Elevated hepatic transaminases

Basic details

Preferred term: Elevated hepatic transaminases
Alt. terms: Increased liver enzymes | elevated transaminases | Elevated liver enzymes | High liver enzymes

HPO term: Elevated hepatic transaminase
HPO code: HP:0002910

GenIA ID: 204
Last updated on: 2023-05-10 09:15:32

Cross ref. with other ontologies

NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -

Description

Elevations of the levels of liver enzymes such as ALT, AST, GGT, ASP or SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.

Hierarchical classification

Reported patients added to GenIA DB

SubjectID Sex Fam.ID Age* Population MatchedTerm Diagnosis Reference & Pub.codes
101024 F 210927 43 Hepatopathy PMID:34975878 [Fam.F009:P009]
101037 M 210182tree icon - Caucasian Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.B:II.4(B.II.3)]; PMID:30250467 [B.II.3]; PMID:29729943 [Fam.B:II.4(B.II.3 (15))]; PMID:27418640 [P13(5)]
101081 F 211315 46 Hepatopathy PMID:34975878 [Fam.F047:P047]
101088 M 211560 45 German Elevated hepatic transaminases PMID:34975878 [Fam.F054:P054]
101115 F 210778 38 Caucasian Hepatopathy NFKB1 insufficiency PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427]
101121 M 210784 46 German Hepatopathy PMID:34975878 [Fam.F072:P072]
101127 F 210318 46 German Hepatopathy PMID:34975878 [Fam.F077:P077]
101135 F 210574 19 Elevated hepatic transaminases PMID:34975878 [Fam.F084:P084]
101199 F 211483 - German Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.YY:II.1(127)]; PMID:34975878 [Fam.F122:P122]
101204 M 211492 55 German Elevated hepatic transaminases PMID:34975878 [Fam.F126:P126]
101228 M 210205tree icon - Caucasian Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.A:II.3(A.II.2)]; PMID:29729943 [Fam.A:II.3(A.II.2 (2))]
101313 F 212149 13 Lebanese Hepatopathy Immunodeficiency, common variable, 8 PMID:25468195 [Fam.B:II.2(P3)]; PMID:26707784 [P17]
101395 M 212167 - Egyptian Hepatopathy Immunodeficiency, common variable, 8 PMID:27683652 [P1(II.1)]
101461 M 210929 - German Hepatopathy NFKB1 insufficiency PMID:34975878 [Fam.F153:P153]; PMID:32278790 [Z.I.1]; PMID:29403474 [Patient 27 (11)]; PMID:27923702 [Patient 6]; PMID:150198 [Fam.AL:151]; PMID:27461466 [Fam.830_01:27]
101469 F 210220tree icon - German Hepatopathy NFKB1 insufficiency PMID:34975878 [Fam.F156:P156]; PMID:32278790 [Fam.089:II.2(II.2)]; PMID:26279205 [Fam.089:II.2(II2)]; PMID:29403474 [Fam.089 (5):II.2(II2)]; PMID:27923702 [Patient 5]; PMID:150198 [Fam.AB:IV.5(099)]; PMID:27461466 [Fam.089:II.2(25)]
101479 F 210314tree icon - German Hepatopathy NFKB1 insufficiency PMID:34975878 [Fam.F160:P160]; PMID:32278790 [Fam.BF:II.2(II.2)]; PMID:29403474 [Fam.(13):II.1(Patient 2)]; PMID:27923702 [Fam.191:II.1(Patient 2)]; PMID:150198 [Fam.AO:II.2(164)]; GRID:001142 [Fam.#:II.2(FR036)]
101488 M 210401tree icon - German Hepatopathy NFKB1 insufficiency PMID:34975878 [Fam.F163:P163]; PMID:32278790 [CG.I.1]; PMID:150198 [Fam.BW:II.1(350)]; PMID:31857261 [Patient 16]
101569 F 210220tree icon - German Hepatopathy NFKB1 insufficiency PMID:34975878 [Fam.F192:P192]; PMID:32278790 [AH.I.1]; PMID:150198 [Fam.AB:IV.3(097)]; PMID:31857261 [Patient 5]; GRID:001142 [FR023]
101717 F 210260tree icon - Caucasian Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.C:II.3(C.II.3)]; PMID:29729943 [Fam.C:II.3(C.II.3 (19))]; PMID:27418640 [P16(5)]
101726 M 210182tree icon - Caucasian Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.B:II.3(B.II.2)]; PMID:29729943 [Fam.B:II.3(B.II.2 (14))]
101767 F 210788 49 Hepatopathy PMID:34975878 [Fam.F249:P249]
102175 M 210725tree icon - Caucasian Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)]
102222 M 214917 - German Hepatopathy NFKB1 insufficiency PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C]
102786 F 214988tree icon - Turkish Hepatopathy Hyper-IgE recurrent infection syndrome 3 PMID:29907691 [Fam.D:II.1(P6)]
103830 F 215256tree icon - European Elevated hepatic transaminases Adenosine deaminase 2 deficiency PMID:24552284 [Fam.1:II.2(P1)]
103834 F 215257tree icon - European Elevated hepatic transaminases Adenosine deaminase 2 deficiency PMID:24552284 [Fam.2:II.3(P2)]
103839 M 215258tree icon - European Elevated hepatic transaminases Adenosine deaminase 2 deficiency PMID:24552284 [Fam.3:II.3(P3)]
103844 F 215259tree icon - European Elevated hepatic transaminases Adenosine deaminase 2 deficiency PMID:24552284 [Fam.4:II.2(P4)]
103848 M 215260tree icon - European Elevated hepatic transaminases Adenosine deaminase 2 deficiency PMID:24552284 [Fam.5:II.1(P5)]
103997 M 215318tree icon - Elevated hepatic transaminases Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P1]; PMID:30092289 [P16]
104001 F 215322tree icon 1 North American Elevated hepatic transaminases Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P5]; PMID:32392079 [P3]; PMID:30092289 [P15]; PMID:35677041 [Pt3]; PMID:33651637 [Patient 1]
104237 M 215421tree icon 0 European/American Elevated circulating AST levels Systemic early-onset autoinflammation, vasculitis and hepatopathy PMID:36122175 [ref.8]; PMID:36932076 [P1(II.3)]; GRID:000818 [Patient]; GRID:000819 [pt.1]
104351 M 215490 10 Caucasian Elevated hepatic transaminases Hyper-IgE recurrent infection syndrome 1 PMID:26292779 [H1]
104398 M 215522tree icon - Czech Elevated circulating AST levels Systemic early-onset autoinflammation, vasculitis and hepatopathy PMID:36932076 [P3(II.1)]
104568 F 215551tree icon 0 Pakistani Elevated circulating ALT levels Autoinflammation, panniculitis, and dermatosis syndrome PMID:27523608 [Fam.1:IV.3(IV:3)]; PMID:32231246 [IV:3(IV.3)]; PMID:27559085 [Fam.1:IV.1(P4)]; PMID:38914362 [Fam.A:V.6(027)]
104612 M 215557tree icon 7 Greek Elevated circulating AST levels Autoinflammation, panniculitis, and dermatosis syndrome PMID:35170849 [Patient(II.2)]; PMID:38914362 [Fam.F:II.2(069)]
104671 F 215568tree icon 14 Lebanese Elevated hepatic transaminases Severe early onset systemic inflammation and autoimmunity PMID:37349293 [Fam.1:II.1(P1)]
104845 F 215579tree icon - European Hepatopathy NFKB1 insufficiency PMID:32278790 [Fam.NZ:II.2(II.2)]; PMID:26279205 [Fam.NZ:II.2(II2)]; PMID:29403474 [Fam.NZ (5):II.2(II2)]; PMID:29806948 [Fam.NZ:II.2(II.2)]; PMID:30323807 [Fam.2:II.2(II.2)]; PMID:150198 [Fam.AC:II.2(109)]
104886 F 215613tree icon - Caucasian Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)]
105088 M 215638 - Japanese Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:26644313 [II.3(II.3)]; PMID:30250467 [M.II.3]; PMID:29729943 [Fam.M:II.3(M.II.3 (37))]; PMID:27418640 [P21(II.3)]; PMID:35087518 [11.1]
105102 M 215640tree icon 19 European Elevated hepatic transaminases NFKB1 insufficiency PMID:32278790 [Fam.A:III.3(III.3)]; PMID:29477724 [Fam.A:III.3(III:3)]; PMID:150198 [Fam.AU:III.3(236)]; PMID:32918165 [Fam.A:III.3(Index)]
105212 F 215666tree icon - Finnish Hepatopathy NFKB1 insufficiency PMID:32278790 [Fam.F1:II.4(II.4)]; PMID:29403474 [Fam.1 (9):II.4(F1.II-4)]; PMID:28115215 [Fam.1:II.4(F1.II-4)]; PMID:150198 [Fam.AQ:II.4(174)]; PMID:36356849 [Fam.6:II.4(F6:II:4)]; PMID:36105815 [Fam.H67R:II.4(H67R/2)]
105256 F 210008tree icon - German Hepatopathy PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)]
105296 F 215686tree icon - European Elevated hepatic transaminases NFKB1 insufficiency PMID:32278790 [Fam.C:I.2(I.2)]; PMID:29477724 [Fam.C:I.2(I:2)]; PMID:150198 [Fam.AW:I.2(246)]
105301 M 215686tree icon - European Hepatopathy NFKB1 insufficiency PMID:32278790 [Fam.C:II.4(II.3)]; PMID:29477724 [Fam.C:II.4(II:3)]; PMID:150198 [Fam.AW:II.3(249)]
105302 M 215686tree icon - European Hepatopathy NFKB1 insufficiency PMID:32278790 [Fam.C:II.5(II.5)]; PMID:29477724 [Fam.C:II.5(II:5)]; PMID:150198 [Fam.AW:II.5(251)]
105335 U 215697 - European Hepatopathy NFKB1 insufficiency PMID:32278790 [P.II.1]; PMID:29477724 [Fam.P:II.1(II:1)]; PMID:150198 [Fam.BJ:288]
105337 U 215699 - European Elevated hepatic transaminases NFKB1 insufficiency PMID:32278790 [I.II.1]; PMID:29477724 [Fam.I:II.1(I:II-1)]; PMID:150198 [Fam.BC:268]
105339 F 215701tree icon - Pakistani Elevated hepatic transaminases Immunodeficiency 87 PMID:31308374 [Fam.A:III.4(P1)]
105353 F 215715 10 Turkish Elevated hepatic transaminases Immunodeficiency, common variable, 8 PMID:26686526 [P1]
105412 F 215762tree icon - Caucasian Hepatopathy NFKB1 insufficiency PMID:32278790 [Fam.BB:I.1(I.1)]; PMID:30063981 [Fam.1:II.2(II.2)]; PMID:150198 [Fam.BM:II.3(300)]
105458 M 215771tree icon - Caucasian Hepatopathy NFKB1 insufficiency PMID:32278790 [BO.I.1]; PMID:150198 [Fam.BV:II.5(344)]; PMID:31803180 [Fam.E:II.4(S9)]; PMID:36105815 [Fam.R157P:II.5(S9)]; PMID:34619682 [P.210]
105647 M 215832 - Elevated hepatic transaminases Immunodeficiency, common variable, 8 PMID:34368306 [Patient 3]
105714 M 211370tree icon - Turkish Hepatopathy NFKB1 insufficiency PMID:32278790 [Fam.AJ:III.1(III.1)]; PMID:150198 [Fam.BZ:III.1(380)]; GRID:001142 [Fam.*:III.1(FR095)]
105740 U 215845 - Hepatopathy NFKB1 insufficiency PMID:32278790 [R.I.1]; PMID:150198 [Fam.CI:425]
105741 F 215846 - Indian Hepatopathy NFKB1 insufficiency PMID:32278790 [T.I.1]; PMID:150198 [Fam.CJ:426]
105742 F 215847 - Brasilian Hepatopathy NFKB1 insufficiency PMID:32278790 [AD.I.1]; PMID:150198 [Fam.CL:428]
105747 F 215852tree icon - Dutch Hepatopathy NFKB1 insufficiency PMID:32278790 [Fam.AM:II.1(II.1)]; PMID:150198 [Fam.CA:II.1(399)]
105773 M 215866 -,- German Elevated hepatic transaminases,Hepatopathy NFKB1 insufficiency PMID:32278790 [BU.I.1]; PMID:150198 [Fam.DF:463]; PMID:36105815 [A245V]
105780 F 215873 - German Hepatopathy NFKB1 insufficiency PMID:32278790 [CD.I.1]; PMID:150198 [Fam.DO:475]
105799 M 215881tree icon 1 Pakistani Elevated hepatic transaminases Combined immunodeficiency 41 PMID:32980423 [Fam.1:V.2(1.V.2)]; PMID:150198 [Fam.DS:V.2(506)]
105910 F 215905 51 Caucasian Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [K.II.1]; PMID:29729943 [Fam.K:II.1(K.II.1 (33))]
106047 F 215930 - Caucasian Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))]
106057 F 210991 - Caucasian Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.NN:II.8(NN.II.6 (90))]
106094 M 215947 - Caucasian Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.VV:II.1(VV.II.1 (124))]
106242 F 215977 - Caucasian Hepatopathy PMID:29729943 [Fam.UU:II.4(UU.II.2 (106))]; PMID:29305966 [Fam.IV.2:II.2(II.1)]
106251 M 215977 - Caucasian Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.UU:III.13(UU.III.9 (112))]; PMID:29305966 [Fam.IV.2:III.7(III.3)]
106259 F 215977 - Caucasian Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.UU:III.2(UU.III.2 (107))]; PMID:29305966 [Fam.IV.2:III.12(III.4)]
106274 M 215977 - Caucasian Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.UU:IV.2(UU.IV.2 (115))]; PMID:29305966 [Fam.IV.2:IV.11(IV.7)]
106348 M 215995 62 Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [CO.I.1(I.1)]; PMID:34111452 [CO.I.1 (173)]
106642 F 216097 2 European Elevated hepatic transaminases CTLA4 haploinsufficiency with autoimmune infiltration PMID:31396201 [Fam.:II.1(P1)]
106669 M 216103 - Hepatopathy NFKB1 insufficiency PMID:150198 [Fam.EE:565]; PMID:35281075 [5]
106857 F 216173tree icon 0 Caucasian Elevated hepatic transaminases Adenosine deaminase 2 deficiency PMID:31008556 [Fam.5:II.2(P6)]
106892 M 216183 - Caucasian Elevated hepatic transaminases Immunodeficiency, common variable, 17 PMID:27231034 [Fam.F1:III.3(P1.1)]
106895 M 216183 - Caucasian Elevated hepatic transaminases Immunodeficiency, common variable, 17 PMID:27231034 [Fam.F1:III.6(P1.2)]
107045 M 216284 - Hepatopathy Activated p110-delta syndrome 1 PMID:28428270 [P1]
107096 F 216332 2 Japanese Hepatopathy Infantile-Onset Multisystem Autoimmune Disease 1 PMID:33501615 [P3]
107107 M 216336 - Hepatopathy Hyper-IgE recurrent infection syndrome 1 PMID:33864888 [S097]
107143 M 216360 - Turkish Elevated hepatic transaminases Adenosine deaminase 2 deficiency PMID:26233953 [Fam.F3:P4]

*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).