MCID: BDY019
MIFTS: 42

Body Mass Index Quantitative Trait Locus 18

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Body Mass Index Quantitative Trait Locus 18

MalaCards integrated aliases for Body Mass Index Quantitative Trait Locus 18:

Name: Body Mass Index Quantitative Trait Locus 18 57 29 6 40
Obesity 57 73
Obesity, Susceptibility to, Bmiq18 57
Obesity, Susceptibility to 57
Obesity Bmiq18 57
Bmiq18 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
body mass index quantitative trait locus 18:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615457
MedGen 42 C3714940
SNOMED-CT via HPO 69 263681008 414915002 414916001
UMLS 73 C0028754

Summaries for Body Mass Index Quantitative Trait Locus 18

MalaCards based summary : Body Mass Index Quantitative Trait Locus 18, also known as obesity, is related to obesity, early-onset, with adrenal insufficiency and red hair and body mass index quantitative trait locus 11, and has symptoms including symptoms, high weight and obesity, metabolically benign. An important gene associated with Body Mass Index Quantitative Trait Locus 18 is MRAP2 (Melanocortin 2 Receptor Accessory Protein 2). Affiliated tissues include liver, heart and kidney, and related phenotype is obesity.

Description from OMIM: 615457

Related Diseases for Body Mass Index Quantitative Trait Locus 18

Diseases in the Body Mass Index Quantitative Trait Locus 11 family:

Body Mass Index Quantitative Trait Locus 9 Body Mass Index Quantitative Trait Locus 8
Body Mass Index Quantitative Trait Locus 1 Body Mass Index Quantitative Trait Locus 2
Body Mass Index Quantitative Trait Locus 3 Body Mass Index Quantitative Trait Locus 4
Body Mass Index Quantitative Trait Locus 10 Body Mass Index Quantitative Trait Locus 7
Body Mass Index Quantitative Trait Locus 5 Body Mass Index Quantitative Trait Locus 6
Body Mass Index Quantitative Trait Locus 12 Body Mass Index Quantitative Trait Locus 13
Body Mass Index Quantitative Trait Locus 14 Body Mass Index Quantitative Trait Locus 15
Body Mass Index Quantitative Trait Locus 18 Body Mass Index Quantitative Trait Locus 19

Diseases related to Body Mass Index Quantitative Trait Locus 18 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1087)
# Related Disease Score Top Affiliating Genes
1 obesity, early-onset, with adrenal insufficiency and red hair 12.5
2 body mass index quantitative trait locus 11 12.5
3 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 12.4
4 obesity-hypoventilation syndrome 12.4
5 morbid obesity and spermatogenic failure 12.4
6 abdominal obesity-metabolic syndrome 1 12.4
7 spastic paraplegia, intellectual disability, nystagmus, and obesity 12.3
8 retinal dystrophy and obesity 12.3
9 abdominal obesity-metabolic syndrome 3 12.3
10 morbid obesity 12.3
11 developmental delay, intellectual disability, obesity, and dysmorphic features 12.3
12 obesity, hyperphagia, and developmental delay 12.3
13 obesity due to congenital leptin deficiency 12.2
14 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 12.2
15 aniridia - ptosis - intellectual disability - familial obesity 12.2
16 abdominal obesity-metabolic syndrome quantitative trait locus 2 12.2
17 hydrocephalus obesity hypogonadism 12.2
18 x-linked intellectual disability - short stature - obesity 12.2
19 leptin receptor deficiency 12.2
20 intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity 12.1
21 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 12.1
22 leptin deficiency or dysfunction 12.1
23 severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency 12.0
24 obesity due to sim1 deficiency 12.0
25 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia 12.0
26 coloboma-obesity-hypogenitalism-mental retardation syndrome 12.0
27 body mass index quantitative trait locus 19 12.0
28 prolactin deficiency with obesity and enlarged testes 11.9
29 short stature-obesity syndrome 11.9
30 mental retardation, obesity, mandibular prognathism, and eye and skin anomalies 11.9
31 cohen syndrome 11.9
32 congenital leptin deficiency 11.9
33 momo syndrome 11.9
34 x-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome 11.9
35 intellectual disability-seizures-macrocephaly-obesity syndrome 11.9
36 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 11.9
37 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome 11.9
38 wilson-turner x-linked mental retardation syndrome 11.8
39 proprotein convertase 1/3 deficiency 11.8
40 ayazi syndrome 11.8
41 rohhad 11.8
42 mehmo syndrome 11.7
43 body mass index quantitative trait locus 14 11.7
44 chops syndrome 11.7
45 body mass index quantitative trait locus 10 11.6
46 hyperostosis frontalis interna 11.6
47 prader-willi syndrome 11.5
48 fatty liver disease 11.5
49 coenzyme q10 deficiency, primary, 2 11.5
50 man1b1-cdg 11.5

Graphical network of the top 20 diseases related to Body Mass Index Quantitative Trait Locus 18:



Diseases related to Body Mass Index Quantitative Trait Locus 18

Symptoms & Phenotypes for Body Mass Index Quantitative Trait Locus 18

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
obesity, severe


Clinical features from OMIM:

615457

Human phenotypes related to Body Mass Index Quantitative Trait Locus 18:

32
# Description HPO Frequency HPO Source Accession
1 obesity 32 HP:0001513

UMLS symptoms related to Body Mass Index Quantitative Trait Locus 18:


symptoms, high weight, obesity, metabolically benign, monogenic obesity

Drugs & Therapeutics for Body Mass Index Quantitative Trait Locus 18

Genetic Tests for Body Mass Index Quantitative Trait Locus 18

Genetic tests related to Body Mass Index Quantitative Trait Locus 18:

# Genetic test Affiliating Genes
1 Body Mass Index Quantitative Trait Locus 18 29 MRAP2

Anatomical Context for Body Mass Index Quantitative Trait Locus 18

MalaCards organs/tissues related to Body Mass Index Quantitative Trait Locus 18:

41
Liver, Heart, Kidney, Breast, Bone, Prostate, Adipocyte

Publications for Body Mass Index Quantitative Trait Locus 18

Articles related to Body Mass Index Quantitative Trait Locus 18:

(show top 50) (show all 998)
# Title Authors Year
1
Obesity and adiposity indicators in asthma and allergic rhinitis in children. ( 30507714 )
2019
2
Asthma, obesity and targeted interventions: an update. ( 30480592 )
2019
3
Obesity and adult asthma: diagnostic and management challenges. ( 30394901 )
2019
4
Obesity and childhood asthma. ( 30334826 )
2019
5
Fatty liver disease: is it nonalcoholic fatty liver disease or obesity-associated fatty liver disease? ( 30507644 )
2019
6
The deubiquitinating enzyme USP19 modulates adipogenesis and potentiates high-fat-diet-induced obesity and glucose intolerance in mice. ( 30386869 )
2019
7
The role of obesity in inflammatory bowel disease. ( 30352258 )
2019
8
DNA methylation and obesity in survivors of pediatric acute lymphoblastic leukemia: A report from the Childhood Cancer Survivor Study. ( 30382603 )
2019
9
Modeling the Mixed Effects of Living Standard and Consumer-oriented Behavior on Obesity. ( 30522575 )
2019
10
The Health Risks of Obesity Have Been Exaggerated. ( 30550506 )
2019
11
The Health Risks of Obesity Have Not Been Exaggerated. ( 30550507 )
2019
12
Adiponectin homolog novel osmotin protects obesity/diabetes-induced NAFLD by upregulating AdipoRs/PPARα signaling in ob/ob and db/db transgenic mouse models. ( 30473057 )
2019
13
The influence of high-intensity interval training on anthropometric variables of adults with overweight or obesity: a systematic review and network meta-analysis. ( 30450794 )
2019
14
Childhood Obesity and the Metabolic Syndrome. ( 30454749 )
2019
15
Sarcopenia and obesity. ( 30461451 )
2019
16
Fructose at the crossroads of the metabolic syndrome and obesity epidemics. ( 30468651 )
2019
17
A sweeping highlight of the literature examining social status, eating behavior, and obesity. ( 30470510 )
2019
18
Process evaluation of a cluster-randomised controlled trial of multi-component weight management programme in adults with intellectual disabilities and obesity. ( 30417575 )
2019
19
Corrigendum to "Effects of aerobic training, resistance training, or both on brain-derived neurotrophic factor in adolescents with obesity: The hearty randomized controlled trial" Physiology & Behavior, Volume 191, 1 July 2018, Pages 138-145. ( 30428994 )
2019
20
Building and Sustaining Community Capacity to Address Childhood Obesity: A 3-Year Mixed-Methods Case Study of a Community-Academic Advisory Board. ( 30431470 )
2019
21
Obesity-Related Foot Pain: Diagnosis and Surgical Planning. ( 30446041 )
2019
22
Is there a causal relationship between obesity and puberty? ( 30446301 )
2019
23
Obesity and Disparities in Human Papillomavirus Vaccination for U.S. Adolescent Girls and Young Women. ( 30446328 )
2019
24
The Role of Time Use Behaviors in the Risk of Obesity among Low-Income Mothers. ( 30446329 )
2019
25
The Obesity Epidemic and Bariatric Trends. ( 30447821 )
2019
26
Identification of nafamostat mesilate as an inhibitor of the fat mass and obesity-associated protein (FTO) demethylase activity. ( 30393114 )
2019
27
Muscat Bailey A grape stalk extract ameliorates high-fat diet‑induced obesity by downregulating PPARγ and C/EPBα in mice. ( 30365044 )
2019
28
Anti-obesity effects of Diospyros lotus leaf extract in mice with high-fat diet-induced obesity. ( 30365061 )
2019
29
Examining the pattern of new foods and beverages consumed during obesity treatment to inform strategies for self-monitoring intake. ( 30326244 )
2019
30
Dietary behaviors mediate the association between food insecurity and obesity among socioeconomically disadvantaged youth. ( 30327150 )
2019
31
ERβ activation in obesity improves whole body metabolism via adipose tissue function and enhanced mitochondria biogenesis. ( 30342056 )
2019
32
Antidiabetic activities of chloroform fraction of Anthocleista vogelii Planch root bark in rats with diet- and alloxan-induced obesity-diabetes. ( 30342966 )
2019
33
Therapeutic and lifestyle approaches to obesity in older persons. ( 30346314 )
2019
34
Glucagon-like peptide-2 reduces the obesity-associated inflammation in the brain. ( 30347266 )
2019
35
Obesity and stones. ( 30308572 )
2019
36
ASSOCIATION BETWEEN ACANTHOSIS NIGRICANS AND OTHER CARDIOMETABOLIC RISK FACTORS IN CHILDREN AND ADOLESCENTS WITH OVERWEIGHT AND OBESITY. ( 30365811 )
2018
37
The association between obesity and outcomes in acute pancreatitis: an individual patient data meta-analysis. ( 30399003 )
2018
38
Obesity and healthy aging: social, functional and mental well-being among older Canadians. ( 30540410 )
2018
39
Abdominal Obesity and Mobility Disability in Older Adults: A 4-Year Follow-Up the International Mobility in Aging Study. ( 30498831 )
2018
40
Sympathetic nervous system as a target for aging and obesity-related cardiovascular diseases. ( 30519806 )
2018
41
Aging Modulates the Influence of Arginase on Endothelial Dysfunction in Obesity. ( 30354211 )
2018
42
Role of Leptin/Osteopontin Axis in the Function of Eosinophils in Allergic Rhinitis with Obesity. ( 30473626 )
2018
43
AA amyloidosis associated with morbid obesity (clinical case). ( 30527964 )
2018
44
Zebrafish Mutants Carrying Leptin a (lepa) Gene Deficiency Display Obesity, Anxiety, Less Aggression and Fear, and Circadian Rhythm and Color Preference Dysregulation. ( 30551684 )
2018
45
Relationship between anxiety, depression, sex, obesity, and internet addiction in Chinese adolescents: A short-term longitudinal study. ( 30553156 )
2018
46
Comparing anxiety and depression to obesity and smoking as predictors of major medical illnesses and somatic symptoms. ( 30556708 )
2018
47
Brain tumor necrosis factor-α mediates anxiety-like behavior in a mouse model of severe obesity. ( 30508579 )
2018
48
Enhanced anxiety-like behavior emerges with weight gain in male and female obesity-susceptible rats. ( 30521928 )
2018
49
Meanings of flower therapy for anxiety in people with overweight or obesity. ( 30365799 )
2018
50
The non-enzymatic glycation of LDL proteins results in biochemical alterations - A correlation study of Apo B100-AGE with obesity and rheumatoid arthritis. ( 30312697 )
2018

Variations for Body Mass Index Quantitative Trait Locus 18

ClinVar genetic disease variations for Body Mass Index Quantitative Trait Locus 18:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MRAP2 NM_138409.3(MRAP2): c.70G> T (p.Glu24Ter) single nucleotide variant risk factor rs587777046 GRCh37 Chromosome 6, 84765107: 84765107
2 MRAP2 NM_138409.3(MRAP2): c.70G> T (p.Glu24Ter) single nucleotide variant risk factor rs587777046 GRCh38 Chromosome 6, 84055388: 84055388

Expression for Body Mass Index Quantitative Trait Locus 18

Search GEO for disease gene expression data for Body Mass Index Quantitative Trait Locus 18.

Pathways for Body Mass Index Quantitative Trait Locus 18

GO Terms for Body Mass Index Quantitative Trait Locus 18

Sources for Body Mass Index Quantitative Trait Locus 18

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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