Hepatopathy

Basic details

Preferred term: Hepatopathy
Alt. terms: Liver abnormality | Liver disease | Abnormality of the liver

HPO term: Abnormality of the liver
HPO code: HP:0001392

GenIA ID: 157
Last updated on: 2021-12-10 17:55:48

Cross ref. with other ontologies

NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: K76.9

Description

Any abnormality of the liver

Hierarchical classification

Reported patients added to GenIA DB

SubjectID Sex Fam.ID Age* Population MatchedTerm Diagnosis Reference & Pub.codes
101017 F 210232 51 German Hepatomegaly PMID:34975878 [Fam.F003:P003]
101019 F 210316 46 German Hepatic steatosis PMID:34975878 [Fam.F004:P004]
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)]
101043 M 210725tree icon - Caucasian Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017]
101051 F 210205tree icon 30 Caucasian Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.A:III.5(A.III.1)]; PMID:30250467 [A.III.1]; PMID:29729943 [Fam.A:III.5(A.III.1 (8))]; PMID:34975878 [Fam.F018:III.1(P021)]; PMID:27418640 [P10(5)]
101059 M 211386 - Hepatomegaly PMID:34975878 [Fam.F030:P030]; PMID:31057532 [Fam.F:II.1]
101076 F 210226 51 German Hepatitis PMID:34975878 [Fam.F041:P041]
101077 F 210211 24 German Hepatomegaly PMID:34975878 [Fam.F043:P043]
101081 F 211315 46 Hepatopathy PMID:34975878 [Fam.F047:P047]
101082 F 211226 - Hepatomegaly Adenosine deaminase 2 deficiency PMID:34975878 [Fam.F048:P048]
101085 F 210196 36 Hepatic steatosis PMID:34975878 [Fam.F051:P051]
101086 M 210934 45 German Hepatic steatosis PMID:34975878 [Fam.F052:P052]
101088 M 211560 44 German Elevated hepatic transaminases PMID:34975878 [Fam.F054:P054]
101095 M 210286 4 Hepatomegaly PMID:34975878 [Fam.F060:P060]
101115 F 210778 37,38 Caucasian Hepatic steatosis,Hepatopathy NFKB1 insufficiency PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427]
101119 M 210264 19 Hepatic steatosis PMID:34975878 [Fam.F070:P070]
101121 M 210784 46 German Hepatopathy PMID:34975878 [Fam.F072:P072]
101125 M 210429 40 German Hepatic steatosis Immunodeficiency, common variable, 1 PMID:34975878 [Fam.F076:P076]; PMID:35486341 [P060]
101127 F 210318 46 German Hepatopathy PMID:34975878 [Fam.F077:P077]
101135 F 210574 19 Elevated hepatic transaminases PMID:34975878 [Fam.F084:P084]
101150 F 210736 - Hepatomegaly Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F093:P093]
101194 M 212378 - Egyptian Hepatomegaly Hyper-IgE recurrent infection syndrome 1 PMID:34390440 [HIES49]
101199 F 211483 -,- German Hepatomegaly,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]
101207 F 211502 - Hepatic steatosis PMID:34975878 [Fam.F130:P130]
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))]
101260 M 212144 7 Iranian Hepatomegaly Immunodeficiency, common variable, 8 PMID:22608502 [Fam.C:II.1(P4)]; PMID:29528757 [Case 7]; PMID:26707784 [P4]; PMID:26993986 [F6]; PMID:28512785 [P14]
101313 F 212149 10,13 Lebanese Hepatomegaly,Hepatopathy Immunodeficiency, common variable, 8 PMID:25468195 [Fam.B:II.2(P3)]; PMID:26707784 [P17]
101328 M 212151 - Moroccan Hepatomegaly Immunodeficiency, common variable, 8 PMID:28473463 [Fam.2:II.1(2.2)]
101336 M 212152 - Omani Hepatomegaly Immunodeficiency, common variable, 8 PMID:28473463 [Fam.3 :II.1]
101369 M 212161 - Turkish Hepatomegaly Immunodeficiency, common variable, 8 PMID:30479781 [P1(V.1)]
101371 M 212161 - Turkish Hepatomegaly Immunodeficiency, common variable, 8 PMID:30479781 [Fam.P1:V.2(P2)]
101375 F 212162 3 Iranian Hepatomegaly Immunodeficiency, common variable, 8 PMID:29461210 [Fam.1:II.1(P1)]; PMID:29528757 [Case 3]; PMID:26707784 [Fam.F:IV.1(P30)]; PMID:25011360 [Case 2]; PMID:26993986 [Fam.F7:II.1(1)]; PMID:28512785 [P8]
101376 F 212162 - Iranian Hepatomegaly Immunodeficiency, common variable, 8 PMID:29461210 [Fam.1:II.2(P2)]; PMID:29528757 [Case 4]; PMID:26707784 [Fam.F:IV.2(P31)]; PMID:26993986 [Fam.F7:II.2(2)]; PMID:28512785 [P9]
101379 M 212163 - Iranian Hepatomegaly Immunodeficiency, common variable, 8 PMID:29461210 [Fam.2:II.2(P3)]; PMID:26707784 [Fam.C:IV.4(P25)]; PMID:26993986 [F4]; PMID:28512785 [P10]
101391 F 211018 - Hepatomegaly PMID:34975878 [Fam.F137:P137]
101395 M 212167 - Egyptian Hepatopathy Immunodeficiency, common variable, 8 PMID:27683652 [P1(II.1)]
101408 M 212168 5 Hepatomegaly Immunodeficiency, common variable, 8 PMID:27057999 [Fam.II.2:II.1]
101416 M 212169 7 Turkish Hepatomegaly Immunodeficiency, common variable, 8 PMID:27146671 [Patient(II.1)]
101421 F 212170 6 Iranian Hepatomegaly Immunodeficiency, common variable, 8 PMID:26707784 [Fam.B:IV.1(P24)]; PMID:26993986 [F5]; PMID:28512785 [P15]
101424 M 212172 8 Iranian Hepatomegaly Immunodeficiency, common variable, 8 PMID:29528757 [Case 6]; PMID:26707784 [Fam.D:IV.1(P27)]; PMID:26993986 [F8]; PMID:28512785 [P13]
101426 M 212173 3 Iranian Hepatomegaly Immunodeficiency, common variable, 8 PMID:29528757 [Case 2]; PMID:26707784 [Fam.E:IV.2(P28)]; PMID:26993986 [Fam.F17:II.1(1)]; PMID:28512785 [P7]
101435 F 212171 4 Lebanese Hepatomegaly Immunodeficiency, common variable, 8 PMID:26707784 [P29(II.1)]
101458 F 210656tree icon - Georgian Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.E:II.3(E.II.3)]; PMID:29729943 [Fam.E:II.3(E.II.3 (23))]; PMID:27418640 [P19(5)]
101461 M 210929 -,- German Hepatomegaly,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]
101462 M 210006 11 Hepatomegaly Infantile-Onset Multisystem Autoimmune Disease 1 PMID:34975878 [Fam.F154:P154]
101469 F 210220tree icon -,- German Hepatomegaly,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)]
101473 F 212398 1 Spanish Hepatomegaly Immunodeficiency, common variable, 8 PMID:30386343 [Patient(II.1)]
101479 F 210314tree icon -,- German Hepatic hemangioma,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 Hepatomegaly,Hepatopathy NFKB1 insufficiency PMID:34975878 [Fam.F163:P163]; PMID:32278790 [CG.I.1]; PMID:150198 [Fam.BW:II.1(350)]; PMID:31857261 [Patient 16]
101514 M 210220tree icon - German Hepatic hemangioma NFKB1 insufficiency PMID:32278790 [Fam.089:I.1(I.1)]; PMID:26279205 [Fam.089:I.1(I1)]; PMID:29403474 [Fam.089 (5):I.1(I1)]; PMID:150198 [Fam.AB:III.3(093)]; PMID:27461466 [Fam.089:I.1(24)]
101553 M 210256 - German Hepatomegaly Infantile-Onset Multisystem Autoimmune Disease 1 PMID:34975878 [Fam.F182:P182]
101569 F 210220tree icon -,- German Hepatomegaly,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]
101578 M 210205tree icon - German Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.A:II.14(A.II.8)]; PMID:29729943 [Fam.A:II.14(A.II.8 (5))]; PMID:27418640 [P8(5)]
101669 M 211549 - Hepatomegaly PMID:34975878 [Fam.F234:P234]
101717 F 210260tree icon -,7 Caucasian Hepatomegaly,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))]
101753 M 210024 - Japanese Hepatomegaly Immunodeficiency, common variable, 8 PMID:26768763 [Fam.553:II.1(P10)]
101755 M 210025 12 North American Hepatomegaly Immunodeficiency, common variable, 8 PMID:26768763 [Fam.604:II.1(P12)]; PMID:26206937 [P1(II.1)]
101764 F 210031 - Dutch Hepatomegaly Immunodeficiency, common variable, 8 PMID:26768763 [Fam.656:P19]
101767 F 210788 49 Hepatopathy PMID:34975878 [Fam.F249:P249]
101772 M 210034 - Iranian Hepatomegaly Immunodeficiency, common variable, 8 PMID:26768763 [Fam.773:P22]; PMID:29528757 [Case 9]; PMID:28512785 [P17]
101774 M 210908tree icon - Argentinian Hepatitis Adenosine deaminase 2 deficiency PMID:28493328 [P9(II.1)]
101775 M 210908tree icon - Argentinian Hepatomegaly Adenosine deaminase 2 deficiency PMID:28493328 [Fam.P9:II.2(P10)]
101777 F 210920 - Libyan Hepatomegaly Immunodeficiency, common variable, 8 PMID:26745254 [P1(II.1)]
101788 M 210950tree icon - Swiss Hepatomegaly Adenosine deaminase 2 deficiency PMID:28493328 [P7(II.1)]
101789 M 210950tree icon - Swiss Hepatomegaly Adenosine deaminase 2 deficiency PMID:28493328 [Fam.P7:II.2(P8)]
101793 M 211028 - Hepatic hemangioma PMID:34975878 [Fam.F256:P256]
101798 M 211117 - Hepatitis Adenosine deaminase 2 deficiency PMID:28493328 [P11]
101799 M 211120 - Caucasian Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [Fam.XX:II.1]; PMID:29729943 [Fam.XX:II.1(126)]
101808 F 211441 - Hepatomegaly Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F265:P265]
101813 F 211525 - Hepatomegaly PMID:34975878 [Fam.F273:P273]
101871 F 210078 - Turkish Hepatomegaly Immunodeficiency 103, susceptibility to fungal infection PMID:34390440 [CMC03]
101959 M 210641 41 German Hepatomegaly Immunodeficiency, common variable, 1 PMID:15507387 [Fam.C:II.4(II.4)]; PMID:16384931 [Fam.C:II.4(P6)]; PMID:19426217 [Fam.C:II.4(P6)]; PMID:28861081 [Fam.3:II.4(P6)]
102065 M 214285 - Egyptian Hepatomegaly Hyper-IgE recurrent infection syndrome 2 PMID:34390440 [HIES23]
102092 F 214311 - Hepatomegaly Hyper-IgE recurrent infection syndrome 1 PMID:34390440 [HIES48]
102116 M 212357 - Egyptian Hepatomegaly Hyper-IgE recurrent infection syndrome 2 PMID:34390440 [HIES05]
102121 M 214345 - Egyptian Hepatomegaly Hyper-IgE recurrent infection syndrome 2 PMID:34390440 [HIES16]
102175 M 210725tree icon -,- Caucasian Hepatomegaly,Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)]
102180 F 214912 - Chinese (China) Hepatomegaly Severe combined immunodeficiency 9A, T-B- PMID:26476733 [P7]
102222 M 214917 -,57 German Hepatomegaly,Hepatopathy NFKB1 insufficiency PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C]
102509 M 214948tree icon 2 Irish Traveller Hepatomegaly Immunodeficiency 54 PMID:16532402 [Fam.A:IV.12(P3)]; PMID:22354167 [Fam.A:IV.12(P1.3)]
102719 F 214981tree icon 0 Canadian Hepatic cyst Autoinflammation, immune dysregulation, and eosinophilia PMID:28111307 [Fam.1:II.2(Patient)]; PMID:36546480 [Fam.1:II.2(II-2)]
102729 M 214981tree icon - Canadian Hepatic cyst Autoinflammation, immune dysregulation, and eosinophilia PMID:28111307 [Fam.1:III.1]; PMID:36546480 [Fam.1:III.1(III-1)]
102730 M 214981tree icon - Canadian Hepatic cyst Autoinflammation, immune dysregulation, and eosinophilia PMID:28111307 [Fam.1:III.2]; PMID:36546480 [Fam.1:III.2(III-2)]
102786 F 214988tree icon - Turkish Hepatopathy Hyper-IgE recurrent infection syndrome 3 PMID:29907691 [Fam.D:II.1(P6)]
103076 F 215099tree icon 2 Omani Hepatomegaly Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F5:V.5(P6)]
103454 M 215130tree icon 3 Saudi Hepatomegaly infantile-onset multisystem autoimmune disease-3 PMID:36006710 [Fam.2:II.2(P2)]
103541 M 215155tree icon - Mexican Hepatomegaly ARPC1B deficiency PMID:36708766 [Fam.B:II.1(P4)]
103542 M 215156tree icon - Mexican Hepatic failure ARPC1B deficiency PMID:36708766 [Fam.C:II.3(P5)]
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)]
103851 M 215261tree icon - British Hepatomegaly Adenosine deaminase 2 deficiency PMID:24552284 [Fam.6:II.2(P6)]
103859 M 215263tree icon - Turkish Hepatomegaly Adenosine deaminase 2 deficiency PMID:24552284 [Fam.8:II.1(P9)]; PMID:26233953 [Fam.F4: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]
104229 F 215420tree icon 42 German Hepatomegaly Polycystic liver disease 5 with or without kidney disease PMID:36478640 [II.3(II.3)]
104237 M 215421tree icon - European/American Hepatic fibrosis Systemic early-onset autoinflammation, vasculitis and hepatopathy PMID:36122175 [ref.8]; PMID:36932076 [P1(II.3)]; GRID:000818 [Patient]; GRID:000819 [pt.1]
104268 M 215444tree icon - Ashkenazi Jewish Renal colic Infantile-Onset Multisystem Autoimmune Disease 1 PMID:28153428 [Patient(II.2)]
104351 M 215490 10 Caucasian Elevated hepatic transaminases Hyper-IgE recurrent infection syndrome 1 PMID:26292779 [H1]
104392 F 215520tree icon - French Hepatomegaly Systemic early-onset autoinflammation, vasculitis and hepatopathy PMID:36122175 [Patient]
104398 M 215522tree icon - Czech Hepatic fibrosis Systemic early-onset autoinflammation, vasculitis and hepatopathy PMID:36932076 [P3(II.1)]
104568 F 215551tree icon - Pakistani Hepatic steatosis 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)]
104607 M 215556tree icon - Hepatomegaly X-linked multisystem autoinflammatory disease with immune dysregulation PMID:37342957 [Fam.A:II.3(P1)]
104612 M 215557tree icon 10 Greek Hepatic steatosis Autoinflammation, panniculitis, and dermatosis syndrome PMID:35170849 [Patient(II.2)]; PMID:38914362 [Fam.F:II.2(069)]
104630 M 215560tree icon - Hepatomegaly X-linked multisystem autoinflammatory disease with immune dysregulation PMID:37342957 [Fam.C:II.2(P3)]
104639 F 215562 13 Iraqi Hepatitis Immunodeficiency 91 and hyperinflammation PMID:33872655 [Fam.A:II.2(P1.2)]
104642 F 215562 1 Iraqi Hepatomegaly Immunodeficiency 91 and hyperinflammation PMID:33872655 [Fam.A:II.1(P1.1)]
104671 F 215568tree icon - Lebanese Elevated hepatic transaminases Severe early onset systemic inflammation and autoimmunity PMID:37349293 [Fam.1:II.1(P1)]
104790 M 215574tree icon - Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.B:I.1(B.I.1)]; PMID:27418640 [P3(4)]
104845 F 215579tree icon -,- European Hepatomegaly,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)]
104847 M 215581 0 Egyptian Hepatomegaly Omenn syndrome 2 PMID:30307608 [2]
104848 F 215582 0 Egyptian Hepatomegaly Omenn syndrome 2 PMID:30307608 [3]
104849 F 215583 0 Egyptian Hepatomegaly Omenn syndrome 2 PMID:30307608 [4]
104851 M 215585 0 Egyptian Hepatomegaly Omenn syndrome 3 PMID:30307608 [6]
104855 F 215589 0 Egyptian Hepatomegaly Omenn syndrome 3 PMID:30307608 [7]
104881 F 215608 - Egyptian Hepatomegaly Severe combined immunodeficiency 10A, T-B+ PMID:30307608 [27]
104886 F 215613tree icon -,- Caucasian Hepatomegaly,Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)]
104916 M 215613tree icon - Caucasian Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [G.III.2]; PMID:29729943 [Fam.G:III.2(G.III.2 (27))]; PMID:25367873 [Fam.1:III.5(III.5)]
104942 F 215622tree icon - Dutch Nodular regenerative hyperplasia of liver NFKB1 insufficiency PMID:32278790 [Fam.NA:III.18(III.18)]; PMID:26279205 [Fam.NL1:III.19(57)]; PMID:29403474 [Fam.NL1 (5):III.19(57)]; PMID:150198 [Fam.AA:III.19(045)]; PMID:35242131 [Fam.2:I.1(P2)]
105088 M 215638 24,- Japanese Hepatitis,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]
105093 F 215639tree icon - Israeli Hepatomegaly NFKB1 insufficiency PMID:32278790 [Fam.AA:II.2(II.2)]; PMID:29403474 [Patient 2 (8)]; PMID:27365489 [Fam.2:II.2(Pat.2)]; PMID:150198 [Fam.AF:II.2(127)]
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)]
105105 F 215643tree icon 18 Caucasian Hepatomegaly NFKB1 insufficiency PMID:32278790 [Fam.AB:II.1(II.1)]; PMID:29403474 [Fam.(7):II.1(Index)]; PMID:27338827 [Fam.1:II.1(II-1)]; PMID:150198 [Fam.AD:II.1(117)]
105142 M 210314tree icon - German Hepatomegaly NFKB1 insufficiency PMID:32278790 [Fam.BF:II.1(II.1)]; PMID:29403474 [Fam.(13):II.2(Patient 3)]; PMID:27923702 [Fam.191:II.2(Patient 3)]; PMID:150198 [Fam.AO:II.3(165)]
105143 F 215650 - German Hepatomegaly NFKB1 insufficiency PMID:32278790 [X.I.1]; PMID:29403474 [Patient 7 (13)]; PMID:27923702 [Patient 7]; PMID:150198 [Fam.AP:168]; GRID:001142 [FR005]
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)]
105254 F 215679 - Hepatomegaly Severe combined immunodeficiency 9A, T-B- PMID:25516070 [Pt1]
105256 F 210008tree icon -,- German Hepatomegaly,Hepatopathy PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)]
105273 F 215682 - North American Hepatitis CTLA4 haploinsufficiency with autoimmune infiltration GRID:000111 [Patient(I.1)]
105280 M 215685tree icon - European Hepatomegaly NFKB1 insufficiency PMID:32278790 [Fam.B:I.1(I.1)]; PMID:29477724 [Fam.B:I.1(I:1)]; PMID:150198 [Fam.AV:I.1(242)]
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 -,26 European Hepatic fibrosis,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)]
105315 F 215690 31 European Nodular regenerative hyperplasia of liver NFKB1 insufficiency PMID:32278790 [G.II.1]; PMID:29477724 [Fam.G:II.1(II:1)]; PMID:150198 [Fam.BA:266]; PMID:36105815 [I87S]
105335 U 215697 -,- European Hepatopathy,Nodular regenerative hyperplasia of liver 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]
105361 F 215701tree icon - Pakistani Hepatic steatosis Immunodeficiency 87 PMID:31308374 [Fam.A:III.3(P2)]
105405 M 215756 - Druze Hepatitis Immunodeficiency, common variable, 8 PMID:33013830 [Patient(II.2)]
105406 M 215757 3 Hepatomegaly Immunodeficiency, common variable, 8 PMID:31876783 [Patient 1]
105412 F 215762tree icon -,- Caucasian Hepatomegaly,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)]
105424 M 215766tree icon - Admixed Hepatomegaly Adenosine deaminase 2 deficiency PMID:26867732 [Fam.F:II.1(P8)]; PMID:25457153 [Fam.1:II.2(P1)]; PMID:25075846 [Fam.1:II.2(older-sib)]
105428 M 215766tree icon - Admixed Hepatomegaly Adenosine deaminase 2 deficiency PMID:26867732 [Fam.F:II.2(P9)]; PMID:25457153 [Fam.1:II.3(P2)]; PMID:25075846 [Fam.1:II.3(younger-sib)]
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]
105463 M 215772tree icon - Russian Nodular regenerative hyperplasia of liver NFKB1 insufficiency PMID:32278790 [AO.I.1]; PMID:150198 [Fam.BS:I.1(317)]; PMID:31803180 [Fam.B:I.1(S2)]; PMID:34619682 [P.122]
105481 M 215777tree icon - Haitian/Hispanic Nodular regenerative hyperplasia of liver Activated p110-delta syndrome 1 PMID:24165795 [Fam.A:II.1(A.1)]
105549 F 215801 11 Caucasian Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:29200144 [Fam.A:IV.1(P1)]
105573 U 215812 - Hepatomegaly Activated p110-delta syndrome 1 PMID:24698326 [P4]
105585 F 215818 0 Hepatitis Immunodeficiency, common variable, 8 PMID:33713070 [Case3]
105647 M 215832 - Elevated hepatic transaminases Immunodeficiency, common variable, 8 PMID:34368306 [Patient 3]
105671 M 215837tree icon - Spanish Hepatomegaly NFKB1 insufficiency PMID:32278790 [Fam.AF:II.1(II.1)]; PMID:150198 [Fam.BY:II.1(363)]
105714 M 211370tree icon -,- Turkish Hepatomegaly,Hepatopathy NFKB1 insufficiency PMID:32278790 [Fam.AJ:III.1(III.1)]; PMID:150198 [Fam.BZ:III.1(380)]; GRID:001142 [Fam.*:III.1(FR095)]
105731 F 215843 - Russian Hepatomegaly NFKB1 insufficiency PMID:32278790 [Q.I.1]; PMID:150198 [Fam.CH:424]
105740 U 215845 -,- Hepatomegaly,Hepatopathy NFKB1 insufficiency PMID:32278790 [R.I.1]; PMID:150198 [Fam.CI:425]
105741 F 215846 -,- Indian Hepatomegaly,Hepatopathy NFKB1 insufficiency PMID:32278790 [T.I.1]; PMID:150198 [Fam.CJ:426]
105742 F 215847 -,- Brasilian Hepatomegaly,Hepatopathy NFKB1 insufficiency PMID:32278790 [AD.I.1]; PMID:150198 [Fam.CL:428]
105744 M 215849 - Hepatomegaly NFKB1 insufficiency PMID:32278790 [AG.I.1]; PMID:150198 [Fam.CN:433]
105745 M 215850 - Hepatomegaly NFKB1 insufficiency PMID:32278790 [AI.I.1]; PMID:150198 [Fam.CO:434]
105747 F 215852tree icon -,- Dutch Hepatomegaly,Hepatopathy NFKB1 insufficiency PMID:32278790 [Fam.AM:II.1(II.1)]; PMID:150198 [Fam.CA:II.1(399)]
105750 M 215853 - North American Hepatomegaly NFKB1 insufficiency PMID:32278790 [AP.I.1]; PMID:150198 [Fam.CQ:436]
105752 M 215855 - Russian Hepatomegaly NFKB1 insufficiency PMID:32278790 [AX.I.1]; PMID:150198 [Fam.CS:438]
105755 F 215858 - Russian Hepatomegaly NFKB1 insufficiency PMID:32278790 [BC.I.1]; PMID:150198 [Fam.CV:441]
105756 F 215859 - Portuguese Hepatomegaly NFKB1 insufficiency PMID:32278790 [BD.I.1]; PMID:150198 [Fam.CW:442]
105758 M 215861 - Iranian Hepatomegaly NFKB1 insufficiency PMID:32278790 [BM.I.1]; PMID:150198 [Fam.CY:444]; PMID:36105815 [BM.I.1]
105762 F 215863 - Iranian Hepatomegaly NFKB1 insufficiency PMID:32278790 [BP.I.1]; PMID:150198 [Fam.DA:446]
105773 M 215866 -,- German Elevated hepatic transaminases,Hepatopathy NFKB1 insufficiency PMID:32278790 [BU.I.1]; PMID:150198 [Fam.DF:463]; PMID:36105815 [A245V]
105776 M 215869 - Iranian Hepatomegaly NFKB1 insufficiency PMID:32278790 [BZ.I.1]; PMID:150198 [Fam.DK:468]; PMID:36105815 [Fam.K326N/BZ:K326N/1]
105780 F 215873 -,- German Hepatomegaly,Hepatopathy NFKB1 insufficiency PMID:32278790 [CD.I.1]; PMID:150198 [Fam.DO:475]
105783 F 215876tree icon - Caucasian Hepatic failure NFKB1 insufficiency PMID:150198 [Fam.DR:III.1(483)]; PMID:32972988 [Fam.1:II.1(Index)]
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)]
105850 F 215891tree icon - Hepatitis Autoinflammation, immune dysregulation, and eosinophilia PMID:33864888 [S066(II.6)]
105859 F 215894tree icon 46 British Nodular regenerative hyperplasia of liver Immunodeficiency, common variable, 2 | NFKB1 insufficiency PMID:150198 [Fam.EA:I.2(551)]; PMID:150198 [Fam.EA:I.2(551)]; PMID:34922003 [Fam.A:I.2(A1)]; PMID:34922003 [Fam.A:I.2(A1)]
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))]
105977 F 215918 - Japanese Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.W:II.2(W.II.2 (56))]; PMID:30048690 [Fam.2:II.2(P2.2)]; PMID:35087518 [Fam.15:II.2(15.3)]
105981 M 215919 - Caucasian Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.Y:II.1(Y.II.1 (61))]
105985 F 215920 22 Japanese Hepatic failure CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.BB:II.2(BB.II.2 (72))]; PMID:30048690 [Fam.6:II.2(P6.2)]; PMID:35087518 [Fam.17:II.2(17.3)]
105986 F 215921tree icon - Hepatitis NFKB1 insufficiency PMID:150198 [Fam.FG:II.2(630)]; PMID:36203612 [Fam.1:II.2(1.II.1)]
105999 F 215922tree icon - Hepatomegaly NFKB1 insufficiency PMID:150198 [Fam.FH:III.1(640)]; PMID:36203612 [Fam.2:III.1(2.III.1)]
106047 F 215930 -,- Caucasian Hepatomegaly,Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))]
106057 F 210991 -,- Caucasian Hepatomegaly,Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.NN:II.8(NN.II.6 (90))]
106094 M 215947 -,- Caucasian Hepatomegaly,Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.VV:II.1(VV.II.1 (124))]
106099 M 210955 - Caucasian Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.ZZ:II.1(ZZ.II.1 (129))]
106242 F 215977 - Caucasian Hepatopathy PMID:29729943 [Fam.UU:II.4(UU.II.2 (106))]; PMID:29305966 [Fam.IV.2:II.2(II.1)]
106246 F 215977 - Caucasian Hepatomegaly CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.UU:III.11(UU.III.7 (111))]; PMID:29305966 [Fam.IV.2:III.2(III.2)]
106251 M 215977 -,- Caucasian Hepatomegaly,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)]
106363 F 216001tree icon 0 Argentinian Hepatomegaly Immunodeficiency 117 PMID:36736301 [Fam.A:II.1(P1)]
106448 F 216016tree icon - Japanese Hepatomegaly Autoinflammation, panniculitis, and dermatosis syndrome 2 PMID:38914362 [Fam.R:II.1(130)]; PMID:38652464 [Fam.1:II.1(Patient)]
106459 M 216021tree icon - Nodular regenerative hyperplasia of liver NFKB1 insufficiency PMID:150198 [Fam.FV:II.1(769)]; GRID:001217 [1(II.1)]; PMID:37895204 [proband]
106495 F 216045 2 Hepatomegaly Immunodeficiency, common variable, 8 PMID:33178652 [Patient]
106547 M 216075tree icon - Dutch Hepatomegaly Adenosine deaminase 2 deficiency PMID:26867732 [Fam.C:II.1(P4)]; PMID:25888558 [Fam.1:III.1(P1)]
106555 M 216078tree icon - Caucasian Hepatomegaly Adenosine deaminase 2 deficiency PMID:26867732 [Fam.A:II.1(P1)]; PMID:25075845 [Fam.1:II.2(Young-bro)]
106562 M 216079tree icon - Caucasian Hepatomegaly Adenosine deaminase 2 deficiency PMID:26867732 [Fam.B:IV.1(P3)]
106577 F 216081tree icon - Caucasian Hepatomegaly Adenosine deaminase 2 deficiency PMID:26867732 [Fam.D:II.2(P6)]
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]
106816 F 216162 - Hepatomegaly Immunodeficiency, common variable, 8 PMID:39184709 [Fam.1:II.1(Patient)]
106847 M 216169tree icon - Caucasian Hepatic failure Adenosine deaminase 2 deficiency PMID:29963054 [P1(II.1)]
106857 F 216173tree icon 0 Caucasian Elevated hepatic transaminases Adenosine deaminase 2 deficiency PMID:31008556 [Fam.5:II.2(P6)]
106875 F 216179 - Japanese Hepatomegaly Adenosine deaminase 2 deficiency PMID:33529688 [Fam.4:II.3(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)]
106939 M 216189tree icon 43 Caucasian Nodular regenerative hyperplasia of liver NFKB1 insufficiency PMID:150198 [Fam.FW:II.1(772)]; PMID:38423196 [Fam.1:II.1(P1)]
106956 M 216197 - Hepatomegaly Infantile-Onset Multisystem Autoimmune Disease 1 PMID:30092289 [P12]
106957 F 216198 - Hepatic failure Infantile-Onset Multisystem Autoimmune Disease 1 PMID:30092289 [P13]
106958 M 216199 - Hepatomegaly Infantile-Onset Multisystem Autoimmune Disease 1 PMID:30092289 [P14]
106959 M 216200 - Nodular regenerative hyperplasia of liver Infantile-Onset Multisystem Autoimmune Disease 1 PMID:30092289 [P17]; PMID:35677041 [Pt9]
107045 M 216284 - Hepatopathy Activated p110-delta syndrome 1 PMID:28428270 [P1]
107096 F 216332 -,2 Japanese Hepatic steatosis,Hepatopathy Infantile-Onset Multisystem Autoimmune Disease 1 PMID:33501615 [P3]
107100 M 216334tree icon 2 Japanese Hepatomegaly Infantile-Onset Multisystem Autoimmune Disease 1 PMID:33501615 [Fam.5:II.1(P5.1)]
107107 M 216336 - Hepatopathy Hyper-IgE recurrent infection syndrome 1 PMID:33864888 [S097]
107110 M 216339tree icon 4 Indian Hepatomegaly Autoinflammation with episodic fever and immune dysregulation PMID:38609546 [P1(IV.2)]
107143 M 216360 - Turkish Elevated hepatic transaminases Adenosine deaminase 2 deficiency PMID:26233953 [Fam.F3:P4]
107212 F 216374 4 Arab Hepatomegaly Combined immunodeficiency 37 PMID:31775018 [Patient]
107225 M 216381tree icon 0 Vietnamese Hepatic failure Hemophagocytic lymphohistiocytosis, familial 5 PMID:36503158 [Patient(III.3)]
107246 M 216395 - Caucasian Hepatitis Infantile-Onset Multisystem Autoimmune Disease 1 PMID:30809743 [Pt#1]

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