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
PARENT terms
TERM
Elevated hepatic transaminases
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 | 210182![]() |
- | 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 | 210205![]() |
- | 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 | 210220![]() |
- | 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 | 210314![]() |
- | 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 | 210401![]() |
- | 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 | 210220![]() |
- | 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 | 210260![]() |
- | 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 | 210182![]() |
- | 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 | 210725![]() |
- | 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 | 214988![]() |
- | Turkish | Hepatopathy | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.D:II.1(P6)] |
103830 | F | 215256![]() |
- | European | Elevated hepatic transaminases | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.1:II.2(P1)] |
103834 | F | 215257![]() |
- | European | Elevated hepatic transaminases | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.2:II.3(P2)] |
103839 | M | 215258![]() |
- | European | Elevated hepatic transaminases | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.3:II.3(P3)] |
103844 | F | 215259![]() |
- | European | Elevated hepatic transaminases | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.4:II.2(P4)] |
103848 | M | 215260![]() |
- | European | Elevated hepatic transaminases | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.5:II.1(P5)] |
103997 | M | 215318![]() |
- | Elevated hepatic transaminases | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P1]; PMID:30092289 [P16] | |
104001 | F | 215322![]() |
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 | 215421![]() |
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 | 215522![]() |
- | Czech | Elevated circulating AST levels | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36932076 [P3(II.1)] |
104568 | F | 215551![]() |
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 | 215557![]() |
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 | 215568![]() |
14 | Lebanese | Elevated hepatic transaminases | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.1:II.1(P1)] |
104845 | F | 215579![]() |
- | 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 | 215613![]() |
- | 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 | 215640![]() |
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 | 215666![]() |
- | 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 | 210008![]() |
- | German | Hepatopathy | PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)] | |
105296 | F | 215686![]() |
- | 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 | 215686![]() |
- | 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 | 215686![]() |
- | 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 | 215701![]() |
- | 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 | 215762![]() |
- | 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 | 215771![]() |
- | 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 | 211370![]() |
- | 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 | 215852![]() |
- | 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 | 215881![]() |
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 | 216173![]() |
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).