MCID: SYN116
MIFTS: 30

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 59

Classifications:



External Ids:

Orphanet 59 ORPHA240371

Summaries for Syndromic Obesity

MalaCards based summary : Syndromic Obesity is related to body mass index quantitative trait locus 12 and sleep apnea. An important gene associated with Syndromic Obesity is PCSK1 (Proprotein Convertase Subtilisin/Kexin Type 1), and among its related pathways/superpathways are Peptide hormone metabolism and Incretin synthesis, secretion, and inactivation. Affiliated tissues include hypothalamus, skin and testes, and related phenotypes are adipose tissue and behavior/neurological

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 151)
# Related Disease Score Top Affiliating Genes
1 body mass index quantitative trait locus 12 31.3 PCSK1 LOC101929710
2 sleep apnea 30.0 LEPR LEP
3 fatty liver disease 29.4 LEPR LEP
4 bardet-biedl syndrome 29.1 POMC LEPR LEP
5 glucose intolerance 29.0 LEPR LEP
6 prader-willi syndrome 28.2 SIM1 POMC PCSK1 LEPR LEP
7 body mass index quantitative trait locus 11 27.8 SIM1 POMC PCSK1 LEPROT LEPR LEP
8 genetic non-syndromic obesity 12.1
9 obesity-hypoventilation syndrome 11.7
10 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 11.3
11 cohen syndrome 11.0
12 camera-marugo-cohen syndrome 11.0
13 morbid obesity and spermatogenic failure 11.0
14 body mass index quantitative trait locus 9 10.6
15 body mass index quantitative trait locus 8 10.6
16 body mass index quantitative trait locus 4 10.6
17 body mass index quantitative trait locus 10 10.6
18 body mass index quantitative trait locus 7 10.6
19 body mass index quantitative trait locus 14 10.6
20 body mass index quantitative trait locus 18 10.6
21 body mass index quantitative trait locus 19 10.6
22 body mass index quantitative trait locus 20 10.6
23 polycystic ovary syndrome 10.3
24 proprotein convertase 1/3 deficiency 10.3 PCSK1 LOC101929710
25 lipid metabolism disorder 10.1
26 lipoblastoma 10.1 LEPR LEP
27 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.0 POMC LEP
28 hypoadrenalism 10.0 POMC PCSK1
29 hyperinsulinism 10.0
30 body mass index quantitative trait locus 1 10.0
31 hyperandrogenism 10.0
32 sick building syndrome 10.0 POMC LEP
33 severe pre-eclampsia 10.0 LEPR LEP
34 apnea, obstructive sleep 9.9
35 hypogonadism 9.9
36 hypogonadotropism 9.9
37 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 9.8 POMC LEPR
38 down syndrome 9.8
39 alstrom syndrome 9.8
40 infertility 9.8
41 pancreas disease 9.8 POMC LEP
42 hypertriglyceridemia, familial 9.8
43 leptin deficiency or dysfunction 9.8
44 alacrima, achalasia, and mental retardation syndrome 9.8
45 anovulation 9.8
46 hyperglycemia 9.8
47 irritable bowel syndrome 9.8
48 hypotonia 9.8
49 amenorrhea 9.8 POMC LEP
50 leptin receptor deficiency 9.8 LEPROT LEPR

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 9.73 LEP LEPR LEPROT PCSK1 POMC SIM1
2 behavior/neurological MP:0005386 9.55 LEP LEPR PCSK1 POMC SIM1
3 endocrine/exocrine gland MP:0005379 9.35 LEP LEPR PCSK1 POMC SIM1
4 renal/urinary system MP:0005367 8.92 LEP LEPR 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 Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism Completed NCT02411461
3 Increased Expression of Adiponectin Receptor 2 in the Mononuclear Cells in Children With Prader-Willi Syndrome Completed NCT00800852
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:

41
Hypothalamus, Skin, Testes, Cortex, Prefrontal Cortex

Publications for Syndromic Obesity

Articles related to Syndromic Obesity:

(show top 50) (show all 69)
# Title Authors PMID Year
1
Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability. 38
31150357 2019
2
A comprehensive diagnostic approach to detect underlying causes of obesity in adults. 38
30821060 2019
3
Laparoscopic sleeve gastrectomy in an adolescent with Prader-Willi syndrome: psychosocial implications. 38
30703571 2019
4
MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature. 38
30796847 2019
5
A Candidate-Gene Approach Identifies Novel Associations Between Common Variants in/Near Syndromic Obesity Genes and BMI in Pediatric and Adult European Populations. 38
30692245 2019
6
Clinical, molecular genetics and therapeutic aspects of syndromic obesity. 38
29700824 2019
7
Differences in circulating microRNA signature in Prader-Willi syndrome and non-syndromic obesity. 38
30352401 2018
8
A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability. 38
30055078 2018
9
The relationship between metabolic syndrome, cytokines and physical activity in obese youth with and without Prader-Willi syndrome. 38
29975666 2018
10
Laparoscopic sleeve gastrectomy in adolescents with or without syndromic obesity: two years follow-up. 38
28070780 2018
11
[Obesity treatment with liraglutide in a patient with Prader-Willi syndrome: a case report]. 38
29974787 2018
12
GHRH plus arginine and arginine administration evokes the same ratio of GH isoforms levels in young patients with Prader-Willi syndrome. 38
29217318 2018
13
TUB gene expression in hypothalamus and adipose tissue and its association with obesity in humans. 38
28852204 2018
14
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. 38
29079548 2018
15
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity. 38
29441128 2018
16
New Insights Regarding Genetic Aspects of Childhood Obesity: A Minireview. 38
30338250 2018
17
Prader Willi Syndrome - A Common Epigenetic Cause of Syndromic Obesity. 38
28971315 2017
18
Features of nonalcoholic steatohepatitis in severely obese children and adolescents undergoing sleeve gastrectomy. 38
28600116 2017
19
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus. 38
28859103 2017
20
A systematic review of genetic syndromes with obesity. 38
28346723 2017
21
Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity. 38
27665122 2017
22
[The genetics of obesity - pathogenetic, clinical and diagnostic aspects]. 38
29077558 2017
23
Genetics of obesity. 38
28697287 2017
24
Concordance of bioactive vs. total immunoreactive serum leptin levels in children with severe early onset obesity. 38
28542631 2017
25
Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS. 38
27789403 2016
26
Deactivation of the left dorsolateral prefrontal cortex in Prader-Willi syndrome after meal consumption. 38
27121248 2016
27
60 YEARS OF POMC: Regulation of feeding and energy homeostasis by α-MSH. 38
26939593 2016
28
Copy number variation (CNV) analysis and mutation analysis of the 6q14.1-6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients. 38
26795956 2016
29
MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions. 38
27822311 2016
30
Rare Genetic Forms of Obesity: Clinical Approach and Current Treatments in 2016. 38
27241181 2016
31
Examination of Global Methylation and Targeted Imprinted Genes in Prader-Willi Syndrome. 38
28111641 2016
32
Single Gene and Syndromic Causes of Obesity: Illustrative Examples. 38
27288824 2016
33
Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome. 38
26323055 2015
34
Cytokine Responses to Acute Intermittent Aerobic Exercise in Children With Prader-Willi Syndrome and Nonsyndromic Obesity. 38
26181653 2015
35
[Detection and treatment of respiratory disorders in obese children: Obstructive sleep apnea syndrome and obesity hypoventilation syndrome]. 38
26251053 2015
36
Unaltered ratio of circulating levels of growth hormone/GH isoforms in adults with Prader-Willi syndrome after GHRH plus arginine administration. 38
26059749 2015
37
Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity. 38
26279650 2015
38
Hormonal and metabolic responses to endurance exercise in children with Prader-Willi syndrome and non-syndromic obesity. 38
25524794 2015
39
[Monogenic and syndromic symptoms of morbid obesity. Rare but important]. 38
25630806 2015
40
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. 38
26203302 2015
41
Treatment of body composition changes in obese and overweight older adults: insight into the phenotype of sarcopenic obesity. 38
24952725 2014
42
Genetic risk profiles for a childhood with severe overweight. 38
23629956 2014
43
New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity. 38
24782328 2014
44
Genetic association analysis of 30 genes related to obesity in a European American population. 38
23900445 2014
45
Syndromic obesity: clinical implications of a correct diagnosis. 38
24690487 2014
46
The Relationship between Subnormal Peak-Stimulated Growth Hormone Levels and Auxological Characteristics in Obese Children. 38
24723909 2014
47
Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes. 38
25411582 2014
48
A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder. 38
25126114 2014
49
Is genetic testing of value in predicting and treating obesity? 38
24316784 2013
50
Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants. 38
23401328 2013

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

Cellular components related to Syndromic Obesity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 secretory granule lumen GO:0034774 8.62 POMC PCSK1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cold-induced thermogenesis GO:0120162 9.51 LEPR LEP
2 cholesterol metabolic process GO:0008203 9.49 LEPR LEP
3 phagocytosis GO:0006909 9.48 LEPR LEP
4 regulation of blood pressure GO:0008217 9.46 POMC LEP
5 negative regulation of autophagy GO:0010507 9.43 LEPR LEP
6 glucose homeostasis GO:0042593 9.43 POMC LEPR LEP
7 T cell differentiation GO:0030217 9.4 LEPR LEP
8 energy reserve metabolic process GO:0006112 9.37 LEPR LEP
9 sexual reproduction GO:0019953 9.32 LEPR LEP
10 leptin-mediated signaling pathway GO:0033210 9.16 LEPR LEP
11 regulation of bone remodeling GO:0046850 8.96 LEPR LEP
12 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 hormone activity GO:0005179 8.96 POMC LEP
2 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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