MCID: BDY020
MIFTS: 43

Body Mass Index Quantitative Trait Locus 19

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

Aliases & Classifications for Body Mass Index Quantitative Trait Locus 19

MalaCards integrated aliases for Body Mass Index Quantitative Trait Locus 19:

Name: Body Mass Index Quantitative Trait Locus 19 58 6
Obesity 58 74
Obesity, Susceptibility to, Bmiq19 58
Obesity, Susceptibility to 58
Obesity Bmiq19 58
Bmiq19 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset of hyperphagia reported between 6 months and 2 years of age
the oldest reported patient underwent menarche at age 14 years but had no subsequent menstrual cycles


Classifications:



External Ids:

OMIM 58 617885
UMLS 74 C0028754

Summaries for Body Mass Index Quantitative Trait Locus 19

OMIM : 58 Patients with biallelic mutations in the ADCY3 gene show hyperphagia within the first 2 years of life and develop severe obesity. Other features include hyposmia or anosmia, and some patients exhibit mild to moderate intellectual disability (Saeed et al., 2018). (617885)

MalaCards based summary : Body Mass Index Quantitative Trait Locus 19, 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 19 is ADCY3 (Adenylate Cyclase 3). Affiliated tissues include liver, breast and adipocyte.

Related Diseases for Body Mass Index Quantitative Trait Locus 19

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 19 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1182)
# 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 obesity-hypoventilation syndrome 12.4
4 morbid obesity and spermatogenic failure 12.4
5 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 12.4
6 abdominal obesity-metabolic syndrome 1 12.4
7 spastic paraplegia, intellectual disability, nystagmus, and obesity 12.4
8 retinal dystrophy and obesity 12.4
9 morbid obesity 12.4
10 abdominal obesity-metabolic syndrome 3 12.4
11 developmental delay, intellectual disability, obesity, and dysmorphic features 12.3
12 obesity, hyperphagia, and developmental delay 12.3
13 hypothalamic obesity 12.3
14 x-linked intellectual disability - short stature - obesity 12.3
15 obesity due to congenital leptin deficiency 12.3
16 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 12.2
17 aniridia - ptosis - intellectual disability - familial obesity 12.2
18 abdominal obesity-metabolic syndrome quantitative trait locus 2 12.2
19 leptin receptor deficiency 12.2
20 hydrocephalus obesity hypogonadism 12.2
21 intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity 12.2
22 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 12.1
23 leptin deficiency or dysfunction 12.1
24 severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency 12.1
25 obesity due to sim1 deficiency 12.1
26 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia 12.0
27 coloboma-obesity-hypogenitalism-mental retardation syndrome 12.0
28 cohen syndrome 12.0
29 prolactin deficiency with obesity and enlarged testes 12.0
30 short stature-obesity syndrome 12.0
31 mental retardation, obesity, mandibular prognathism, and eye and skin anomalies 12.0
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 11.9
39 proprotein convertase 1/3 deficiency 11.9
40 ayazi syndrome 11.8
41 body mass index quantitative trait locus 14 11.8
42 body mass index quantitative trait locus 18 11.8
43 rohhad 11.8
44 mehmo syndrome 11.8
45 body mass index quantitative trait locus 10 11.7
46 chops syndrome 11.7
47 diabetes mellitus, noninsulin-dependent 11.6
48 prader-willi syndrome 11.6
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 19:



Diseases related to Body Mass Index Quantitative Trait Locus 19

Symptoms & Phenotypes for Body Mass Index Quantitative Trait Locus 19

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
hyperlipidemia

Endocrine Features:
insulin resistance
elevated insulin levels
elevated leptin levels
elevated cortisol levels

Abdomen Gastrointestinal:
hyperphagia, early-onset

Neurologic Central Nervous System:
intellectual disability, mild to moderate (in some patients)

Head And Neck Nose:
anosmia
hyposmia

Growth Weight:
obesity, early-onset

Neurologic Behavioral Psychiatric Manifestations:
hyperphagia, early-onset

Clinical features from OMIM:

617885

UMLS symptoms related to Body Mass Index Quantitative Trait Locus 19:


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

Drugs & Therapeutics for Body Mass Index Quantitative Trait Locus 19

Genetic Tests for Body Mass Index Quantitative Trait Locus 19

Anatomical Context for Body Mass Index Quantitative Trait Locus 19

MalaCards organs/tissues related to Body Mass Index Quantitative Trait Locus 19:

42
Liver, Breast, Adipocyte, Heart, Brain, Kidney, Bone

Publications for Body Mass Index Quantitative Trait Locus 19

Articles related to Body Mass Index Quantitative Trait Locus 19:

(show top 50) (show all 2736)
# Title Authors Year
1
Untangling the obesity paradox in patients with acute myocardial infarction after primary percutaneous coronary intervention (detail analysis by age). ( 30665801 )
2019
2
Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking. ( 30885219 )
2019
3
Acute pancreatitis and obesity: where is the problem? ( 30888766 )
2019
4
Obesity Aggravates Acute Pancreatitis via Damaging Intestinal Mucosal Barrier and Changing Microbiota Composition in Rats. ( 30635594 )
2019
5
Benefits of improved air quality on aging lungs - Impacts of genetics and obesity. ( 30765509 )
2019
6
Profiling obesity phenotypes and trajectories in older adults of the Quebec NuAge cohort on nutrition and successful aging: A cluster analysis. ( 30695177 )
2019
7
Positive views of aging reduce risk of developing later-life obesity. ( 30705805 )
2019
8
Alpha-1 antitrypsin deficiency liver disease, mutational homogeneity modulated by epigenetic heterogeneity with links to obesity. ( 30681738 )
2019
9
Suboptimal bone microarchitecure in adolescent girls with obesity compared to normal-weight controls and girls with anorexia nervosa. ( 30853658 )
2019
10
Obesity and anxiety symptoms: a systematic review and meta-analysis. ( 30778841 )
2019
11
Obesity-Induced Cellular Senescence Drives Anxiety and Impairs Neurogenesis. ( 30612898 )
2019
12
Lactobacillus sakei Alleviates High-Fat-Diet-Induced Obesity and Anxiety in Mice by Inducing AMPK Activation and SIRT1 Expression and Inhibiting Gut Microbiota-Mediated NF-κB Activation. ( 30636176 )
2019
13
Anxiety in obesity: is neuroinflammation the critical link? ( 30654006 )
2019
14
Comparing anxiety and depression to obesity and smoking as predictors of major medical illnesses and somatic symptoms. ( 30556708 )
2019
15
Enhanced anxiety-like behavior emerges with weight gain in male and female obesity-susceptible rats. ( 30521928 )
2019
16
Perforated appendicitis in the setting of a massive ventral hernia, morbid obesity, and multiple severe comorbidities: challenges in acute management. ( 30740533 )
2019
17
Rural-Urban Variation in Weight Loss Recommendations Among US Older Adults with Arthritis and Obesity. ( 30884784 )
2019
18
Weight loss improves disease activity in patients with psoriatic arthritis and obesity: an interventional study. ( 30635024 )
2019
19
Obesity and Laboratory Aspirin Resistance in High Risk Pregnant Women Treated with Low Dose Aspirin. ( 30786253 )
2019
20
Older age and obesity are associated with increased airway closure in response to methacholine in patients with asthma. ( 30838750 )
2019
21
Exposure to indoor endocrine disrupting chemicals and childhood asthma and obesity. ( 30740706 )
2019
22
Obesity Trends among Asthma Patients in the United States: A Population-based Study. ( 30741512 )
2019
23
Diet and Metabolism in the Evolution of Asthma and Obesity. ( 30691720 )
2019
24
Obesity and asthma. ( 30700407 )
2019
25
Association between asthma, obesity, and health behaviors in African American youth. ( 30702005 )
2019
26
The role of antimicrobial treatment during pregnancy on the neonatal gut microbiome and the development of atopy, asthma, allergy and obesity in childhood. ( 30739516 )
2019
27
Associations between physical activity and asthma, eczema and obesity in children aged 12-16: an observational cohort study. ( 30662005 )
2019
28
Investigation of the Relationship between Asthma and Visceral Obesity by Epicardial Fat Thickness Measurement. ( 30664419 )
2019
29
MAP(kinase)-ing a Link Between Obesity and Inflammation in Severe Asthma. ( 30673504 )
2019
30
Increased eosinophil uptake in the lungs of obese patients with asthma-to correct for obesity compared to obese controls. ( 30639068 )
2019
31
Weight Loss for Children and Adults with Obesity and Asthma: A Systematic Review of Randomized Controlled Trials. ( 30605347 )
2019
32
Obesity and adult asthma: diagnostic and management challenges. ( 30394901 )
2019
33
Obesity and childhood asthma. ( 30334826 )
2019
34
Relation of Obesity to Outcomes of Hospitalizations for Atrial Fibrillation. ( 30819431 )
2019
35
Interaction of obesity and atrial fibrillation: an overview of pathophysiology and clinical management. ( 30757925 )
2019
36
Metabolically Healthy Obesity and Risk for Atrial Fibrillation: The HUNT Study. ( 30605242 )
2019
37
Prevalence of Overweight and Obesity Among Children and Adolescents With Autism Spectrum Disorder and Associated Risk Factors. ( 30842939 )
2019
38
Impact of Psychoactive Drug Use on Developing Obesity among Children and Adolescents with Autism Spectrum Diagnosis: A Nested Case-Control Study. ( 30668140 )
2019
39
Effects of obesity on sperm retrieval, early embryo quality and clinical outcomes in men with nonobstructive azoospermia undergoing testicular sperm aspiration-intracytoplasmic sperm injection cycles. ( 30854691 )
2019
40
Association between obesity and bacterial vaginosis as assessed by Nugent score. ( 30707966 )
2019
41
Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis. ( 30902542 )
2019
42
Genome-wide Analysis Reveals DNA Methylation Alterations in Obesity Associated with High Risk of Colorectal Cancer. ( 30911103 )
2019
43
Effects of obesity and weight loss on mitochondrial structure and function and implications for colorectal cancer risk. ( 30898183 )
2019
44
Transcriptome Profiles of Human Visceral Adipocytes in Obesity and Colorectal Cancer Unravel the Effects of Body Mass Index and Polyunsaturated Fatty Acids on Genes and Biological Processes Related to Tumorigenesis. ( 30838002 )
2019
45
Effects of Xiaotan Tongfu decoction on hepatic metastasis in obesity-associated colorectal cancer. ( 30616417 )
2019
46
Reproductive factors, obesity and risk of colorectal cancer in a cohort of Asian women. ( 30448606 )
2019
47
Recipient obesity does not affect survival after deceased donor liver transplantation for hepatocellular carcinoma. A national retrospective cohort study in the United States. ( 30691592 )
2019
48
Association of body mass index with bladder cancer risk in men depends on abdominal obesity. ( 30806768 )
2019
49
Obesity-Altered Adipose Stem Cells Promote ER⁺ Breast Cancer Metastasis through Estrogen Independent Pathways. ( 30897853 )
2019
50
Letter regarding article, "Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis". ( 30859189 )
2019

Variations for Body Mass Index Quantitative Trait Locus 19

ClinVar genetic disease variations for Body Mass Index Quantitative Trait Locus 19:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADCY3 NM_004036.4(ADCY3): c.2433-1G> A single nucleotide variant risk factor rs1331776405 GRCh37 Chromosome 2, 25050478: 25050478
2 ADCY3 NM_004036.4(ADCY3): c.2433-1G> A single nucleotide variant risk factor rs1331776405 GRCh38 Chromosome 2, 24827609: 24827609
3 ADCY3 NM_004036.4(ADCY3): c.3315del (p.Ile1106Serfs) deletion risk factor rs1553329804 GRCh37 Chromosome 2, 25042921: 25042921
4 ADCY3 NM_004036.4(ADCY3): c.3315del (p.Ile1106Serfs) deletion risk factor rs1553329804 GRCh38 Chromosome 2, 24820052: 24820052
5 ADCY3 NM_004036.4(ADCY3): c.1268del (p.Gly423Alafs) deletion risk factor rs754914420 GRCh38 Chromosome 2, 24839960: 24839960
6 ADCY3 NM_004036.4(ADCY3): c.1268del (p.Gly423Alafs) deletion risk factor rs754914420 GRCh37 Chromosome 2, 25062829: 25062829
7 ADCY3 NM_004036.4(ADCY3): c.2578-1G> A single nucleotide variant risk factor rs1553333167 GRCh38 Chromosome 2, 24824537: 24824537
8 ADCY3 NM_004036.4(ADCY3): c.2578-1G> A single nucleotide variant risk factor rs1553333167 GRCh37 Chromosome 2, 25047406: 25047406
9 ADCY3 NM_004036.4(ADCY3): c.3354_3356del (p.Phe1118del) deletion risk factor rs750852737 GRCh38 Chromosome 2, 24820011: 24820013
10 ADCY3 NM_004036.4(ADCY3): c.3354_3356del (p.Phe1118del) deletion risk factor rs750852737 GRCh37 Chromosome 2, 25042880: 25042882

Expression for Body Mass Index Quantitative Trait Locus 19

Search GEO for disease gene expression data for Body Mass Index Quantitative Trait Locus 19.

Pathways for Body Mass Index Quantitative Trait Locus 19

GO Terms for Body Mass Index Quantitative Trait Locus 19

Sources for Body Mass Index Quantitative Trait Locus 19

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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