BMIQ19
MCID: BDY020
MIFTS: 44

Body Mass Index Quantitative Trait Locus 19 (BMIQ19)

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
SNOMED-CT via HPO 70 44169009 48606007 83156004
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 body mass index quantitative trait locus 11 and obesity, early-onset, with adrenal insufficiency and red hair, 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, heart and breast, and related phenotypes are anosmia and hyposmia

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
Body Mass Index Quantitative Trait Locus 20

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 1230)
# Related Disease Score Top Affiliating Genes
1 body mass index quantitative trait locus 11 12.6
2 obesity, early-onset, with adrenal insufficiency and red hair 12.6
3 morbid obesity and spermatogenic failure 12.5
4 obesity-hypoventilation syndrome 12.4
5 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 12.4
6 obesity, hyperphagia, and developmental delay 12.4
7 abdominal obesity-metabolic syndrome 1 12.4
8 spastic paraplegia, intellectual disability, nystagmus, and obesity 12.4
9 retinal dystrophy and obesity 12.4
10 abdominal obesity-metabolic syndrome 3 12.4
11 leptin deficiency or dysfunction 12.4
12 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 12.4
13 developmental delay, intellectual disability, obesity, and dysmorphic features 12.4
14 hypothalamic obesity 12.3
15 x-linked intellectual disability - short stature - obesity 12.3
16 obesity due to congenital leptin deficiency 12.3
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 obesity due to congenital leptin resistance 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 wilson-turner x-linked mental retardation syndrome 12.1
27 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia 12.1
28 coloboma-obesity-hypogenitalism-mental retardation syndrome 12.0
29 proprotein convertase 1/3 deficiency 12.0
30 cohen syndrome 12.0
31 prolactin deficiency with obesity and enlarged testes 12.0
32 short stature-obesity syndrome 12.0
33 mental retardation, obesity, mandibular prognathism, and eye and skin anomalies 12.0
34 genetic non-syndromic obesity 12.0
35 congenital leptin deficiency 11.9
36 momo syndrome 11.9
37 x-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome 11.9
38 intellectual disability-seizures-macrocephaly-obesity syndrome 11.9
39 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 11.9
40 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome 11.9
41 ayazi syndrome 11.8
42 body mass index quantitative trait locus 18 11.8
43 body mass index quantitative trait locus 8 11.8
44 body mass index quantitative trait locus 7 11.8
45 body mass index quantitative trait locus 14 11.8
46 rohhad 11.8
47 mehmo syndrome 11.8
48 body mass index quantitative trait locus 10 11.8
49 body mass index quantitative trait locus 20 11.8
50 chops syndrome 11.7

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

Human phenotypes related to Body Mass Index Quantitative Trait Locus 19:

33
# Description HPO Frequency HPO Source Accession
1 anosmia 33 HP:0000458
2 hyposmia 33 HP:0004409
3 insulin resistance 33 HP:0000855

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, Heart, Breast, Bone, Kidney, Brain, Prostate

Publications for Body Mass Index Quantitative Trait Locus 19

Articles related to Body Mass Index Quantitative Trait Locus 19:

(show top 50) (show all 2959)
# 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
The association between obesity and outcomes in acute pancreatitis: an individual patient data meta-analysis. ( 30399003 )
2019
6
Sarcopenia and sarcopenic obesity are independent adverse prognostic factors in resectable pancreatic ductal adenocarcinoma. ( 31059520 )
2019
7
Obesity is a common soil for premature cardiac aging and heart diseases - Role of autophagy. ( 31109454 )
2019
8
Profiling obesity phenotypes and trajectories in older adults of the Quebec NuAge cohort on nutrition and successful aging: A cluster analysis. ( 30695177 )
2019
9
Positive views of aging reduce risk of developing later-life obesity. ( 30705805 )
2019
10
Sympathetic nervous system as a target for aging and obesity-related cardiovascular diseases. ( 30519806 )
2019
11
Obesity and adiposity indicators in asthma and allergic rhinitis in children. ( 30507714 )
2019
12
Alpha-1 Antitrypsin Deficiency Liver Disease, Mutational Homogeneity Modulated by Epigenetic Heterogeneity With Links to Obesity. ( 30681738 )
2019
13
Suboptimal bone microarchitecure in adolescent girls with obesity compared to normal-weight controls and girls with anorexia nervosa. ( 30853658 )
2019
14
Adolescent males with atypical anorexia nervosa and premorbid obesity: three case reports. ( 31054131 )
2019
15
Influence of Anxiety/Depression on the Subjective Evaluation of Cough in Patients with Chronic Obstructive Pulmonary Disease and Obesity. ( 31091811 )
2019
16
Obesity-Induced Cellular Senescence Drives Anxiety and Impairs Neurogenesis. ( 31067450 )
2019
17
Binge eating and social anxiety in treatment-seeking adolescents with eating disorders or severe obesity. ( 31020481 )
2019
18
Factors associated with depression and anxiety symptoms among children seeking treatment for obesity: A social-ecological approach. ( 30990254 )
2019
19
Obesity and anxiety symptoms: a systematic review and meta-analysis. ( 30778841 )
2019
20
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
21
Anxiety in obesity: Is neuroinflammation the critical link? ( 30654006 )
2019
22
Obesity-Induced Cellular Senescence Drives Anxiety and Impairs Neurogenesis. ( 30612898 )
2019
23
Comparing anxiety and depression to obesity and smoking as predictors of major medical illnesses and somatic symptoms. ( 30556708 )
2019
24
Brain tumor necrosis factor-α mediates anxiety-like behavior in a mouse model of severe obesity. ( 30508579 )
2019
25
Perforated appendicitis in the setting of a massive ventral hernia, morbid obesity, and multiple severe comorbidities: challenges in acute management. ( 30740533 )
2019
26
Rural-Urban Variation in Weight Loss Recommendations Among US Older Adults with Arthritis and Obesity. ( 30884784 )
2019
27
Weight loss improves disease activity in patients with psoriatic arthritis and obesity: an interventional study. ( 30635024 )
2019
28
Obesity and Laboratory Aspirin Resistance in High Risk Pregnant Women Treated with Low Dose Aspirin. ( 30786253 )
2019
29
Functional state of the small airways in patients with bronchial asthma associated with obesity. ( 31090373 )
2019
30
The Association between Asthma and Obesity in Children - Inflammatory and Mechanical Factors. ( 31110576 )
2019
31
Obesity affects peripheral lymphoid organs immune response in murine asthma model. ( 31112301 )
2019
32
Elucidation of causal direction between asthma and obesity: a bi-directional Mendelian randomization study. ( 31005996 )
2019
33
Obesity causes pulmonary dysbiosis affecting innate immune response in murine asthma model. ( 31006120 )
2019
34
Asthma and obesity in the Middle East region: An overview. ( 31007762 )
2019
35
Asthma and obesity as predictors of severe obstructive sleep apnea in an adolescent pediatric population. ( 31026081 )
2019
36
Association between overweight or obesity and the risk for childhood asthma and wheeze: An updated meta-analysis on 18 articles and 73 252 children. ( 31033249 )
2019
37
Childhood obesity is associated with higher incidence of paediatric onset asthma. ( 31036698 )
2019
38
Omega-3 Fatty Acids for Obesity and Asthma: Is the Good Fat Not Quite Good Enough? ( 31042092 )
2019
39
Reply: Weight Loss in Individuals with Obesity and Asthma. ( 30969783 )
2019
40
Weight Loss in Individuals with Obesity and Asthma. ( 30969796 )
2019
41
Association between abdominal obesity and asthma: a meta-analysis. ( 30949213 )
2019
42
Older age and obesity are associated with increased airway closure in response to methacholine in patients with asthma. ( 30838750 )
2019
43
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
44
Exposure to indoor endocrine-disrupting chemicals and childhood asthma and obesity. ( 30740706 )
2019
45
Obesity Trends among Asthma Patients in the United States: A Population-based Study. ( 30741512 )
2019
46
MAP(kinase)-ing a Link between Obesity and Inflammation in Severe Asthma. ( 30673504 )
2019
47
Diet and Metabolism in the Evolution of Asthma and Obesity. ( 30691720 )
2019
48
Obesity and asthma. ( 30700407 )
2019
49
Association between asthma, obesity, and health behaviors in African American youth. ( 30702005 )
2019
50
Increased eosinophil uptake in the lungs of obese patients with asthma-to correct for obesity compared to obese controls. ( 30639068 )
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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