AOMS3
MCID: ABD013
MIFTS: 28

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 57 12 72 29 6 70
Central Obesity, Type 2 Diabetes, Hypertension, and Early-Onset Coronary Artery Disease 57 72
Aoms3 57 72
Obesity, Abdominal, Metabolic Syndrome, Type 3 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
abdominal obesity-metabolic syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060612
OMIM® 57 615812
OMIM Phenotypic Series 57 PS605552
MeSH 44 D024821
UMLS 70 C4014361

Summaries for Abdominal Obesity-Metabolic Syndrome 3

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 615812 PS605552

Related Diseases for Abdominal Obesity-Metabolic Syndrome 3

Diseases in the Abdominal Obesity-Metabolic Syndrome 1 family:

Abdominal Obesity-Metabolic Syndrome 3 Abdominal Obesity-Metabolic Syndrome 4

Symptoms & Phenotypes for Abdominal Obesity-Metabolic Syndrome 3

Human phenotypes related to Abdominal Obesity-Metabolic Syndrome 3:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 stroke 31 occasional (7.5%) HP:0001297
2 hypertension 31 HP:0000822
3 myocardial infarction 31 HP:0001658
4 hypercholesterolemia 31 HP:0003124
5 truncal obesity 31 HP:0001956
6 coronary artery stenosis 31 HP:0005145
7 abdominal obesity 31 HP:0012743

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 29 DYRK1B

Anatomical Context for Abdominal Obesity-Metabolic Syndrome 3

Publications for Abdominal Obesity-Metabolic Syndrome 3

Articles related to Abdominal Obesity-Metabolic Syndrome 3:

# Title Authors PMID Year
1
A form of the metabolic syndrome associated with mutations in DYRK1B. 6 57
24827035 2014
2
The metabolic syndrome and DYRK1B. 57
25140973 2014
3
The metabolic syndrome and DYRK1B. 57
25140974 2014

Variations for Abdominal Obesity-Metabolic Syndrome 3

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DYRK1B NM_004714.3(DYRK1B):c.304C>T (p.Arg102Cys) SNV Pathogenic 132792 rs367643250 GRCh37: 19:40321083-40321083
GRCh38: 19:39830443-39830443
2 DYRK1B NM_004714.3(DYRK1B):c.269A>C (p.His90Pro) SNV Pathogenic 132793 rs587777380 GRCh37: 19:40321118-40321118
GRCh38: 19:39830478-39830478
3 AHDC1 NM_001029882.3(AHDC1):c.2773C>T (p.Arg925Ter) SNV Likely pathogenic 496678 rs777736953 GRCh37: 1:27875854-27875854
GRCh38: 1:27549343-27549343
4 DYRK1B NM_004714.3(DYRK1B):c.1541G>A (p.Arg514Gln) SNV Uncertain significance 1029888 GRCh37: 19:40316704-40316704
GRCh38: 19:39826064-39826064

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

72
# Symbol AA change Variation ID SNP ID
1 DYRK1B p.His90Pro VAR_071773 rs587777380
2 DYRK1B p.Arg102Cys VAR_071774 rs367643250

Expression for Abdominal Obesity-Metabolic Syndrome 3

LifeMap Discovery
Genes differentially expressed in tissues of Abdominal Obesity-Metabolic Syndrome 3 patients vs. healthy controls: 35
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 PLA2G7 phospholipase A2 group VII Adipose + 3.44 0.000
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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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