AOMS3
MCID: ABD013
MIFTS: 27

Abdominal Obesity-Metabolic Syndrome 3 (AOMS3)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Abdominal Obesity-Metabolic Syndrome 3

MalaCards integrated aliases for Abdominal Obesity-Metabolic Syndrome 3:

Name: Abdominal Obesity-Metabolic Syndrome 3 58 39 12 76 30 6 74
Central Obesity, Type 2 Diabetes, Hypertension, and Early-Onset Coronary Artery Disease 58 76
Aoms3 58 76
Obesity, Abdominal, Metabolic Syndrome, Type 3 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
coronary artery disease or myocardial infarction in fifth or sixth decade of life
risk of sudden death


HPO:

33
abdominal obesity-metabolic syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Abdominal Obesity-Metabolic Syndrome 3

UniProtKB/Swiss-Prot : 76 Abdominal obesity-metabolic syndrome 3: A form of abdominal obesity-metabolic syndrome, a disorder characterized by abdominal obesity, high triglycerides, low levels of high density lipoprotein cholesterol, high blood pressure, and elevated fasting glucose levels. AOMS3 is characterized by early-onset coronary artery disease, central obesity, hypertension, and diabetes.

MalaCards based summary : Abdominal Obesity-Metabolic Syndrome 3, is also known as central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease. An important gene associated with Abdominal Obesity-Metabolic Syndrome 3 is DYRK1B (Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1B). Related phenotypes are stroke and hypertension

Disease Ontology : 12 An abdominal obesity-metabolic syndrome that has material basis in heterozygous mutation in the DYRK1B gene on chromosome 19q13.

Description from OMIM: 615812

Related Diseases for Abdominal Obesity-Metabolic Syndrome 3

Diseases in the Abdominal Obesity-Metabolic Syndrome 1 family:

Abdominal Obesity-Metabolic Syndrome 3

Symptoms & Phenotypes for Abdominal Obesity-Metabolic Syndrome 3

Human phenotypes related to Abdominal Obesity-Metabolic Syndrome 3:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 stroke 33 occasional (7.5%) HP:0001297
2 hypertension 33 HP:0000822
3 myocardial infarction 33 HP:0001658
4 hypercholesterolemia 33 HP:0003124
5 truncal obesity 33 HP:0001956
6 abdominal obesity 33 HP:0012743
7 coronary artery stenosis 33 HP:0005145

Symptoms via clinical synopsis from OMIM:

58
Abdomen External Features:
truncal obesity

Laboratory Abnormalities:
elevated total cholesterol
elevated fasting glucose
elevated fasting triglycerides
borderline elevated low-density lipoprotein

Cardiovascular Heart:
coronary artery stenosis, early-onset
myocardial infarction, early-onset

Cardiovascular Vascular:
stroke (in some patients)
hypertension, severe

Growth Weight:
central obesity, juvenile-onset
elevated body mass index

Endocrine Features:
type 2 diabetes mellitus (t2d)

Clinical features from OMIM:

615812

Drugs & Therapeutics for Abdominal Obesity-Metabolic Syndrome 3

Search Clinical Trials , NIH Clinical Center for Abdominal Obesity-Metabolic Syndrome 3

Genetic Tests for Abdominal Obesity-Metabolic Syndrome 3

Genetic tests related to Abdominal Obesity-Metabolic Syndrome 3:

# Genetic test Affiliating Genes
1 Abdominal Obesity-Metabolic Syndrome 3 30 DYRK1B

Anatomical Context for Abdominal Obesity-Metabolic Syndrome 3

Publications for Abdominal Obesity-Metabolic Syndrome 3

Variations for Abdominal Obesity-Metabolic Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Abdominal Obesity-Metabolic Syndrome 3:

76
# Symbol AA change Variation ID SNP ID
1 DYRK1B p.His90Pro VAR_071773 rs587777380
2 DYRK1B p.Arg102Cys VAR_071774 rs367643250

ClinVar genetic disease variations for Abdominal Obesity-Metabolic Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DYRK1B NM_004714.2(DYRK1B): c.304C> T (p.Arg102Cys) single nucleotide variant Pathogenic rs367643250 GRCh38 Chromosome 19, 39830443: 39830443
2 DYRK1B NM_004714.2(DYRK1B): c.304C> T (p.Arg102Cys) single nucleotide variant Pathogenic rs367643250 GRCh37 Chromosome 19, 40321083: 40321083
3 DYRK1B NM_004714.3(DYRK1B): c.269A> C (p.His90Pro) single nucleotide variant Pathogenic rs587777380 GRCh38 Chromosome 19, 39830478: 39830478
4 DYRK1B NM_004714.3(DYRK1B): c.269A> C (p.His90Pro) single nucleotide variant Pathogenic rs587777380 GRCh37 Chromosome 19, 40321118: 40321118
5 AHDC1 NM_001029882.3(AHDC1): c.2773C> T (p.Arg925Ter) single nucleotide variant Likely pathogenic rs777736953 GRCh37 Chromosome 1, 27875854: 27875854
6 AHDC1 NM_001029882.3(AHDC1): c.2773C> T (p.Arg925Ter) single nucleotide variant Likely pathogenic rs777736953 GRCh38 Chromosome 1, 27549343: 27549343

Expression for Abdominal Obesity-Metabolic Syndrome 3

Search GEO for disease gene expression data for Abdominal Obesity-Metabolic Syndrome 3.

Pathways for Abdominal Obesity-Metabolic Syndrome 3

GO Terms for Abdominal Obesity-Metabolic Syndrome 3

Sources for Abdominal Obesity-Metabolic Syndrome 3

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
Content
Loading form....