Hepatic fibrosis

Basic details

Preferred term: Hepatic fibrosis
Alt. terms: liver fibrosis | fibrosis of the liver

HPO term: Hepatic fibrosis
HPO code: HP:0001395

GenIA ID: 421
Last updated on: 2021-12-10 17:55:48

Cross ref. with other ontologies

NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: K74

Description

The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.

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]
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]
101199 F 211483 - German Hepatopathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.YY:II.1(127)]; PMID:34975878 [Fam.F122:P122]
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]
102729 M 214981tree icon - Canadian Hepatic fibrosis 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 fibrosis 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)]
104237 M 215421tree icon 2,- European/American Hepatic fibrosis,Periportal fibrosis Systemic early-onset autoinflammation, vasculitis and hepatopathy PMID:36122175 [ref.8]; PMID:36932076 [P1(II.3)]; GRID:000818 [Patient]; GRID:000819 [pt.1]
104398 M 215522tree icon - Czech Hepatic fibrosis Systemic early-onset autoinflammation, vasculitis and hepatopathy PMID:36932076 [P3(II.1)]
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]
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)]
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)]
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]
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]
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 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]
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)]
106669 M 216103 - Hepatopathy NFKB1 insufficiency PMID:150198 [Fam.EE:565]; PMID:35281075 [5]
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]

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