AOMS4
MCID: ABD015
MIFTS: 19

Abdominal Obesity-Metabolic Syndrome 4 (AOMS4)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases
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Aliases & Classifications for Abdominal Obesity-Metabolic Syndrome 4

MalaCards integrated aliases for Abdominal Obesity-Metabolic Syndrome 4:

Name: Abdominal Obesity-Metabolic Syndrome 4 57 11 73 5 38
Aoms4 57 73

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0080945
OMIM® 57 618620
OMIM Phenotypic Series 57 PS605552
MeSH 43 D024821
MedGen 40 C5231430

Summaries for Abdominal Obesity-Metabolic Syndrome 4

OMIM®: 57 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) (Updated 08-Dec-2022)

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). Related phenotypes are hypertension and hypertriglyceridemia

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has material basis in heterozygous mutation in the CELA2A gene on chromosome 1p36.

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

Human phenotypes related to Abdominal Obesity-Metabolic Syndrome 4:

30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 30 Very rare (1%) HP:0000822
2 hypertriglyceridemia 30 Very rare (1%) HP:0002155
3 myocardial infarction 30 Very rare (1%) HP:0001658
4 increased ldl cholesterol concentration 30 Very rare (1%) HP:0003141
5 decreased hdl cholesterol concentration 30 Very rare (1%) HP:0003233
6 elevated hemoglobin a1c 30 Very rare (1%) HP:0040217
7 type ii diabetes mellitus 30 HP:0005978
8 obesity 30 HP:0001513
9 coronary artery atherosclerosis 30 HP:0001677
10 accelerated atherosclerosis 30 HP:0004943

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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. 57
31358993 2019

Variations for Abdominal Obesity-Metabolic Syndrome 4

ClinVar genetic disease variations for Abdominal Obesity-Metabolic Syndrome 4:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CELA2A NM_033440.3(CELA2A):c.209C>T (p.Thr70Met) SNV Pathogenic
633595 rs372947070 GRCh37: 1:15788135-15788135
GRCh38: 1:15461640-15461640

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 rs372947070
2 CELA2A p.Asp121Asn VAR_083328 rs1352544800

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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