MCID: ABD013
MIFTS: 25

Abdominal Obesity-Metabolic Syndrome 3

Categories: 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 38 12 75 29 6 73
Central Obesity, Type 2 Diabetes, Hypertension, and Early-Onset Coronary Artery Disease 57 75
Aoms3 57 75
Obesity, Abdominal, Metabolic Syndrome, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
abdominal obesity-metabolic syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615812
Disease Ontology 12 DOID:0060612
MeSH 44 D024821
UMLS 73 C4014361

Summaries for Abdominal Obesity-Metabolic Syndrome 3

UniProtKB/Swiss-Prot : 75 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 hypertension and stroke

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

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
central obesity, juvenile-onset
elevated body mass index

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

Endocrine Features:
type 2 diabetes mellitus (t2d)

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

Abdomen External Features:
truncal obesity

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


Clinical features from OMIM:

615812

Human phenotypes related to Abdominal Obesity-Metabolic Syndrome 3:

32
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 stroke 32 occasional (7.5%) HP:0001297
3 truncal obesity 32 HP:0001956
4 hypercholesterolemia 32 HP:0003124
5 abdominal obesity 32 HP:0012743

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

Variations for Abdominal Obesity-Metabolic Syndrome 3

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

75
# 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_004714.2(DYRK1B): c.269A> C (p.His90Pro) single nucleotide variant Pathogenic rs587777380 GRCh38 Chromosome 19, 39830478: 39830478
4 DYRK1B NM_004714.2(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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....