CHF
MCID: CNG048
MIFTS: 37

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 24 52 25 29 54
Hepatic Fibrosis, Congenital 71
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 coach syndrome and caroli disease. 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 heart, 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...

GeneReviews: NBK2701

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 275)
# Related Disease Score Top Affiliating Genes
1 coach syndrome 33.1 TMEM67 RPGRIP1L CC2D2A
2 caroli disease 32.5 PKHD1 PKD1
3 portal hypertension 30.6 PKHD1 AGTR1
4 kidney disease 30.0 TMEM67 PKHD1 PKD1 AGTR1
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 ciliopathy 29.7 TMEM67 RPGRIP1L
8 renal dysplasia 29.7 PKD1 AGTR1
9 encephalocele 29.7 TMEM67 CC2D2A
10 nephronophthisis 1 29.5 PKD1 AHI1
11 polycystic kidney disease 29.5 TMEM67 PKHD1 PKD1 ANKS6 AGTR1
12 polycystic liver disease 29.5 TMEM67 PKHD1 PKD1
13 end stage renal failure 29.3 PKD1 ANKS6 AGTR1
14 nephronophthisis 11 29.3 TMEM67 RPGRIP1L CC2D2A
15 pathologic nystagmus 28.9 TMEM67 AHI1
16 coloboma of macula 28.7 TMEM67 RPGRIP1L CC2D2A AHI1
17 fundus dystrophy 28.5 TMEM67 RPGRIP1L CC2D2A AHI1
18 joubert syndrome 6 28.5 TMEM67 RPGRIP1L CC2D2A AHI1
19 meckel syndrome, type 3 28.4 TMEM67 RPGRIP1L CC2D2A AHI1
20 apraxia 28.4 TMEM67 RPGRIP1L CC2D2A AHI1
21 senior-loken syndrome 1 28.4 TMEM67 RPGRIP1L CC2D2A AHI1
22 leber congenital amaurosis 28.3 TMEM67 RPGRIP1L CC2D2A AHI1
23 retinitis pigmentosa 27.9 TMEM67 RPGRIP1L PKHD1 PKD1 CC2D2A AHI1
24 nephronophthisis 27.6 TMEM67 RPGRIP1L PKHD1 PKD1 CC2D2A ANKS6
25 meckel syndrome, type 1 27.6 TMEM67 RPGRIP1L PKHD1 PKD1 CC2D2A AHI1
26 bardet-biedl syndrome 27.6 TMEM67 RPGRIP1L PKHD1 PKD1 CC2D2A AHI1
27 joubert syndrome 1 27.5 TMEM67 RPGRIP1L PKHD1 PKD1 CC2D2A ANKS6
28 cystic kidney disease 27.2 TMEM67 RPGRIP1L PKHD1 PKD1 CC2D2A ANKS6
29 isolated congenital hepatic fibrosis 12.5
30 congestive heart failure 12.1
31 meckel syndrome, type 7 11.6
32 crimean-congo hemorrhagic fever 11.2
33 fibrosis of extraocular muscles, congenital, 1 10.9
34 heart disease 10.7
35 cholangitis 10.6
36 varicose veins 10.6
37 dilated cardiomyopathy 10.5
38 atrial fibrillation 10.4
39 splenomegaly 10.4
40 esophageal varix 10.4
41 autosomal recessive disease 10.3
42 medullary sponge kidney 10.3
43 mitral valve insufficiency 10.3
44 systolic heart failure 10.3
45 depression 10.3
46 major depressive disorder 10.2
47 mental depression 10.2
48 diastolic heart failure 10.2
49 caroli disease, isolated 10.2
50 cholangiocarcinoma 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 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.05 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 9.97 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 craniofacial MP:0005382 9.78 CC2D2A PKD1 RPGRIP1L TMEM67
8 liver/biliary system MP:0005370 9.72 ANKS6 PKD1 PKHD1 RPGRIP1L TMEM67
9 nervous system MP:0003631 9.7 AGTR1 AHI1 CC2D2A PKD1 PKHD1 RPGRIP1L
10 limbs/digits/tail MP:0005371 9.67 CC2D2A PKD1 RPGRIP1L TMEM67
11 renal/urinary system MP:0005367 9.5 AGTR1 AHI1 CC2D2A PKD1 PKHD1 RPGRIP1L
12 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

Anatomical Context for Congenital Hepatic Fibrosis

MalaCards organs/tissues related to Congenital Hepatic Fibrosis:

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

Publications for Congenital Hepatic Fibrosis

Articles related to Congenital Hepatic Fibrosis:

(show top 50) (show all 646)
# 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 24
19914852 2010
2
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). 54 61 24
16523049 2006
3
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. 61 24
23041322 2013
4
Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease. 61 24
22197937 2012
5
Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease. 61 24
21694639 2012
6
Liver and kidney disease in ciliopathies. 61 24
19876928 2009
7
Imaging findings in congenital hepatic fibrosis. 61 24
17164079 2007
8
Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family. 61 24
17022080 2006
9
Fibropolycystic liver disease: CT and MR imaging findings. 61 24
15888616 2005
10
Survival of childhood polycystic kidney disease following renal transplantation: the impact of advanced hepatobiliary disease. 61 24
14738296 2003
11
Autosomal recessive polycystic kidney disease in adulthood. 61 24
11477168 2001
12
Pathology teach and tell: congenital hepatic fibrosis and autosomal dominant polycystic kidney disease. 61 24
11486356 2001
13
MR cholangiography in children with autosomal recessive polycystic kidney disease. 61 24
10369907 1999
14
Ludwig symposium on biliary disorders--part I. Pathogenesis of ductal plate abnormalities. 61 24
9443684 1998
15
Association of congenital hepatic fibrosis with autosomal dominant polycystic kidney disease. Report of a family with review of literature. 61 24
8516038 1993
16
Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease. 61 24
2266672 1990
17
Polycystic kidney of autosomal dominant inheritance, polycystic liver and congenital hepatic fibrosis in a single kindred. 61 24
2382684 1990
18
Hepatobiliary fibropolycystic diseases. A clinical and histological review of 51 patients. 61 24
3958471 1986
19
Congenital hepatic fibrosis and adult-type autosomal dominant polycystic kidney disease in a child. 61 24
4022899 1985
20
Congenital hepatic fibrosis and asymptomatic familial adult-type polycystic kidney disease in a 19-year-old woman. 61 24
6698375 1984
21
Congenital hepatic fibrosis: the long-term prognosis. 61 24
680586 1978
22
Portal hypertension in children: expert pediatric opinion on the report of the Baveno v Consensus Workshop on Methodology of Diagnosis and Therapy in Portal Hypertension. 24
22409296 2012
23
Primary prophylaxis of variceal hemorrhage in children with portal hypertension: a framework for future research. 24
21336158 2011
24
Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I). 24
20818665 2010
25
Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. 24
20413436 2010
26
Nephronophthisis. 24
18607645 2009
27
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. 54 61
19292732 2009
28
New insights into autoimmune liver diseases. 24
18462376 2008
29
Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. 24
18513680 2008
30
An update on primary sclerosing cholangitis. 24
18408468 2008
31
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. 24
18371931 2008
32
NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis. 24
18199800 2008
33
Long-term outcome of liver resection and transplantation for Caroli disease and syndrome. 24
18216545 2008
34
The management of portal hypertension: rational basis, available treatments and future options. 24
18304681 2008
35
When cilia go bad: cilia defects and ciliopathies. 24
17955020 2007
36
A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome. 24
17935508 2007
37
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. 24
17617513 2007
38
Prevention and management of gastroesophageal varices and variceal hemorrhage in cirrhosis. 24
17727436 2007
39
The retinal ciliopathies. 24
17896309 2007
40
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. 24
17564974 2007
41
Nephronophthisis-associated ciliopathies. 24
17513324 2007
42
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 24
17397051 2007
43
Noncirrhotic portal hypertension. 24
17162232 2006
44
The ciliopathies: an emerging class of human genetic disorders. 24
16722803 2006
45
Liver disease in autosomal recessive polycystic kidney disease. 24
16176423 2005
46
Hepato-portopulmonary disorders--not just in adults! 24
16205504 2005
47
[Cystic liver diseases. Genetics and cell biology]. 54 61
16294159 2005
48
Polycystic liver disease is a disorder of cotranslational protein processing. 24
15649821 2005
49
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. 54 61
12846734 2003
50
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 24
12506140 2003

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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