Disease #02554 (metabolic syndrome (metabolic syndrome))

Official abbreviation metabolic syndrome
Name metabolic syndrome
OMIM ID -
Inheritance -
Individuals reported having this disease 141
Phenotype entries for this disease 141
Associated with 1 gene MTTP
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2019-01-15 15:48:08 +01:00 (CET)


Individuals

141 entries on 2 pages. Showing entries 1 - 100.
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00216681 17711925-Pat1 PubMed: Decaudain 2007 affected mother and daugther F - France white - - - - metabolic syndrome severe, obesity, calves hypertrophy, android fat distribution LMNA LMNA 1 2 Johan den Dunnen
00216682 17711925-Pat2 PubMed: Decaudain 2007 - F - France white - - - - metabolic syndrome diabetes, peripheral neuropathy, retinopathy, hypertension, android body habitus. LMNA LMNA 1 1 Johan den Dunnen
00216683 17711925-Pat3 PubMed: Decaudain 2007 - F - France white - - - - metabolic syndrome insulin-requiring diabetes, retinopathy, neuropathy, chronic myalgia, articular pain pper limbs LMNA LMNA 1 1 Johan den Dunnen
00216684 17711925-Pat4 PubMed: Decaudain 2007 - M - France white - - - - metabolic syndrome insulin-resistant diabetes, retinopathy, nephropathy, peripheral neuropathy, hypertension, severe and diffuse atherosclerosis, coronary heart disease, carotid stenosis, ischemia lower limbs LMNA LMNA 1 1 Johan den Dunnen
00216685 17711925-Pat5 PubMed: Decaudain 2007 - F - France white - - - - metabolic syndrome insulin-resistant diabetes, chronic hyperglycemia led to retinopathy, peripheral neuropathy, renal failure, severe hypertriglyceridemia, diffuse atherosclerosis; 49y-coronary artery bypass LMNA LMNA 1 1 Johan den Dunnen
00216686 17711925-Pat6 PubMed: Decaudain 2007 - F - France white - - - - metabolic syndrome morbid android obesity, diabetes, hypertension, left ventricular hypertrophy LMNA LMNA 1 1 Johan den Dunnen
00216687 17711925-Pat7 PubMed: Decaudain 2007 - F - France white - - - - metabolic syndrome fat accumulation face/neck/upper thorax/pubic areas, painful pseudoedema hands/feet, muscle cramps lower limbs, pelvic muscles weakness LMNA LMNA 1 1 Johan den Dunnen
00216688 17711925-Pat8 PubMed: Decaudain 2007 - F - France white - - - - metabolic syndrome subclavicular fat accumulation, lipodystrophy, cevicofacial fat accumulation LMNA LMNA 1 1 Johan den Dunnen
00216689 17711925-Pat9 PubMed: Decaudain 2007 - F no Reunion African-Creole - - - - metabolic syndrome insulin-requiring diabetes, muscular hypertrophy, polycystic ovarian syndrome, diabetes, hypertension, hypertriglyceridemia, several myocardial infarctions, cardiac rhythm/conduction disturbances LMNA LMNA 2 1 Johan den Dunnen
00240062 - - - M no United States - - - - - metabolic syndrome CAD, hypertension, impaired glucose intolerance, gout, normal bone z-scores LRP6 LRP6 1 1 Emily Smith
00240063 - - - F no United States - - - - - metabolic syndrome CAD, diabetes, hypertension, hypercholesterolemia LRP6 LRP6 1 1 Emily Smith
00453585 Pat1 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACAD8 2 1 Johan den Dunnen
00453586 Pat2 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACAD8 2 1 Johan den Dunnen
00453587 Pat3 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACAD8 2 1 Johan den Dunnen
00453588 Pat4 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACAD8 2 1 Johan den Dunnen
00453589 Pat5 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADM 2 1 Johan den Dunnen
00453590 Pat6 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADM 1 1 Johan den Dunnen
00453591 Pat7 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADM 1 1 Johan den Dunnen
00453592 Pat8 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADM 1 1 Johan den Dunnen
00453593 Pat9 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADM 2 1 Johan den Dunnen
00453594 Pat10 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADM 2 1 Johan den Dunnen
00453595 Pat11 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADM 2 1 Johan den Dunnen
00453596 Pat12 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADM 2 1 Johan den Dunnen
00453597 Pat13 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADS 2 1 Johan den Dunnen
00453598 Pat14 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADS 2 1 Johan den Dunnen
00453599 Pat15 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADS 2 1 Johan den Dunnen
00453600 Pat16 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADS 2 1 Johan den Dunnen
00453601 Pat17 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADS 1 1 Johan den Dunnen
00453602 Pat18 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADSB 2 1 Johan den Dunnen
00453603 Pat19 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADVL 2 1 Johan den Dunnen
00453604 Pat20 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADVL 1 1 Johan den Dunnen
00453605 Pat21 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADVL 1 1 Johan den Dunnen
00453606 Pat22 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADVL 2 1 Johan den Dunnen
00453607 Pat23 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADVL 2 1 Johan den Dunnen
00453608 Pat24 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACAT1 1 1 Johan den Dunnen
00453609 Pat25 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ASL 2 1 Johan den Dunnen
00453610 Pat26 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ASS1 2 1 Johan den Dunnen
00453611 Pat27 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ASS1 2 1 Johan den Dunnen
00453612 Pat28 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - BCKDHA 2 1 Johan den Dunnen
00453613 Pat29 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - CBS 2 1 Johan den Dunnen
00453614 Pat30 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - CD320 2 1 Johan den Dunnen
00453615 Pat31 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - CPT1A 1 1 Johan den Dunnen
00453616 Pat32 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ETFB 2 1 Johan den Dunnen
00453617 Pat33 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - GCDH 1 1 Johan den Dunnen
00453618 Pat34 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - GCDH 1 1 Johan den Dunnen
00453619 Pat35 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - GCDH 2 1 Johan den Dunnen
00453620 Pat36 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - HADHA 2 1 Johan den Dunnen
00453621 Pat37 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - IVD 1 1 Johan den Dunnen
00453622 Pat38 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - IVD 1 1 Johan den Dunnen
00453623 Pat39 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - MAT1A 1 1 Johan den Dunnen
00453624 Pat40 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - MCCC1 2 1 Johan den Dunnen
00453625 Pat41 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - MCCC1 2 1 Johan den Dunnen
00453626 Pat42 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - MCCC1 2 1 Johan den Dunnen
00453627 Pat43 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - MCCC2 2 1 Johan den Dunnen
00453628 Pat44 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - MCCC2 2 1 Johan den Dunnen
00453629 Pat45 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - MCCC2 2 1 Johan den Dunnen
00453630 Pat46 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - MCCC2 2 1 Johan den Dunnen
00453631 Pat47 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - MCCC2 1 1 Johan den Dunnen
00453632 Pat48 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - MCCC2 1 1 Johan den Dunnen
00453633 Pat49 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - MMAB 2 1 Johan den Dunnen
00453634 Pat50 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - MMACHC 1 1 Johan den Dunnen
00453635 Pat51 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - MMADHC 1 1 Johan den Dunnen
00453636 Pat52 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - MMADHC 1 1 Johan den Dunnen
00453637 Pat53 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - MUT 2 1 Johan den Dunnen
00453638 Pat54 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - MUT 1 1 Johan den Dunnen
00453639 Pat55 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - OTC 1 1 Johan den Dunnen
00453640 Pat56 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453641 Pat57 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453642 Pat58 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453643 Pat59 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 1 1 Johan den Dunnen
00453644 Pat60 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453645 Pat61 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453646 Pat62 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453647 Pat63 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453648 Pat64 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453649 Pat65 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453650 Pat66 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453651 Pat67 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453652 Pat68 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453653 Pat69 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453654 Pat70 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453655 Pat71 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453656 Pat72 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453657 Pat73 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453658 Pat74 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453659 Pat75 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 1 1 Johan den Dunnen
00453660 Pat76 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453661 Pat77 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453662 Pat78 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453663 Pat79 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453664 Pat80 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PAH 2 1 Johan den Dunnen
00453665 Pat81 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PCCB 1 1 Johan den Dunnen
00453666 Pat82 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - PRODH 2 1 Johan den Dunnen
00453667 Pat83 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - SLC22A5 2 1 Johan den Dunnen
00453668 Pat84 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADM, SLC22A5 2 1 Johan den Dunnen
00453669 Pat85 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ETFA, ETFDH 2 1 Johan den Dunnen
00453670 Pat86 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - CUBN, TCN1 2 1 Johan den Dunnen
00453671 Pat87 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADM 1 1 Johan den Dunnen
00453672 Pat88 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADM 1 1 Johan den Dunnen
00453673 Pat89 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots - ACADM 1 1 Johan den Dunnen
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