BMIQ20
MCID: BDY021
MIFTS: 30

Body Mass Index Quantitative Trait Locus 20 (BMIQ20)

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

Aliases & Classifications for Body Mass Index Quantitative Trait Locus 20

MalaCards integrated aliases for Body Mass Index Quantitative Trait Locus 20:

Name: Body Mass Index Quantitative Trait Locus 20 58 6
Melanocortin 4 Receptor Deficiency 58
Melanocortin-4 Receptor 13
Mc4r Deficiency 58
Obesity 58
Bmiq20 58

Characteristics:

OMIM:

58
Miscellaneous:
variable penetrance
mc4r deficiency is associated with severe early-onset obesity
gain-of-function mc4r variants are associated with resistance to obesity
variable associated features
increased body weight within 1st year of life in most patients
homozygotes have higher mean percentage body fat than heterozygotes

Inheritance:
autosomal dominant autosomal recessive


Classifications:



External Ids:

OMIM 58 618406

Summaries for Body Mass Index Quantitative Trait Locus 20

OMIM : 58 Obesity due to mutation in the MC4R gene is the most common cause of monogenic obesity. Patients have early-onset severe obesity and hyperphagia (Farooqi et al., 2003). (618406)

MalaCards based summary : Body Mass Index Quantitative Trait Locus 20, also known as melanocortin 4 receptor deficiency, is related to body mass index quantitative trait locus 11 and obesity, early-onset, with adrenal insufficiency and red hair. An important gene associated with Body Mass Index Quantitative Trait Locus 20 is MC4R (Melanocortin 4 Receptor). Affiliated tissues include heart, bone and liver.

Related Diseases for Body Mass Index Quantitative Trait Locus 20

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

(show top 50) (show all 1232)
# 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 body mass index quantitative trait locus 19 12.1
27 wilson-turner x-linked mental retardation syndrome 12.1
28 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia 12.1
29 coloboma-obesity-hypogenitalism-mental retardation syndrome 12.0
30 proprotein convertase 1/3 deficiency 12.0
31 cohen syndrome 12.0
32 prolactin deficiency with obesity and enlarged testes 12.0
33 short stature-obesity syndrome 12.0
34 mental retardation, obesity, mandibular prognathism, and eye and skin anomalies 12.0
35 genetic non-syndromic obesity 12.0
36 congenital leptin deficiency 11.9
37 momo syndrome 11.9
38 x-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome 11.9
39 intellectual disability-seizures-macrocephaly-obesity syndrome 11.9
40 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 11.9
41 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome 11.9
42 ayazi syndrome 11.8
43 body mass index quantitative trait locus 18 11.8
44 body mass index quantitative trait locus 8 11.8
45 body mass index quantitative trait locus 7 11.8
46 body mass index quantitative trait locus 14 11.8
47 rohhad 11.8
48 mehmo syndrome 11.8
49 body mass index quantitative trait locus 10 11.8
50 chops syndrome 11.7

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



Diseases related to Body Mass Index Quantitative Trait Locus 20

Symptoms & Phenotypes for Body Mass Index Quantitative Trait Locus 20

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
increased bone mineral density
increased bone mineral content

Growth Weight:
early-onset obesity
increased lean body mass

Cardiovascular Vascular:
relatively low blood pressure for degree of obesity
lower diastolic blood pressure (gain-of-function variants)

Endocrine Features:
hyperinsulinemia at rate disproportionate to the degree of obesity
increased risk of type 2 diabetes

Growth Height:
increased linear growth

Cardiovascular Heart:
lower increase in heart rate upon waking
lower heart rate during euglycemic hyperinsulinemia
increased risk of coronary artery disease
lower resting heart rate (gain-of-function variants)
reduced risk of coronary artery disease (gain-of-function variants)

Abdomen Gastrointestinal:
hyperphagia (decreases with age)

Clinical features from OMIM:

618406

Drugs & Therapeutics for Body Mass Index Quantitative Trait Locus 20

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study to Evaluate Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of RM-493 Administered to Healthy, Obese, Non-diabetic Volunteers Completed NCT02431442 Phase 1 RM-493;Placebo

Search NIH Clinical Center for Body Mass Index Quantitative Trait Locus 20

Genetic Tests for Body Mass Index Quantitative Trait Locus 20

Anatomical Context for Body Mass Index Quantitative Trait Locus 20

MalaCards organs/tissues related to Body Mass Index Quantitative Trait Locus 20:

42
Heart, Bone, Liver, Breast, Pituitary, Prostate, Kidney

Publications for Body Mass Index Quantitative Trait Locus 20

Articles related to Body Mass Index Quantitative Trait Locus 20:

# Title Authors Year
1
Melanocortin-4 Receptor Deficiency Attenuates Placental Ischemia-Induced Hypertension in Pregnant Rats. ( 30571561 )
2019
2
Severe obstructive sleep apnea in a child with melanocortin-4 receptor deficiency. ( 24426828 )
2014
3
Greater impact of melanocortin-4 receptor deficiency on rates of growth and risk of type 2 diabetes during childhood compared with adulthood in Pima Indians. ( 22106157 )
2012
4
Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees. ( 18559663 )
2008
5
Cart overexpression is the only identifiable cause of high bone mass in melanocortin 4 receptor deficiency. ( 16614075 )
2006
6
Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency. ( 10903343 )
2000

Variations for Body Mass Index Quantitative Trait Locus 20

ClinVar genetic disease variations for Body Mass Index Quantitative Trait Locus 20:

6 (show all 35)
# Gene Variation Type Significance SNP ID Assembly Location
1 MC4R MC4R, 4-BP DEL, NT631 deletion Pathogenic
2 MC4R MC4R, 4-BP INS, NT732 insertion Pathogenic
3 MC4R NM_005912.2(MC4R): c.148G> A (p.Val50Met) single nucleotide variant Pathogenic rs121913557 GRCh37 Chromosome 18, 58039435: 58039435
4 MC4R NM_005912.2(MC4R): c.148G> A (p.Val50Met) single nucleotide variant Pathogenic rs121913557 GRCh38 Chromosome 18, 60372202: 60372202
5 MC4R NM_005912.2(MC4R): c.172A> T (p.Ser58Cys) single nucleotide variant Pathogenic rs121913558 GRCh37 Chromosome 18, 58039411: 58039411
6 MC4R NM_005912.2(MC4R): c.172A> T (p.Ser58Cys) single nucleotide variant Pathogenic rs121913558 GRCh38 Chromosome 18, 60372178: 60372178
7 MC4R NM_005912.2(MC4R): c.305T> G (p.Ile102Ser) single nucleotide variant Pathogenic rs121913559 GRCh37 Chromosome 18, 58039278: 58039278
8 MC4R NM_005912.2(MC4R): c.305T> G (p.Ile102Ser) single nucleotide variant Pathogenic rs121913559 GRCh38 Chromosome 18, 60372045: 60372045
9 MC4R NM_005912.2(MC4R): c.508A> G (p.Ile170Val) single nucleotide variant Pathogenic rs121913560 GRCh37 Chromosome 18, 58039075: 58039075
10 MC4R NM_005912.2(MC4R): c.508A> G (p.Ile170Val) single nucleotide variant Pathogenic rs121913560 GRCh38 Chromosome 18, 60371842: 60371842
11 MC4R NM_005912.2(MC4R): c.821A> G (p.Asn274Ser) single nucleotide variant Pathogenic rs121913561 GRCh37 Chromosome 18, 58038762: 58038762
12 MC4R NM_005912.2(MC4R): c.821A> G (p.Asn274Ser) single nucleotide variant Pathogenic rs121913561 GRCh38 Chromosome 18, 60371529: 60371529
13 MC4R MC4R, 1-BP INS, 112A insertion Pathogenic
14 MC4R MC4R, 4-BP DEL, 211CTCT deletion Pathogenic
15 MC4R MC4R, 2-BP INS, 279GT insertion Pathogenic
16 MC4R MC4R, ILE125LYS undetermined variant Pathogenic
17 MC4R NM_005912.2(MC4R): c.812G> A (p.Cys271Tyr) single nucleotide variant Pathogenic rs121913562 GRCh37 Chromosome 18, 58038771: 58038771
18 MC4R NM_005912.2(MC4R): c.812G> A (p.Cys271Tyr) single nucleotide variant Pathogenic rs121913562 GRCh38 Chromosome 18, 60371538: 60371538
19 MC4R NM_005912.2(MC4R): c.523G> A (p.Ala175Thr) single nucleotide variant Pathogenic rs121913563 GRCh37 Chromosome 18, 58039060: 58039060
20 MC4R NM_005912.2(MC4R): c.523G> A (p.Ala175Thr) single nucleotide variant Pathogenic rs121913563 GRCh38 Chromosome 18, 60371827: 60371827
21 MC4R NM_005912.2(MC4R): c.947T> G (p.Ile316Ser) single nucleotide variant Pathogenic rs121913564 GRCh37 Chromosome 18, 58038636: 58038636
22 MC4R NM_005912.2(MC4R): c.947T> G (p.Ile316Ser) single nucleotide variant Pathogenic rs121913564 GRCh38 Chromosome 18, 60371403: 60371403
23 MC4R NM_005912.2(MC4R): c.861T> A (p.Tyr287Ter) single nucleotide variant Pathogenic rs121917829 GRCh37 Chromosome 18, 58038722: 58038722
24 MC4R NM_005912.2(MC4R): c.861T> A (p.Tyr287Ter) single nucleotide variant Pathogenic rs121917829 GRCh38 Chromosome 18, 60371489: 60371489
25 MC4R NM_005912.2(MC4R): c.289A> G (p.Asn97Asp) single nucleotide variant Pathogenic rs121913565 GRCh37 Chromosome 18, 58039294: 58039294
26 MC4R NM_005912.2(MC4R): c.289A> G (p.Asn97Asp) single nucleotide variant Pathogenic rs121913565 GRCh38 Chromosome 18, 60372061: 60372061
27 MC4R NM_005912.2(MC4R): c.185A> G (p.Asn62Ser) single nucleotide variant Pathogenic rs121913566 GRCh37 Chromosome 18, 58039398: 58039398
28 MC4R NM_005912.2(MC4R): c.185A> G (p.Asn62Ser) single nucleotide variant Pathogenic rs121913566 GRCh38 Chromosome 18, 60372165: 60372165
29 MC4R MC4R, 15-BP DEL deletion Pathogenic
30 MC4R NM_005912.2(MC4R): c.380C> T (p.Ser127Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs13447331 GRCh37 Chromosome 18, 58039203: 58039203
31 MC4R NM_005912.2(MC4R): c.380C> T (p.Ser127Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs13447331 GRCh38 Chromosome 18, 60371970: 60371970
32 MC4R NM_005912.2(MC4R): c.656C> T (p.Ala219Val) single nucleotide variant Pathogenic rs121913567 GRCh37 Chromosome 18, 58038927: 58038927
33 MC4R NM_005912.2(MC4R): c.656C> T (p.Ala219Val) single nucleotide variant Pathogenic rs121913567 GRCh38 Chromosome 18, 60371694: 60371694
34 MC4R NM_005912.2(MC4R): c.750_751del (p.Ile251Trpfs) deletion Pathogenic rs13447339 GRCh38 Chromosome 18, 60371599: 60371600
35 MC4R NM_005912.2(MC4R): c.750_751del (p.Ile251Trpfs) deletion Pathogenic rs13447339 GRCh37 Chromosome 18, 58038832: 58038833

Expression for Body Mass Index Quantitative Trait Locus 20

Search GEO for disease gene expression data for Body Mass Index Quantitative Trait Locus 20.

Pathways for Body Mass Index Quantitative Trait Locus 20

GO Terms for Body Mass Index Quantitative Trait Locus 20

Sources for Body Mass Index Quantitative Trait Locus 20

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63 PubMed
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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