Paula and Bobby
Parents of Lillie
Abdominal Obesity-Metabolic syndrome 1; AOMS1
What is Abdominal Obesity-Metabolic syndrome 1; AOMS1?
Abdominal Obesity-Metabolic syndrome 1; AOMS1 is a rare disease. It is also known as Metabolic Syndrome X.
* This information is courtesy of the L M D.
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What gene changes cause Abdominal Obesity-Metabolic syndrome 1; AOMS1?
The syndrome is inherited in the following inheritance pattern/s:
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 605552 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
HMGA1 - 6p21.31
CCL2 - 17q12
MTTP - 4q23
NOS3 - 7q36.1
PON1 - 7q21.3
RETN - 19p13.2
LEP - 7q32.1
IL18 - 11q23.1
ADIPOQ - 3q27.3
CRP - 1q23.2
NR1I3 - 1q23.3
INS - 11p15.5
PPARA - 22q13.31
SHBG - 17p13.1
NR1I2 - 3q13.33
INPPL1 - 11q13.4
IL6 - 7p15.3
LBP - 20q11.23
SIRT1 - 10q21.3
TRIB3 - 20p13
HTR2C - Xq23
NEIL1 - 15q24.2
What are the main symptoms of Abdominal Obesity-Metabolic syndrome 1; AOMS1?
The typical symptoms of the syndrome are:
How does someone get tested for Abdominal Obesity-Metabolic syndrome 1; AOMS1?
The initial testing for Abdominal Obesity-Metabolic syndrome 1; AOMS1 can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
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