signaling pathway GO:0033210 9.26 LEPR LEP
8 sexual reproduction GO:0019953 9.16 LEPR LEP
9 bone growth GO:0098868 8.96 LEPR LEP
10 regulation of bone remodeling GO:0046850 8.62 LEPR LEP

Molecular functions related to Syndromic Obesity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 8.8 POMC LEPROT LEP

Sources for Syndromic Obesity

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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