MCID: SYN116
MIFTS: 29

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 hypogonadism. 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. Affiliated tissues include liver, cortex and kidney, 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 179)
# Related Disease Score Top Affiliating Genes
1 body mass index quantitative trait locus 12 31.3 PCSK1 LOC101929710
2 hypogonadism 29.6 PCSK1 LEPR LEP
3 genetic obesity 29.6 LEPR LEP
4 glucose intolerance 29.6 POMC LEPR LEP
5 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 29.3 SIM1 PCSK1
6 bardet-biedl syndrome 29.2 SIM1 POMC LEPR LEP
7 body mass index quantitative trait locus 11 29.1 SIM1 POMC PCSK1 LEPROT LEPR LEP
8 prader-willi syndrome 28.3 SIM1 POMC PCSK1 LOC106728418 LEPR LEP
9 leptin deficiency or dysfunction 27.8 SIM1 POMC PCSK1 LOC106728418 LEPR LEP
10 genetic non-syndromic obesity 12.1
11 obesity-hypoventilation syndrome 11.7
12 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 11.3
13 cohen syndrome 11.0
14 camera-marugo-cohen syndrome 11.0
15 morbid obesity and spermatogenic failure 11.0
16 body mass index quantitative trait locus 9 10.6
17 body mass index quantitative trait locus 8 10.6
18 body mass index quantitative trait locus 4 10.6
19 body mass index quantitative trait locus 10 10.6
20 body mass index quantitative trait locus 7 10.6
21 body mass index quantitative trait locus 18 10.6
22 body mass index quantitative trait locus 19 10.6
23 body mass index quantitative trait locus 20 10.6
24 body mass index quantitative trait locus 14 10.6
25 polycystic ovary syndrome 10.3
26 proprotein convertase 1/3 deficiency 10.3 PCSK1 LOC101929710
27 hypothalamic obesity 10.2 LEPR LEP
28 lipoblastoma 10.2 LEPR LEP
29 hypoadrenalism 10.2 POMC PCSK1
30 sleep apnea 10.2
31 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.2 POMC LEP
32 sick building syndrome 10.1 POMC LEP
33 hypothalamic disease 10.1 POMC LEP
34 lipid metabolism disorder 10.1
35 atypical depressive disorder 10.1 POMC LEP
36 aromatase excess syndrome 10.1 POMC LEP
37 intracranial hypertension, idiopathic 10.1 POMC LEP
38 leptin receptor deficiency 10.1 LEPROT LEPR
39 prediabetes syndrome 10.1 LEPR LEP
40 sex development disorder 10.1 POMC LEP
41 persistent fetal circulation syndrome 10.1 POMC LEP
42 adult syndrome 10.1 POMC LEP
43 adrenal cortex disease 10.0 POMC LEP
44 hypercholesterolemia, familial, 4 10.0 POMC LEP
45 severe pre-eclampsia 10.0 LEPR LEP
46 gynecomastia 10.0 POMC LEP
47 apnea, obstructive sleep 10.0
48 hyperandrogenism 10.0
49 respiratory failure 9.9
50 hyperinsulinism 9.9

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:

45
# 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phenotypic Characterization and Array CGH Analysis in Patients With Syndromic Obesity of Unknown Etiology Completed NCT01043198
2 Increased Expression of Adiponectin Receptor 2 in the Mononuclear Cells in Children With Prader-Willi Syndrome Completed NCT00800852
3 Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism Completed NCT02411461
4 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing Recruiting NCT02510989

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
Liver, Cortex, Kidney, Hypothalamus, Skin, Testes, Prefrontal Cortex

Publications for Syndromic Obesity

Articles related to Syndromic Obesity:

(show top 50) (show all 74)
# Title Authors PMID Year
1
Increasing physical activity in adult women with Prader-Willi syndrome: A transferability study. 61
31578803 2020
2
Early Onset Non-Syndromic Obesity- Is Next Generation Sequencing the Next in Agenda? 61
31925712 2020
3
Brachial-ankle pulse wave velocity in healthy Japanese adolescents: reference values for the assessment of arterial stiffness and cardiovascular risk profiles. 61
31853039 2019
4
Obesity-associated mutant melanocortin-4 receptors with normal Gαs coupling frequently exhibit other discoverable pharmacological and biochemical defects. 61
31529534 2019
5
Mendelian non-syndromic obesity. 61
31577261 2019
6
Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability. 61
31150357 2019
7
A comprehensive diagnostic approach to detect underlying causes of obesity in adults. 61
30821060 2019
8
Laparoscopic sleeve gastrectomy in an adolescent with Prader-Willi syndrome: psychosocial implications. 61
30703571 2019
9
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
10
MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature. 61
30796847 2019
11
Clinical, molecular genetics and therapeutic aspects of syndromic obesity. 61
29700824 2019
12
Differences in circulating microRNA signature in Prader-Willi syndrome and non-syndromic obesity. 61
30352401 2018
13
A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability. 61
30055078 2018
14
The relationship between metabolic syndrome, cytokines and physical activity in obese youth with and without Prader-Willi syndrome. 61
29975666 2018
15
Laparoscopic sleeve gastrectomy in adolescents with or without syndromic obesity: two years follow-up. 61
28070780 2018
16
[Obesity treatment with liraglutide in a patient with Prader-Willi syndrome: a case report]. 61
29974787 2018
17
GHRH plus arginine and arginine administration evokes the same ratio of GH isoforms levels in young patients with Prader-Willi syndrome. 61
29217318 2018
18
TUB gene expression in hypothalamus and adipose tissue and its association with obesity in humans. 61
28852204 2018
19
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
20
New Insights Regarding Genetic Aspects of Childhood Obesity: A Minireview. 61
30338250 2018
21
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity. 61
29441128 2018
22
Prader Willi Syndrome - A Common Epigenetic Cause of Syndromic Obesity. 61
28971315 2017
23
Features of nonalcoholic steatohepatitis in severely obese children and adolescents undergoing sleeve gastrectomy. 61
28600116 2017
24
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus. 61
28859103 2017
25
A systematic review of genetic syndromes with obesity. 61
28346723 2017
26
Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity. 61
27665122 2017
27
Genetics of obesity. 61
28697287 2017
28
[The genetics of obesity - pathogenetic, clinical and diagnostic aspects]. 61
29077558 2017
29
Concordance of bioactive vs. total immunoreactive serum leptin levels in children with severe early onset obesity. 61
28542631 2017
30
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
31
Deactivation of the left dorsolateral prefrontal cortex in Prader-Willi syndrome after meal consumption. 61
27121248 2016
32
60 YEARS OF POMC: Regulation of feeding and energy homeostasis by α-MSH. 61
26939593 2016
33
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
34
MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions. 61
27822311 2016
35
Rare Genetic Forms of Obesity: Clinical Approach and Current Treatments in 2016. 61
27241181 2016
36
Examination of Global Methylation and Targeted Imprinted Genes in Prader-Willi Syndrome. 61
28111641 2016
37
Single Gene and Syndromic Causes of Obesity: Illustrative Examples. 61
27288824 2016
38
Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome. 61
26323055 2015
39
Cytokine Responses to Acute Intermittent Aerobic Exercise in Children With Prader-Willi Syndrome and Nonsyndromic Obesity. 61
26181653 2015
40
[Detection and treatment of respiratory disorders in obese children: Obstructive sleep apnea syndrome and obesity hypoventilation syndrome]. 61
26251053 2015
41
Unaltered ratio of circulating levels of growth hormone/GH isoforms in adults with Prader-Willi syndrome after GHRH plus arginine administration. 61
26059749 2015
42
Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity. 61
26279650 2015
43
Hormonal and metabolic responses to endurance exercise in children with Prader-Willi syndrome and non-syndromic obesity. 61
25524794 2015
44
[Monogenic and syndromic symptoms of morbid obesity. Rare but important]. 61
25630806 2015
45
Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation. 61
26203302 2015
46
Treatment of body composition changes in obese and overweight older adults: insight into the phenotype of sarcopenic obesity. 61
24952725 2014
47
Genetic risk profiles for a childhood with severe overweight. 61
23629956 2014
48
New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity. 61
24782328 2014
49
Genetic association analysis of 30 genes related to obesity in a European American population. 61
23900445 2014
50
Syndromic obesity: clinical implications of a correct diagnosis. 61
24690487 2014

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 sexual reproduction GO:0019953 9.26 LEPR LEP
8 leptin-mediated signaling pathway GO:0033210 9.16 LEPR LEP
9 regulation of bone remodeling GO:0046850 8.96 LEPR LEP
10 bone growth GO:0098868 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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