Phenotypes for disease #00174 (FH (hypercholesterolemia, familial (FH)))

2937 entries on 30 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000043041 see paper; 18 DCLN points, LDLC 13.25 mmol/L, arcus cornealis (HP:0001084), no xanthelasma (-HP:0001114), tendious xanthomas (HP:0010874; tuberous, no planar), tendinous xanthomata (HP:0000991), cardiomegaly (HP:0001640), ... - - Familial, autosomal recessive 11y - - - - Jagdish Kaur Chahil 00034385
0000043042 see paper; 14 DCLN points, LDLC 17.38 mmol/L, no arcus cornealis (-HP:0001084), no xanthelasma (-HP:0001114), xanthomas (HP:0010874; planar, no tuberous), no tendinous xanthomata (-HP:0000991), no cardiomegaly (-HP:0001640), ... - - Familial, autosomal recessive 9y - - - - Jagdish Kaur Chahil 00056431
0000045207 - - - Familial, autosomal dominant 34y 35y 27y LDL-C 7 mmol/l - Dominika Gabcova 00058615
0000045208 - - - Familial, autosomal dominant 49y 50y 36y - - Dominika Gabcova 00058616
0000045209 TC 11.2 mmol/l LDL-C 8.6 TAG 3.0 - - Familial, autosomal dominant 24y 25y 22y - - Dominika Gabcova 00058617
0000045210 TC 7.8 mmol/l LDL-C 6.5 - - Familial, autosomal dominant 28y 14y 29y - - Dominika Gabcova 00058618
0000045211 TC 10.3 mmol/l LDL-C 8.8 TAG 1.6 - - Familial, autosomal dominant 48y 18y 49y - - Dominika Gabcova 00058619
0000045212 TC 10 mmol/l LDL-C 8 TAG 1.6 - - Familial, autosomal dominant 17y 18y 17y - - Dominika Gabcova 00058620
0000045213 TC 9 mmol/l LDL-C 5 mmol/l TG 1 mmol/l - - Familial, autosomal dominant 29y 24y 30y - - Dominika Gabcova 00058621
0000045214 - - - Familial, autosomal dominant 24y 22y 25y - - Dominika Gabcova 00058622
0000045215 TC 9.1 mmol/l LDL-C 6.6 TAG 1.1 - - Familial, autosomal dominant 59y 52y 60y - - Dominika Gabcova 00058623
0000045216 TC 10.8 mmol/l LDL-C 8.8 mmol/l TAG 2 mmol/l - - Familial, autosomal dominant 48y 48y 49y - - Dominika Gabcova 00058624
0000045217 TC 7.4 mmol/l LDL-C 5.6 mmol/l TAG 0.9 mmol/l - - Familial, autosomal dominant 44y 41y 45y - - Dominika Gabcova 00058625
0000045414 TC 7.9 mmol/l LDL-C 6 mmol/l TAG 1.1 mmol/l - - Familial, autosomal dominant 11y 12y 10y - - Dominika Gabcova 00058823
0000046801 - - - Unknown - - - - - Sarah Leigh 00060318
0000046802 - - - Unknown - - - - - Sarah Leigh 00060319
0000046803 - - - Unknown - - - - - Sarah Leigh 00060320
0000046804 - - - Unknown - - - - - Sarah Leigh 00060321
0000046805 Hmz phenotype, 48yr old female, MI, CVD, stents, TC 483mg/dl, LDL-C 393mg/dlm TG 282mg/dl, poor response to statins. No family history or samples because patient is adopted - - Unknown - - - - - Sarah Leigh 00060322
0000046806 - - - Unknown - - - - - Sarah Leigh 00060323
0000046807 probable familial hypercholesterolemia - - Unknown - - - - - Sarah Leigh 00060324
0000046808 - - - Unknown - - - - - Sarah Leigh 00060325
0000046809 - - - Unknown - - - - - Sarah Leigh 00060326
0000046810 - - - Unknown - - - - - Sarah Leigh 00060327
0000046811 - - - Unknown - - - - - Sarah Leigh 00060328
0000046812 - - - Unknown - - - - - Sarah Leigh 00060329
0000046813 definite familial hypercholesterolemia - - Unknown - - - - - Sarah Leigh 00060330
0000046814 - - - Unknown - - - - - Sarah Leigh 00060331
0000046815 - - - Unknown - - - - - Sarah Leigh 00060332
0000046816 62yr old male, TC, LDL-C , HDL-C , TG , TX, acute MI or angina pectoris - - Unknown - - - - - Sarah Leigh 00060333
0000046817 - - - Unknown - - - - - Sarah Leigh 00060334
0000046818 - - - Unknown - - - - - Sarah Leigh 00060335
0000046819 - - - Unknown - - - - - Sarah Leigh 00060336
0000046820 - - - Unknown - - - - - Sarah Leigh 00060337
0000046821 - - - Unknown - - - - - Sarah Leigh 00060338
0000046822 - - - Unknown - - - - - Sarah Leigh 00060339
0000046823 definite familial hypercholesterolemia - - Unknown - - - - - Sarah Leigh 00060340
0000046824 definite familial hypercholesterolemia - - Unknown - - - - - Sarah Leigh 00060341
0000046825 - - - Unknown - - - - - Sarah Leigh 00060342
0000046826 - - - Unknown - - - - - Sarah Leigh 00060343
0000046827 - - - Unknown - - - - - Sarah Leigh 00060344
0000046828 - - - Unknown - - - - - Sarah Leigh 00060345
0000046829 - - - Unknown - - - - - Sarah Leigh 00060346
0000046830 - - - Unknown - - - - - Sarah Leigh 00060347
0000046831 - - - Unknown - - - - - Sarah Leigh 00060348
0000046832 - - - Unknown - - - - - Sarah Leigh 00060349
0000046833 - - - Unknown - - - - - Sarah Leigh 00060350
0000046834 - - - Unknown - - - - - Sarah Leigh 00060351
0000046835 Untreated TC 13.3 mmol/L, LDL-C 10.9 mmol/L, HDL 1.6 mmol/L, TG 1.8 mmol/L. No relative available to screen - - Unknown - - - - - Sarah Leigh 00060352
0000046836 definite familial hypercholesterolemia - - Unknown - - - - - Sarah Leigh 00060353
0000046837 - - - Unknown - - - - - Sarah Leigh 00060354
0000046838 - - - Unknown - - - - - Sarah Leigh 00060355
0000046839 - - - Unknown - - - - - Sarah Leigh 00060356
0000046840 - - - Unknown - - - - - Sarah Leigh 00060357
0000046841 - - - Unknown - - - - - Sarah Leigh 00060358
0000046842 DLCNC score 6 - - Unknown - - - - - Sarah Leigh 00060359
0000046843 16 yr old male TC 6 mmol /L, LDL-C 4.3mmol /L , HDL-C 1.1mmol /L, TG 0.6mmol /L - - Unknown - - - - - Sarah Leigh 00060360
0000046844 13 yr old male TC 5.8 mmol /L, LDL-C 3.2mmol /L , HDL-C1.23mmol /L, TG 1.6mmol /L - - Unknown - - - - - Sarah Leigh 00060361
0000046845 11 yr old female TC 7.4 mmol /L, LDL-C 5.9mmol /L , HDL-C1.3mmol /L, TG 1mmol /L - - Unknown - - - - - Sarah Leigh 00060362
0000046846 - - - Unknown - - - - - Sarah Leigh 00060363
0000046847 - - - Unknown - - - - - Sarah Leigh 00060364
0000046848 probable familial hypercholesterolemia - - Unknown - - - - - Sarah Leigh 00060365
0000046849 - - - Unknown - - - - - Sarah Leigh 00060366
0000046850 probable familial hypercholesterolemia - - Unknown - - - - - Sarah Leigh 00060367
0000046851 - - - Unknown - - - - - Sarah Leigh 00060368
0000046852 - - - Unknown - - - - - Sarah Leigh 00060369
0000046853 - - - Unknown - - - - - Sarah Leigh 00060370
0000046854 - - - Unknown - - - - - Sarah Leigh 00060371
0000046855 - - - Unknown - - - - - Sarah Leigh 00060372
0000046856 - - - Unknown - - - - - Sarah Leigh 00060373
0000046858 - - - Unknown - - - - - Sarah Leigh 00060375
0000046859 20 yrs old female clinically hmz from consanguinous parents. 26.0 mmol/L9 (TC?), TX, MI at 18 years. - - Unknown - - - - - Sarah Leigh 00060376
0000046860 - - - Unknown - - - - - Sarah Leigh 00060377
0000046861 - - - Unknown - - - - - Sarah Leigh 00060378
0000046862 - - - Unknown - - - - - Sarah Leigh 00060379
0000046863 - - - Unknown - - - - - Sarah Leigh 00060380
0000046864 (1) TC 9·1, TG 1·1, HDL-C 1·4, LDL-C 7·2mmol/l. (2) TC 9·8, TG 1·0, HDL-C 0·5, LDL-C 8·8mmol/l. Neither had XT or CHD - - Unknown - - - - - Sarah Leigh 00060381
0000046865 - - - Unknown - - - - - Sarah Leigh 00060382
0000046866 - - - Unknown - - - - - Sarah Leigh 00060383
0000046867 - - - Unknown - - - - - Sarah Leigh 00060384
0000046868 - - - Unknown - - - - - Sarah Leigh 00060385
0000046869 - - - Unknown - - - - - Sarah Leigh 00060386
0000046870 - - - Unknown - - - - - Sarah Leigh 00060387
0000046871 - - - Unknown - - - - - Sarah Leigh 00060388
0000046872 - - - Unknown - - - - - Sarah Leigh 00060389
0000046873 - - - Unknown - - - - - Sarah Leigh 00060390
0000046874 - - - Unknown - - - - - Sarah Leigh 00060391
0000046875 - - - Unknown - - - - - Sarah Leigh 00060392
0000046876 - - - Unknown - - - - - Sarah Leigh 00060393
0000046877 - - - Unknown - - - - - Sarah Leigh 00060394
0000046878 - - - Unknown - - - - - Sarah Leigh 00060395
0000046879 - - - Unknown - - - - - Sarah Leigh 00060396
0000046880 - - - Unknown - - - - - Sarah Leigh 00060397
0000046881 - - - Unknown - - - - - Sarah Leigh 00060398
0000046882 - - - Unknown - - - - - Sarah Leigh 00060399
0000046883 - - - Unknown - - - - - Sarah Leigh 00060400
0000046884 - - - Unknown - - - - - Sarah Leigh 00060401
0000046885 - - - Unknown - - - - - Sarah Leigh 00060402
0000046886 - - - Unknown - - - - - Sarah Leigh 00060403
0000046887 TC 13·3, TG 4·2, HDL-C 1·8, LDL-C 9·6mmol/l, no TX or CHD - - Unknown - - - - - Sarah Leigh 00060404
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