BMIQ9
MCID: BDY005
MIFTS: 35

Body Mass Index Quantitative Trait Locus 9 (BMIQ9)

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

Aliases & Classifications for Body Mass Index Quantitative Trait Locus 9

MalaCards integrated aliases for Body Mass Index Quantitative Trait Locus 9:

Name: Body Mass Index Quantitative Trait Locus 9 58 30 6 41
Obesity, Severe, Susceptibility to, Bmiq9 58 13
Obesity 58 74
Obesity, Susceptibility to 58
Obesity, Severe Bmiq9 58
Bmiq9 58

Characteristics:

OMIM:

58
Inheritance:
broad locus on 20q


Classifications:



External Ids:

OMIM 58 602025
MedGen 43 C2677162
SNOMED-CT via HPO 70 414915002 414916001
UMLS 74 C0028754

Summaries for Body Mass Index Quantitative Trait Locus 9

MalaCards based summary : Body Mass Index Quantitative Trait Locus 9, also known as obesity, severe, susceptibility to, bmiq9, 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 9 is MC3R (Melanocortin 3 Receptor). Affiliated tissues include bone, heart and liver, and related phenotype is obesity.

Description from OMIM: 602025

Related Diseases for Body Mass Index Quantitative Trait Locus 9

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 9 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 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 body mass index quantitative trait locus 20 11.8

Graphical network of the top 20 diseases related to Body Mass Index Quantitative Trait Locus 9:



Diseases related to Body Mass Index Quantitative Trait Locus 9

Symptoms & Phenotypes for Body Mass Index Quantitative Trait Locus 9

Human phenotypes related to Body Mass Index Quantitative Trait Locus 9:

33
# Description HPO Frequency HPO Source Accession
1 obesity 33 HP:0001513

Symptoms via clinical synopsis from OMIM:

58
Growth:
body fat content

Lab:
fasting insulin levels

Clinical features from OMIM:

602025

UMLS symptoms related to Body Mass Index Quantitative Trait Locus 9:


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

Drugs & Therapeutics for Body Mass Index Quantitative Trait Locus 9

Genetic Tests for Body Mass Index Quantitative Trait Locus 9

Genetic tests related to Body Mass Index Quantitative Trait Locus 9:

# Genetic test Affiliating Genes
1 Body Mass Index Quantitative Trait Locus 9 30 MC3R

Anatomical Context for Body Mass Index Quantitative Trait Locus 9

MalaCards organs/tissues related to Body Mass Index Quantitative Trait Locus 9:

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

Publications for Body Mass Index Quantitative Trait Locus 9

Articles related to Body Mass Index Quantitative Trait Locus 9:

# Title Authors Year
1
Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity. ( 21047972 )
2011
2
Sporadic mutations in melanocortin receptor 3 in morbid obese individuals. ( 18231126 )
2008
3
Functional characterization of melanocortin-3 receptor variants identify a loss-of-function mutation involving an amino acid critical for G protein-coupled receptor activation. ( 15292330 )
2004
4
Inactivation and intracellular retention of the human I183N mutated melanocortin 3 receptor associated with obesity. ( 15276649 )
2004
5
A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity. ( 11889220 )
2002

Variations for Body Mass Index Quantitative Trait Locus 9

ClinVar genetic disease variations for Body Mass Index Quantitative Trait Locus 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MC3R NM_019888.3(MC3R): c.437T> A (p.Ile146Asn) single nucleotide variant risk factor rs74315393 GRCh37 Chromosome 20, 54824336: 54824336
2 MC3R NM_019888.3(MC3R): c.437T> A (p.Ile146Asn) single nucleotide variant risk factor rs74315393 GRCh38 Chromosome 20, 56249280: 56249280
3 MC3R NM_019888.3(MC3R): c.893T> G (p.Ile298Ser) single nucleotide variant risk factor rs121913556 GRCh37 Chromosome 20, 54824792: 54824792
4 MC3R NM_019888.3(MC3R): c.893T> G (p.Ile298Ser) single nucleotide variant risk factor rs121913556 GRCh38 Chromosome 20, 56249736: 56249736

Expression for Body Mass Index Quantitative Trait Locus 9

Search GEO for disease gene expression data for Body Mass Index Quantitative Trait Locus 9.

Pathways for Body Mass Index Quantitative Trait Locus 9

GO Terms for Body Mass Index Quantitative Trait Locus 9

Sources for Body Mass Index Quantitative Trait Locus 9

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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