Disease #05543 (CGL (lipodystrophy, generalized, congenital (CGL)))

Official abbreviation CGL
Name lipodystrophy, generalized, congenital (CGL)
OMIM ID -
Inheritance -
Individuals reported having this disease 34
Phenotype entries for this disease 34
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2018-12-28 09:50:52 +01:00 (CET)
Date last edited N/A


Individuals

34 entries on 1 page. Showing entries 1 - 34.
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00210630 19726876.P1 PubMed: Hayashi 2009 no changes in CAV3, LMNA, AGPAT2, CAV1, PPARG, AKT2, ZMPSTE24 F - Japan - >8y - - - CGL no acanthosis nigricans, hepatosplenomegaly, reduced growth hormone secretion, distal dominant muscle weakness, muscle mounding, muscle hypertrophy, caridac arrhythmia, lordosis, contractures (ankles, shoulders, fingers), constipation; CPK 1374; no intellectual disability PTRF PTRF 1 1 Johan den Dunnen
00210631 19726876.P2 PubMed: Hayashi 2009 no changes in CAV3, LMNA, AGPAT2, BSCL2, CAV1, PPARG, AKT2, ZMPSTE24 F - Japan - >14y - - - CGL no acanthosis nigricans, fatty liver, no muscle weakness, myalgia, muscle stiffness, transient IgA deficiency, recurrent pneumonia; CPK 542-2253; no intellectual disability PTRF PTRF 1 1 Johan den Dunnen
00210632 19726876.P3 PubMed: Hayashi 2009 no changes in CAV3, LMNA, AGPAT2, BSCL2, CAV1, PPARG, AKT2, ZMPSTE24 M - Japan - >10y - - - CGL no acanthosis nigricans, no muscle weakness, nephrosis; CPK 2000; no intellectual disability PTRF PTRF 1 1 Johan den Dunnen
00210633 19726876.P4 PubMed: Hayashi 2009 no changes in CAV3, LMNA, AGPAT2, BSCL2, CAV1, PPARG, AKT2, ZMPSTE24; both parents hypertension requiring medication M - Japan - >27y - - - CGL generalized lipodystrophy, no anathosis nigricans, hepatosplenomegaly, accelerated bone age, acromegaloid features, no androgynism, generalized muscle weakness, muscle mounding, muscle hypertrophy, atrial fibrillation, scoliosis, contractures ankles, umbilical prominence, renal stones; CPK 554-1545; no intellectual disability PTRF PTRF 1 1 Johan den Dunnen
00210634 19726876.P5 PubMed: Hayashi 2009 no changes in CAV3, LMNA, AGPAT2, BSCL2, CAV1, PPARG, AKT2, ZMPSTE24 M - Japan - >24y - - - CGL generalized lipodystrophy, no anathosis nigricans, hepatosplenomegaly, accelerated bone age, acromegaloid features, no androgynism, generalized muscle weakness, muscle mounding, muscle hypertrophy, atrial fibrillation, scoliosis, contractures ankles, umbilical prominence, renal stones; CPK 554-1545; no intellectual disability PTRF PTRF 2 1 Johan den Dunnen
00244842 Fam1Pat1 PubMed: Akinci 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - see paper CGL pseudoacromegaly, acanthosis nigricans, PCO, hypertension, diabetes, retinopathy, proteinuria, ESRD (renal transplantation), CAD, diabetic neuropathy, diabetic foot ulcer, toe amputation AGPAT2 AGPAT2 1 1 Johan den Dunnen
00244843 Fam2Pat1 PubMed: Akinci 2016 2-generation family, 2 affected, unaffected heterozygous carrier parents F - Turkey - - - - see paper CGL pseudoacromegaly, acanthosis nigricans, PCO, bone cysts, splenic artery aneurysm, hypertension diabetes, retinopathy, proteinuria, kidney failure, diabetic neuropathy, recurrent acute pancreatitis AGPAT2 AGPAT2 1 2 Johan den Dunnen
00244844 Fam2Pat2 PubMed: Akinci 2016 - M - Turkey - - - - see paper CGL pseudoacromegaly, acanthosis nigricans, bone cysts, diabetes, microalbuminuria AGPAT2 AGPAT2 1 1 Johan den Dunnen
00244845 Fam3Pat1 PubMed: Akinci 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - see paper CGL polycystic ovaries, acanthosis nigricans, hypertension, diabetes, proteinuria, diabetic neuropathy, recurrent acute pancreatitis AGPAT2 AGPAT2 1 1 Johan den Dunnen
00244846 Fam4Pat1 PubMed: Akinci 2016 2-generation family, 2 affected, unaffected heterozygous carrier parents F - Turkey - - - - see paper CGL bone cysts, toxic multinodular nodular goiter (received radioiodine), hypertension, diabetes, retinopathy, microalbuminuria, CAD; 62y-died AGPAT2 AGPAT2 1 2 Johan den Dunnen
00244847 Fam4Pat2 PubMed: Akinci 2016 - M - Turkey - - - - see paper CGL bone cysts, familial Mediterranean fever, hypertension, diabetes, proteinuria, ESRD (on hemodialysis), diabetic neuropathy AGPAT2 AGPAT2 1 1 Johan den Dunnen
00244848 Fam5Pat1 PubMed: Akinci 2016 2-generation family, 3 affected, unaffected heterozygous carrier parents F - Turkey - - - - see paper CGL bone cysts, seizures, atrial flutter, subclinical hypothyroidism, diabetes, elevated liver enzymes, proteinuria, renal failure, CAD; 62y-died AGPAT2 AGPAT2 1 3 Johan den Dunnen
00244849 Fam5Pat2 PubMed: Akinci 2016 - F - Turkey - - - - see paper CGL bone cysts, polycystic ovaries, acanthosis nigricans, diabetes, retinopathy, recurrent acute pancreatitis AGPAT2 AGPAT2 1 1 Johan den Dunnen
00244850 Fam5Pat3 PubMed: Akinci 2016 - F - Turkey - - - - see paper CGL bone cysts, IFG, IGT, elevated liver enzymes AGPAT2 AGPAT2 1 1 Johan den Dunnen
00244851 Fam6Pat1 PubMed: Akinci 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - see paper CGL diabetes, elevated liver enzymes, retinopathy, proteinuria, diabetic neuropathy, foot ulcer, amputation AGPAT2 AGPAT2 1 1 Johan den Dunnen
00244852 Fam7Pat1 PubMed: Akinci 2016 2-generation family, 2 affected, unaffected heterozygous carrier parents F - Turkey - - - - see paper CGL elevated HOMA score AGPAT2 AGPAT2 1 2 Johan den Dunnen
00244853 Fam7Pat2 PubMed: Akinci 2016 - M - Turkey - - - - see paper CGL IGT AGPAT2 AGPAT2 1 1 Johan den Dunnen
00244854 Fam8Pat1 PubMed: Akinci 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - see paper CGL elevated HOMA score, no hypertriglyceridemia AGPAT2 AGPAT2 1 1 Johan den Dunnen
00244855 Fam9Pat1 PubMed: Akinci 2016 2-generation family, 2 affected, unaffected heterozygous carrier parents M - Turkey - - - - see paper CGL pseudoacromegaly, elevated HOMA score, no hypertriglyceridemia AGPAT2 AGPAT2 1 2 Johan den Dunnen
00244856 Fam9Pat2 PubMed: Akinci 2016 - M - Turkey - - - - see paper CGL pseudoacromegaly, acanthosis nigricans, IFG, elevated liver enzymes, no hypertriglyceridemia AGPAT2 AGPAT2 1 1 Johan den Dunnen
00244857 Fam10Pat1 PubMed: Akinci 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Turkey - - - - see paper CGL pseudoacromegaly, no hypertriglyceridemia AGPAT2 AGPAT2 1 1 Johan den Dunnen
00244859 Fam11Pat1 PubMed: Akinci 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - see paper CGL pseudoacromegaly, acanthosis nigricans, polycystic ovaries, bone cysts, mild mental retardation, diabetes, retinopathy, microalbuminuria BSCL2 BSCL2 1 2 Johan den Dunnen
00244860 Fam11Pat2 PubMed: Akinci 2016 - M - Turkey - - - - see paper CGL pseudoacromegaly, acanthosis nigricans, bone cysts, mild mental retardation, diabetes, elevated liver enzymes, proteinuria BSCL2 BSCL2 1 1 Johan den Dunnen
00244861 Fam12Pat1 PubMed: Akinci 2016 - M - Turkey - - - - see paper CGL elevated HOMA score, elevated liver enzymes, cirrhosis BSCL2 BSCL2 1 1 Johan den Dunnen
00244862 Fam13Pat1 PubMed: Akinci 2016 - F - Turkey - - - - see paper CGL elevated HOMA score, elevated liver enzymes BSCL2 BSCL2 1 1 Johan den Dunnen
00244863 Fam14Pat1 PubMed: Akinci 2016 2-generation family, 3 affected, unaffected heterozygous carrier parents F - Turkey - - - - see paper CGL pseudoacromegaly, acanthosis nigricans, polycystic ovaries, mild mental retardation, diabetes, elevated liver enzymes, cirrhosis, retinopathy, proteinuria, ESRD (on hemodialysis), diabetic neuropathy, diabetic foot ulcer BSCL2 BSCL2 1 3 Johan den Dunnen
00244864 Fam14Pat2 PubMed: Akinci 2016 - M - Turkey - - - - see paper CGL pseudoacromegaly, acanthosis nigricans, mild mental retardation, cardiomyopathy, hypertension, diabetes, elevated liver enzymes BSCL2 BSCL2 1 1 Johan den Dunnen
00244865 Fam14Pat3 PubMed: Akinci 2016 - M - Turkey - - - - see paper CGL pseudoacromegaly, acanthosis nigricans, mild mental retardation, cardiomyopathy, diabetes, elevated liver enzymes, microalbuminuria BSCL2 BSCL2 1 1 Johan den Dunnen
00244866 Fam15Pat1 PubMed: Akinci 2016 - F - Turkey - - - - see paper CGL elevated HOMA score, elevated liver enzymes BSCL2 BSCL2 1 1 Johan den Dunnen
00244867 Fam16Pat1 PubMed: Akinci 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Turkey - - - - see paper CGL mild mental retardation, elevated liver enzymes BSCL2 BSCL2 1 2 Johan den Dunnen
00244868 Fam16Pat2 PubMed: Akinci 2016 - F - Turkey - - - - see paper CGL mild mental retardation, no hepatic steatosis BSCL2 BSCL2 1 1 Johan den Dunnen
00244869 Fam17Pat1 PubMed: Akinci 2016 - M - Turkey - - - - see paper CGL acanthosis nigricans, elevated HOMA score, elevated liver enzymes BSCL2 BSCL2 1 1 Johan den Dunnen
00244870 Fam18Pat1 PubMed: Akinci 2016 - F - Turkey - - - - see paper CGL myopathy, percussion-induced muscle mounding, exercise-induced atrial and ventricular arrhythmias, atlantoaxial instability, scoliosis, tight heel cords, gastrointestinal dysmotility, IFG, IGT, no hepatic steatosis PTRF PTRF 1 1 Johan den Dunnen
00244871 Fam19Pat1 PubMed: Akinci 2016 - F - Turkey - - - - see paper CGL myopathy, percussion-induced muscle mounding, exercise-induced atrial and ventricular arrhythmias, atlantoaxial instability, scoliosis, gastrointestinal dysmotility, IFG PTRF PTRF 1 1 Johan den Dunnen
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