CHF
MCID: CNG048
MIFTS: 38

Congenital Hepatic Fibrosis (CHF)

Categories: Liver diseases, Rare diseases

Aliases & Classifications for Congenital Hepatic Fibrosis

MalaCards integrated aliases for Congenital Hepatic Fibrosis:

Name: Congenital Hepatic Fibrosis 52 25 29 54
Hepatic Fibrosis, Congenital 71
Congenital Liver Fibrosis 29
Congenital Fibrose Liver 25
Chf 25

Classifications:



External Ids:

UMLS 71 C0009714

Summaries for Congenital Hepatic Fibrosis

Genetics Home Reference : 25 Congenital hepatic fibrosis is a disease of the liver that is present from birth. The liver has many important functions, including producing various substances needed by the body and breaking down other substances into smaller parts to be used or eliminated. Congenital hepatic fibrosis is characterized by malformation of the bile ducts and the blood vessels of the hepatic portal system. Bile ducts carry bile (a fluid that helps to digest fats) from the liver to the gallbladder and small intestine. The hepatic portal system is a branching network of veins (portal veins) that carry blood from the gastrointestinal tract to the liver for processing. A buildup of scar tissue (fibrosis) in the portal tracts also occurs in this disorder. Portal tracts are structures in the liver that bundle the vessels through which blood, lymph, and bile flow. Lymph is a fluid that helps exchange immune cells, proteins, and other substances between the blood and tissues. Fibrosis in the portal tracts can restrict the normal movement of fluids in these vessels. Constriction of the portal veins due to malformation and portal tract fibrosis results in high blood pressure in the hepatic portal system (portal hypertension). Portal hypertension impairs the flow of blood from the gastrointestinal tract, causing an increase in pressure in the veins of the esophagus, stomach, and intestines. These veins may stretch and their walls may become thin, leading to a risk of abnormal bleeding. People with congenital hepatic fibrosis have an enlarged liver and spleen (hepatosplenomegaly). The liver is also abnormally shaped. Affected individuals also have an increased risk of infection of the bile ducts (cholangitis), hard deposits in the gallbladder or bile ducts (gallstones), and cancer of the liver or gallbladder. Congenital hepatic fibrosis may occur alone, in which case it is called isolated congenital hepatic fibrosis. More frequently, it occurs as a feature of genetic syndromes that also affect the kidneys, such as polycystic kidney disease (PKD).

MalaCards based summary : Congenital Hepatic Fibrosis, also known as hepatic fibrosis, congenital, is related to caroli disease and coach syndrome. An important gene associated with Congenital Hepatic Fibrosis is PKHD1 (PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and spleen, and related phenotypes are cardiovascular system and growth/size/body region

NIH Rare Diseases : 52 Congenital hepatic fibrosis is a rare disease of the liver that is present at birth. Symptoms include the following: a large liver, a large spleen, gastrointestinal bleeding caused by varices , increased pressure in the blood vessels that carry blood to the liver (portal hypertension ), and scar tissue in the liver (fibrosis). Isolated congenital hepatic fibrosis is rare; it usually occurs as part of a syndrome that also affects the kidneys. There is no treatment to correct the fibrosis or the specific abnormalities in the blood vessels, but complications such as bleeding and infection can be treated.

Wikipedia : 74 Congenital hepatic fibrosis is an inherited fibrocystic liver disease associated with proliferation of... more...

Related Diseases for Congenital Hepatic Fibrosis

Diseases in the Congenital Hepatic Fibrosis family:

Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection

Diseases related to Congenital Hepatic Fibrosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 271)
# Related Disease Score Top Affiliating Genes
1 caroli disease 32.5 PKHD1 PKD1
2 coach syndrome 32.2 TMEM67 RPGRIP1L CC2D2A AHI1
3 portal hypertension 30.4 PKHD1 AGTR1
4 ciliopathy 30.0 TMEM67 RPGRIP1L
5 autosomal dominant polycystic kidney disease 29.9 PKHD1 PKD1 AGTR1
6 polycystic kidney disease 4 with or without polycystic liver disease 29.8 TMEM67 RPGRIP1L PKHD1 PKD1 CC2D2A ANKS6
7 encephalocele 29.7 TMEM67 CC2D2A
8 renal dysplasia 29.6 PKD1 AGTR1
9 polycystic kidney disease 29.5 TMEM67 PKHD1 PKD1 ANKS6 AGTR1
10 nephronophthisis 1 29.5 PKD1 AHI1
11 polycystic liver disease 29.5 TMEM67 PKHD1 PKD1
12 nephronophthisis 11 29.3 TMEM67 RPGRIP1L CC2D2A
13 kidney disease 29.0 TMEM67 PKHD1 PKD1 AHI1 AGTR1
14 apraxia 28.7 TMEM67 RPGRIP1L AHI1
15 coloboma of macula 28.7 TMEM67 RPGRIP1L CC2D2A AHI1
16 fundus dystrophy 28.5 TMEM67 RPGRIP1L CC2D2A AHI1
17 joubert syndrome 6 28.5 TMEM67 RPGRIP1L CC2D2A AHI1
18 meckel syndrome, type 3 28.4 TMEM67 RPGRIP1L CC2D2A AHI1
19 senior-loken syndrome 1 28.4 TMEM67 RPGRIP1L CC2D2A AHI1
20 joubert syndrome 1 28.1 TMEM67 RPGRIP1L PKHD1 PKD1 CC2D2A AHI1
21 retinitis pigmentosa 27.9 TMEM67 RPGRIP1L PKHD1 PKD1 CC2D2A AHI1
22 nephronophthisis 27.7 TMEM67 RPGRIP1L PKHD1 PKD1 CC2D2A ANKS6
23 meckel syndrome, type 1 27.6 TMEM67 RPGRIP1L PKHD1 PKD1 CC2D2A AHI1
24 bardet-biedl syndrome 27.6 TMEM67 RPGRIP1L PKHD1 PKD1 CC2D2A AHI1
25 cystic kidney disease 27.2 TMEM67 RPGRIP1L PKHD1 PKD1 CC2D2A ANKS6
26 isolated congenital hepatic fibrosis 12.5
27 congestive heart failure 12.1
28 meckel syndrome, type 7 11.6
29 crimean-congo hemorrhagic fever 11.2
30 fibrosis of extraocular muscles, congenital, 1 10.9
31 heart disease 10.8
32 cholangitis 10.6
33 varicose veins 10.6
34 dilated cardiomyopathy 10.5
35 splenomegaly 10.4
36 atrial fibrillation 10.4
37 esophageal varix 10.4
38 autosomal recessive disease 10.3
39 medullary sponge kidney 10.3
40 mitral valve insufficiency 10.3
41 systolic heart failure 10.3
42 depression 10.3
43 major depressive disorder 10.2
44 mental depression 10.2
45 diastolic heart failure 10.2
46 cardiac conduction defect 10.2
47 pulmonary disease, chronic obstructive 10.2
48 resting heart rate, variation in 10.2
49 pulmonary edema 10.2
50 iron metabolism disease 10.2

Graphical network of the top 20 diseases related to Congenital Hepatic Fibrosis:



Diseases related to Congenital Hepatic Fibrosis

Symptoms & Phenotypes for Congenital Hepatic Fibrosis

MGI Mouse Phenotypes related to Congenital Hepatic Fibrosis:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.04 AGTR1 ANKS6 CC2D2A PKD1 PKHD1 RPGRIP1L
2 growth/size/body region MP:0005378 10.01 AGTR1 AHI1 ANKS6 CC2D2A PKD1 PKHD1
3 cellular MP:0005384 9.95 AHI1 CC2D2A PKD1 PKHD1 RPGRIP1L TMEM67
4 mortality/aging MP:0010768 9.86 AGTR1 AHI1 ANKS6 CC2D2A PKD1 PKHD1
5 digestive/alimentary MP:0005381 9.85 CC2D2A PKD1 PKHD1 RPGRIP1L TMEM67
6 embryo MP:0005380 9.83 ANKS6 CC2D2A PKD1 RPGRIP1L TMEM67
7 liver/biliary system MP:0005370 9.72 ANKS6 PKD1 PKHD1 RPGRIP1L TMEM67
8 nervous system MP:0003631 9.7 AGTR1 AHI1 CC2D2A PKD1 PKHD1 RPGRIP1L
9 limbs/digits/tail MP:0005371 9.67 CC2D2A PKD1 RPGRIP1L TMEM67
10 renal/urinary system MP:0005367 9.5 AGTR1 AHI1 CC2D2A PKD1 PKHD1 RPGRIP1L
11 respiratory system MP:0005388 9.02 ANKS6 CC2D2A PKD1 PKHD1 RPGRIP1L

Drugs & Therapeutics for Congenital Hepatic Fibrosis

Drugs for Congenital Hepatic Fibrosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II, Double-blinded, Randomized, Controlled Study to Evaluate the Efficacy and Safety of Vitalliver in Patients With Decompensated Cirrhosis Completed NCT00562783 Phase 2 Vitaliver;Placebo
2 Diagnosis of Ascites in Infants and Children Unknown status NCT03341221
3 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
4 Natural History of Noncirrhotic Portal Hypertension Recruiting NCT02417740
5 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) Recruiting NCT01401998

Search NIH Clinical Center for Congenital Hepatic Fibrosis

Genetic Tests for Congenital Hepatic Fibrosis

Genetic tests related to Congenital Hepatic Fibrosis:

# Genetic test Affiliating Genes
1 Congenital Hepatic Fibrosis 29
2 Congenital Liver Fibrosis 29

Anatomical Context for Congenital Hepatic Fibrosis

MalaCards organs/tissues related to Congenital Hepatic Fibrosis:

40
Liver, Kidney, Spleen, Small Intestine, Pancreas, Heart, Thyroid

Publications for Congenital Hepatic Fibrosis

Articles related to Congenital Hepatic Fibrosis:

(show top 50) (show all 619)
# Title Authors PMID Year
1
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 54 61
19914852 2010
2
Immunohistochemical detection of polyductin and co-localization with liver progenitor cell markers during normal and abnormal development of the intrahepatic biliary system and in adult hepatobiliary carcinomas. 61 54
19292732 2009
3
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). 54 61
16523049 2006
4
[Cystic liver diseases. Genetics and cell biology]. 54 61
16294159 2005
5
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. 61 54
12846734 2003
6
Congenital Cystic Lesions of the Bile Ducts: Imaging-Based Diagnosis. 61
31027922 2020
7
Evaluation of Thyroid Function Tests in Children with Chronic Liver Diseases 61
31486329 2020
8
Living donor liver transplantation for congenital hepatic fibrosis in children. 61
32118333 2020
9
Use of pediatric donor en bloc kidneys along with bladder segment in pediatric liver-kidney and multivisceral-kidney transplantation. 61
31605438 2020
10
Explant liver evaluation decodes the mystery of cryptogenic cirrhosis! 61
32055695 2020
11
Revisiting Caroli Syndrome in a Tanzanian Patient. 61
32089970 2020
12
The Emerging Role of Macrophages in Chronic Cholangiopathies Featuring Biliary Fibrosis: An Attractive Therapeutic Target for Orphan Diseases. 61
32373615 2020
13
Congenital Hepatic Fibrosis in Children and Adults: Clinical Manifestations, Management, and Outcome-Case Series and Literature Review. 61
32382272 2020
14
Pediatric Cholestatic Liver Disease: Review of Bile Acid Metabolism and Discussion of Current and Emerging Therapies. 61
32432119 2020
15
Diagnosis of Congenital Hepatic Fibrosis in Adulthood. 61
31584623 2020
16
Technique and outcome of domino liver transplantation from patients with maple syrup urine disease: Expanding the donor pool for live donor liver transplantation. 61
31556146 2019
17
Endoscopic therapy for gastro-oesophageal varices of Caroli's syndrome: a case report. 61
31594447 2019
18
An Unusual Case of Congenital Hepatic Fibrosis with Retinitis Pigmentosa. 61
31728235 2019
19
Congenital hepatic fibrosis and coexistent retinal macular degeneration: A case report. 61
31464924 2019
20
Pathobiology of inherited biliary diseases: a roadmap to understand acquired liver diseases. 61
31165788 2019
21
The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity. 61
31763177 2019
22
Current status of hepatopulmonary syndrome in liver transplantation in Japan: a Japanese multicenter analysis. 61
31069999 2019
23
Loss of fibrocystin promotes interleukin-8-dependent proliferation and CTGF production of biliary epithelium. 61
30898581 2019
24
Ultrasound Elastography to Quantify Liver Disease Severity in Autosomal Recessive Polycystic Kidney Disease. 61
30902421 2019
25
Magnetic resonance imaging of fibropolycystic liver disease: the spectrum of ductal plate malformations. 61
30852632 2019
26
The successful treatment of hepatocellular carcinoma arising from congenital hepatic fibrosis using radiofrequency ablation under laparoscopy. 61
30617852 2019
27
[Congenital hepatic fibrosis associated with Caroli's disease: a case report]. 61
31357765 2019
28
Congenital hepatic fibrosis with polycystic kidney disease: Two case reports. 61
31096464 2019
29
Goldston syndrome with congenital hepatic fibrosis: A rare cause of neonatal cholestasis. 61
31218169 2019
30
Pressure gradients, laboratory changes, and outcomes with transjugular intrahepatic portosystemic shunts in pediatric portal hypertension. 61
30932316 2019
31
Remodeling of Intrahepatic Ducts in a Model of Caroli Syndrome: Is Scar Carcinoma a Consequence of Laplace's Law? 61
30939854 2019
32
A teenage patient with autosomal recessive polycystic kidney disease, a splenorenal shunt, and congenital hepatic fibrosis: a case report. 61
30199558 2019
33
Short article: Sequence variations of PKHD1 underlie congenital hepatic fibrosis in a Chinese family. 61
30507656 2019
34
Evaluation of Underlying Liver Disease and Its Severity in Children Referred for Liver Transplant: a Single-Center Report From Nemazee Hospital of Shiraz. 61
30836904 2019
35
Heterozygous Pkhd1C642* mice develop cystic liver disease and proximal tubule ectasia that mimics radiographic signs of medullary sponge kidney. 61
30600684 2019
36
Portal Hypertensive Biliopathy as a Cause of Severe Cholestasis in Children With Congenital Hepatic Fibrosis. 61
30777560 2019
37
Fibroinflammatory Liver Injuries as Preneoplastic Condition in Cholangiopathies. 61
30518128 2018
38
Molecular Genetic Analysis of PKHD1 Mutations in Pedigrees With Autosomal Recessive Polycystic Kidney Disease. 61
30595564 2018
39
CONGENITAL HEPATIC FIBROSIS AND OBLITERATIVE PORTAL VENOPATHY WITHOUT PORTAL HYPERTENSION - A REVIEW OF LITERATURE BASED ON AN ASYMPTOMATIC CASE. 61
30785513 2018
40
A small molecule fibrokinase inhibitor in a model of fibropolycystic hepatorenal disease. 61
30211028 2018
41
Polycystic kidney and hepatic disease 1 gene mutations in von Meyenburg complexes: Case report. 61
30211211 2018
42
Hepatic morphology abnormalities: beyond cirrhosis. 61
29043403 2018
43
Long-term outcome of transjugular intrahepatic portosystemic shunt for portal hypertension in autosomal recessive polycystic kidney disease. 61
29622386 2018
44
β-Catenin and interleukin-1β-dependent chemokine (C-X-C motif) ligand 10 production drives progression of disease in a mouse model of congenital hepatic fibrosis. 61
29140564 2018
45
Congenital Hepatic Fibrosis in a Purebred Spanish Horse Foal: Pathology and Genetic Studies on PKHD1 Gene Mutations. 61
29402207 2018
46
Spontaneous Extrahepatic Portosystemic Shunt in Congenital Hepatic Fibrosis. 61
26854654 2018
47
Multiple midline defects identified in a litter of golden retrievers following gestational administration of prednisone and doxycycline: a case series. 61
29530019 2018
48
Gastrostomy Tube Insertion in Pediatric Patients With Autosomal Recessive Polycystic Kidney Disease (ARPKD): Current Practice. 61
29915780 2018
49
Transient Elastography for Detection of Liver Fibrosis in Children With Autosomal Recessive Polycystic Kidney Disease. 61
30687687 2018
50
Increased YAP Activation Is Associated With Hepatic Cyst Epithelial Cell Proliferation in ARPKD/CHF. 61
28915934 2017

Variations for Congenital Hepatic Fibrosis

Expression for Congenital Hepatic Fibrosis

Search GEO for disease gene expression data for Congenital Hepatic Fibrosis.

Pathways for Congenital Hepatic Fibrosis

GO Terms for Congenital Hepatic Fibrosis

Cellular components related to Congenital Hepatic Fibrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.8 TMEM67 RPGRIP1L PKHD1 CC2D2A AHI1
2 centrosome GO:0005813 9.67 TMEM67 RPGRIP1L PKHD1 AHI1
3 ciliary basal body GO:0036064 9.5 RPGRIP1L PKHD1 AHI1
4 cell projection GO:0042995 9.5 TMEM67 RPGRIP1L PKHD1 PKD1 CC2D2A ANKS6
5 ciliary membrane GO:0060170 9.43 TMEM67 PKD1
6 ciliary transition zone GO:0035869 9.43 TMEM67 RPGRIP1L CC2D2A
7 MKS complex GO:0036038 9.33 TMEM67 CC2D2A AHI1
8 cilium GO:0005929 9.17 TMEM67 RPGRIP1L PKHD1 PKD1 CC2D2A ANKS6

Biological processes related to Congenital Hepatic Fibrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.46 RPGRIP1L PKHD1 PKD1 AGTR1
2 liver development GO:0001889 9.43 RPGRIP1L PKD1
3 cell projection organization GO:0030030 9.43 TMEM67 CC2D2A AHI1
4 determination of left/right symmetry GO:0007368 9.4 RPGRIP1L CC2D2A
5 camera-type eye development GO:0043010 9.37 RPGRIP1L CC2D2A
6 non-motile cilium assembly GO:1905515 9.32 RPGRIP1L CC2D2A
7 ciliary basal body-plasma membrane docking GO:0097711 9.26 TMEM67 RPGRIP1L CC2D2A AHI1
8 cilium assembly GO:0060271 9.02 TMEM67 RPGRIP1L PKHD1 CC2D2A AHI1

Sources for Congenital Hepatic Fibrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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