AOMS4
MCID: ABD015
MIFTS: 15

Abdominal Obesity-Metabolic Syndrome 4 (AOMS4)

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

Aliases & Classifications for Abdominal Obesity-Metabolic Syndrome 4

MalaCards integrated aliases for Abdominal Obesity-Metabolic Syndrome 4:

Name: Abdominal Obesity-Metabolic Syndrome 4 56 73
Aoms4 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 56 618620
OMIM Phenotypic Series 56 PS605552
MeSH 43 D024821

Summaries for Abdominal Obesity-Metabolic Syndrome 4

OMIM : 56 Abdominal obesity-metabolic syndrome-4 (AOMS4) is characterized by obesity, hypertension, and early-onset coronary artery disease. Most affected individuals meet the criteria for metabolic syndrome, including elevated triglyceride and low high-density lipoprotein levels, and type 2 diabetes (Esteghamat et al., 2019). For a discussion of the genetic heterogeneity of abdominal obesity-metabolic syndrome, see AOMS1 (605552). (618620)

MalaCards based summary : Abdominal Obesity-Metabolic Syndrome 4, is also known as aoms4. An important gene associated with Abdominal Obesity-Metabolic Syndrome 4 is CELA2A (Chymotrypsin Like Elastase 2A).

UniProtKB/Swiss-Prot : 73 Abdominal obesity-metabolic syndrome 4: 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. AOMS4 is an autosomal dominant disease. Patients manifest obesity, hypertension, early-onset coronary artery disease and type 2 diabetes.

Related Diseases for Abdominal Obesity-Metabolic Syndrome 4

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 4

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Vascular:
hypertension

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

Endocrine Features:
type 2 diabetes mellitus (t2d)

Laboratory Abnormalities:
elevated hemoglobin a1c (hba1c)
elevated fasting blood glucose
markedly elevated triglycerides
low high-density lipoprotein (hdl)

Growth Weight:
elevated body mass index

Clinical features from OMIM:

618620

Drugs & Therapeutics for Abdominal Obesity-Metabolic Syndrome 4

Search Clinical Trials , NIH Clinical Center for Abdominal Obesity-Metabolic Syndrome 4

Genetic Tests for Abdominal Obesity-Metabolic Syndrome 4

Anatomical Context for Abdominal Obesity-Metabolic Syndrome 4

Publications for Abdominal Obesity-Metabolic Syndrome 4

Articles related to Abdominal Obesity-Metabolic Syndrome 4:

# Title Authors PMID Year
1
CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation. 56
31358993 2019

Variations for Abdominal Obesity-Metabolic Syndrome 4

UniProtKB/Swiss-Prot genetic disease variations for Abdominal Obesity-Metabolic Syndrome 4:

73
# Symbol AA change Variation ID SNP ID
1 CELA2A p.Thr70Met VAR_083326
2 CELA2A p.Asp121Asn VAR_083328

Expression for Abdominal Obesity-Metabolic Syndrome 4

Search GEO for disease gene expression data for Abdominal Obesity-Metabolic Syndrome 4.

Pathways for Abdominal Obesity-Metabolic Syndrome 4

GO Terms for Abdominal Obesity-Metabolic Syndrome 4

Sources for Abdominal Obesity-Metabolic Syndrome 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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