MCID: CNG048
MIFTS: 41

Congenital Hepatic Fibrosis

Categories: Rare diseases, Liver diseases

Aliases & Classifications for Congenital Hepatic Fibrosis

MalaCards integrated aliases for Congenital Hepatic Fibrosis:

Name: Congenital Hepatic Fibrosis 23 49 24 28 51
Hepatic Fibrosis, Congenital 69
Congenital Fibrose Liver 24
Chf 24

Classifications:



External Ids:

UMLS 69 C0009714

Summaries for Congenital Hepatic Fibrosis

NIH Rare Diseases : 49 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. Last updated: 10/30/2015

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, Fibrocystin/Polyductin), and among its related pathways/superpathways are Organelle biogenesis and maintenance and ACE Inhibitor Pathway, Pharmacodynamics. 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

Genetics Home Reference : 24 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.

Wikipedia : 72 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 104)
# Related Disease Score Top Affiliating Genes
1 coach syndrome 32.4 CC2D2A RPGRIP1L TMEM67
2 caroli disease 31.8 PKD1 PKHD1
3 polycystic kidney disease 4 with or without hepatic disease 31.4 PKD1 PKHD1 TMEM67
4 polycystic kidney disease 5 30.6 PKD1 PKHD1
5 portal hypertension 30.4 AGTR1 PKHD1
6 polycystic kidney disease 30.1 PKD1 PKHD1
7 autosomal dominant polycystic kidney disease 30.0 PKD1 PKHD1 REN
8 kidney disease 29.9 AGTR1 PKD1 PKHD1 REN
9 renal dysplasia 29.9 AGTR1 REN
10 joubert syndrome 1 29.2 CC2D2A RPGRIP1L TMEM67
11 encephalocele 28.9 CC2D2A RPGRIP1L TMEM67
12 nephronophthisis 28.5 CC2D2A PKD1 PKHD1 RPGRIP1L TMEM67
13 isolated congenital hepatic fibrosis 12.2
14 congestive heart failure 11.8
15 hepatitis 10.8
16 fibrosis of extraocular muscles, congenital, 1 10.8
17 renal artery disease 10.2 AGTR1 REN
18 anuria 10.2 AGTR1 REN
19 malignant hypertension 10.2 AGTR1 REN
20 fibromuscular dysplasia 10.2 AGTR1 REN
21 renal hypertension 10.2 AGTR1 REN
22 renovascular hypertension 10.2 AGTR1 REN
23 renal tubular dysgenesis 10.2 AGTR1 REN
24 polycystic liver disease 1 10.2 PKD1 PKHD1
25 familial hypertension 10.2 AGTR1 REN
26 polycystic liver disease 10.2 PKD1 PKHD1
27 vesicoureteral reflux 1 10.1 AGTR1 REN
28 polycystic kidney disease 2 10.1 PKD1 PKHD1
29 polycystic kidney disease 1 10.1 PKD1 PKHD1
30 idiopathic hypercalciuria 10.1 REN SLC17A5
31 cholangitis 10.0
32 autosomal genetic disease 10.0 PKD1 PKHD1
33 obstructive jaundice 10.0 REN SLC17A5
34 oligohydramnios 10.0 AGTR1 PKHD1 REN
35 renal fibrosis 10.0 AGTR1 REN
36 cystic kidney disease 10.0 CC2D2A PKD1 PKHD1
37 end stage renal failure 10.0 AGTR1 PKD1
38 iga glomerulonephritis 9.9 AGTR1 REN
39 bardet-biedl syndrome 11 9.9 CC2D2A TMEM67
40 protein-losing enteropathy 9.9
41 hepatopulmonary syndrome 9.9
42 medullary sponge kidney 9.9
43 arteries, anomalies of 9.9 AGTR1 REN
44 senior-loken syndrome 1 9.9 CC2D2A TMEM67
45 chronic kidney failure 9.8 AGTR1 PKD1 REN
46 hypertension, essential 9.8 AGTR1 PKD1 REN
47 hepatocellular carcinoma 9.8
48 cholangiocarcinoma 9.8
49 pulmonary hypertension 9.8
50 liver disease 9.8

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.98 PKHD1 REN AGTR1 RPGRIP1L CC2D2A PKD1
2 growth/size/body region MP:0005378 9.92 PKHD1 REN AGTR1 RPGRIP1L CC2D2A SLC17A5
3 digestive/alimentary MP:0005381 9.77 PKHD1 RPGRIP1L CC2D2A PKD1 TMEM67
4 mortality/aging MP:0010768 9.76 PKHD1 REN AGTR1 RPGRIP1L CC2D2A SLC17A5
5 craniofacial MP:0005382 9.71 TMEM67 RPGRIP1L CC2D2A PKD1
6 limbs/digits/tail MP:0005371 9.56 RPGRIP1L CC2D2A PKD1 TMEM67
7 nervous system MP:0003631 9.56 PKHD1 REN AGTR1 RPGRIP1L CC2D2A SLC17A5
8 renal/urinary system MP:0005367 9.17 REN AGTR1 RPGRIP1L CC2D2A PKD1 TMEM67

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 Phase 2

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 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
3 Natural History of Noncirrhotic Portal Hypertension Recruiting NCT02417740
4 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224

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 28

Anatomical Context for Congenital Hepatic Fibrosis

MalaCards organs/tissues related to Congenital Hepatic Fibrosis:

38
Liver, Kidney, Spleen, Heart

Publications for Congenital Hepatic Fibrosis

Articles related to Congenital Hepatic Fibrosis:

(show top 50) (show all 223)
# Title Authors Year
1
Congenital Hepatic Fibrosis in a Purebred Spanish Horse Foal: Pathology and Genetic Studies on PKHD1 Gene Mutations. ( 29402207 )
2018
2
I^-catenin and IL-1I^ dependent CXCL10 production drives progression of disease in a mouse model of Congenital Hepatic Fibrosis. ( 29140564 )
2017
3
Laparoscopic distal splenoadrenal shunt for the treatment of portal hypertension in children with congenital hepatic fibrosis: A case report. ( 28099341 )
2017
4
Congenital hepatic fibrosis in a 9-year-old female patient - a case report. ( 29062909 )
2017
5
Hassab's operation for Joubert syndrome with congenital hepatic fibrosis: A case report. ( 28402911 )
2017
6
Congenital Hepatic Fibrosis with Polycystic Kidney Disease: An Unusual Cause of Neonatal Cholestasis. ( 28737145 )
2017
7
Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype-phenotype relationship. ( 28680603 )
2017
8
Spontaneous Extra-hepatic Portosystemic Shunt in Congenital Hepatic Fibrosis. ( 26854654 )
2016
9
Congenital hepatic fibrosis: clinical presentation, laboratory features and management at a tertiary care hospital of Lahore. ( 27524533 )
2016
10
Macrophage recruitment by fibrocystin-defective biliary epithelial cells promotes portal fibrosis in congenital hepatic fibrosis. ( 26645994 )
2016
11
Pediatric living donor liver transplantation for congenital hepatic fibrosis using a mother's graft with von Meyenburg complex: A case report. ( 27956812 )
2016
12
Evidence for a "Pathogenic Triumvirate" in Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney Disease. ( 27891514 )
2016
13
Obscure gastrointestinal bleeding in a patient with congenital hepatic fibrosis and Crohn's disease. ( 26334465 )
2015
14
Congenital hepatic fibrosis and polycystic kidney disease not linked to C >A mutation in exon 29 of PKD1 in a Persian cat. ( 28491400 )
2015
15
A Family of Congenital Hepatic Fibrosis and Atypical Retinitis Pigmentosa. ( 26918098 )
2015
16
Novel variant syndrome associated with congenital hepatic fibrosis. ( 26488028 )
2015
17
Dealing with congenital hepatic fibrosis? Remember COACH syndrome. ( 26183508 )
2014
18
Congenital Hepatic Fibrosis in the Franches-Montagnes Horse Is Associated with the Polycystic Kidney and Hepatic Disease 1 (PKHD1) Gene. ( 25295861 )
2014
19
Multiple comet tail artifacts in the liver: a case of congenital hepatic fibrosis showing unusual biliary appearance. ( 27277914 )
2014
20
Congenital hepatic fibrosis with extra-hepatic porto-systemic shunt and hepatopulmonary syndrome successfully managed with living related liver transplantation. ( 25508503 )
2014
21
Congenital hepatic fibrosis in a child with Prader-Willi syndrome: a novel association. ( 24658561 )
2014
22
Congenital hepatic fibrosis with extra-hepatic porto-systemic shunt and hepatopulmonary syndrome successfully managed with living related liver transplantation. ( 25470876 )
2014
23
Congenital hepatic fibrosis with multiple HNF1I+ hepatocellular adenomas. ( 24981780 )
2014
24
Recurrent Cholangitis with Congenital Hepatic Fibrosis and Pancreaticobiliary Maljunction after Roux-en-Y Reconstruction. ( 25755951 )
2013
25
Protein kinase a-dependent pSer(675) -I^-catenin, a novel signaling defect in a mouse model of congenital hepatic fibrosis. ( 23744610 )
2013
26
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. ( 23041322 )
2013
27
Unexplained cyanosis revealing hepatopulmonary syndrome in a child with asymptomatic congenital hepatic fibrosis: a case report. ( 23628315 )
2013
28
Phenotypic variation and long-term outcome in children with congenital hepatic fibrosis. ( 23518487 )
2013
29
Laparoscopic findings of congenital hepatic fibrosis: A case report and review of the published work. ( 23730817 )
2013
30
Familial congenital hepatic fibrosis: report of a family with three affected children. ( 24338199 )
2013
31
Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease. ( 22197937 )
2012
32
Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease. ( 21694639 )
2012
33
Sequential liver-kidney transplantation in a boy with congenital hepatic fibrosis and nephronophthisis from a living donor. ( 22129440 )
2012
34
Congenital hepatic fibrosis in autosomal recessive polycystic kidney disease. ( 22212229 )
2011
35
Congenital hepatic fibrosis leading to cirrhosis and hepatocellular carcinoma: a case report. ( 21513523 )
2011
36
Experience of a single center with congenital hepatic fibrosis: a review of the literature. ( 20135715 )
2010
37
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. ( 19914852 )
2010
38
Thrombocytopenia and splenomegaly: an unusual presentation of congenital hepatic fibrosis. ( 20384987 )
2010
39
Congenital hepatic fibrosis in 5 dogs. ( 20080489 )
2010
40
Renin-angiotensin system activation in congenital hepatic fibrosis in the PCK rat model of autosomal recessive polycystic kidney disease. ( 20400910 )
2010
41
Recent progress in the etiopathogenesis of pediatric biliary disease, particularly Caroli's disease with congenital hepatic fibrosis and biliary atresia. ( 20017109 )
2010
42
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). ( 19574260 )
2010
43
Congenital hepatic fibrosis without any symptoms as diagnosed by laparoscopy. ( 21175498 )
2010
44
Matrix proteins of basement membrane of intrahepatic bile ducts are degraded in congenital hepatic fibrosis and Caroli's disease. ( 19025978 )
2009
45
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). ( 19089418 )
2009
46
Congenital hepatic fibrosis in a child with autosomal dominant polycystic kidney disease. ( 19248702 )
2008
47
Rapid evolution of congenital hepatic fibrosis after liver transplantation for acute liver failure: the potential role of extrahepatic factors. ( 18433070 )
2008
48
Imaging findings in congenital hepatic fibrosis. ( 17164079 )
2007
49
Papillon-lefevre syndrome with congenital hepatic fibrosis. ( 17917635 )
2007
50
Is portal vein cavernous transformation a component of congenital hepatic fibrosis? ( 17461491 )
2007

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

Pathways related to Congenital Hepatic Fibrosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.65 CC2D2A PKD1 RPGRIP1L TMEM67
2
Show member pathways
11.06 AGTR1 REN
3 10.77 AGTR1 REN

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 plasma membrane GO:0005886 9.87 AGTR1 PKD1 PKHD1 REN RPGRIP1L SLC17A5
2 cell projection GO:0042995 9.55 CC2D2A PKD1 PKHD1 RPGRIP1L TMEM67
3 ciliary membrane GO:0060170 9.37 PKD1 TMEM67
4 MKS complex GO:0036038 9.26 CC2D2A TMEM67
5 ciliary transition zone GO:0035869 9.13 CC2D2A RPGRIP1L TMEM67
6 cilium GO:0005929 9.02 CC2D2A PKD1 PKHD1 RPGRIP1L TMEM67

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

# Name GO ID Score Top Affiliating Genes
1 liver development GO:0001889 9.43 PKD1 RPGRIP1L
2 ciliary basal body-plasma membrane docking GO:0097711 9.43 CC2D2A RPGRIP1L TMEM67
3 determination of left/right symmetry GO:0007368 9.4 CC2D2A RPGRIP1L
4 camera-type eye development GO:0043010 9.37 CC2D2A RPGRIP1L
5 non-motile cilium assembly GO:1905515 9.32 CC2D2A RPGRIP1L
6 cilium assembly GO:0060271 9.26 CC2D2A PKHD1 RPGRIP1L TMEM67
7 renin-angiotensin regulation of aldosterone production GO:0002018 9.16 AGTR1 REN
8 kidney development GO:0001822 9.02 AGTR1 PKD1 PKHD1 REN RPGRIP1L

Sources for Congenital Hepatic Fibrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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