MCID: CNG048
MIFTS: 40

Congenital Hepatic Fibrosis

Categories: Liver diseases, Rare diseases

Aliases & Classifications for Congenital Hepatic Fibrosis

MalaCards integrated aliases for Congenital Hepatic Fibrosis:

Name: Congenital Hepatic Fibrosis 25 54 26 30 56
Hepatic Fibrosis, Congenital 74
Congenital Fibrose Liver 26
Chf 26

Classifications:



External Ids:

UMLS 74 C0009714

Summaries for Congenital Hepatic Fibrosis

NIH Rare Diseases : 54 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.

MalaCards based summary : Congenital Hepatic Fibrosis, also known as hepatic fibrosis, congenital, is related to coach syndrome and polycystic kidney disease 4 with or without polycystic liver 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 Organelle biogenesis and maintenance and Renin secretion. 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

Genetics Home Reference : 26 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 : 77 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 132)
# Related Disease Score Top Affiliating Genes
1 coach syndrome 32.8 CC2D2A RPGRIP1L TMEM67
2 polycystic kidney disease 4 with or without polycystic liver disease 32.1 PKD1 PKHD1 TMEM67
3 caroli disease 32.0 PKD1 PKHD1
4 polycystic kidney disease 30.5 PKD1 PKHD1 REN
5 portal hypertension 30.5 AGTR1 PKHD1
6 autosomal dominant polycystic kidney disease 30.1 PKD1 PKHD1 REN
7 renal dysplasia 29.8 AGTR1 REN
8 encephalocele 29.8 CC2D2A TMEM67
9 kidney disease 29.8 AGTR1 PKD1 PKHD1 REN TMEM67
10 liver disease 29.8 PKD1 PKHD1 SLC17A5
11 arteries, anomalies of 29.5 AGTR1 REN
12 joubert syndrome 1 29.5 CC2D2A RPGRIP1L TMEM67
13 hypertension, essential 29.4 AGTR1 PKD1 REN
14 nephronophthisis 29.1 CC2D2A PKD1 PKHD1 RPGRIP1L TMEM67
15 isolated congenital hepatic fibrosis 12.4
16 congestive heart failure 12.0
17 meckel syndrome, type 7 11.1
18 crimean-congo hemorrhagic fever 11.1
19 rere-related disorders 10.8
20 atrial fibrillation 10.3
21 depression 10.2
22 polycystic liver disease 10.2 PKD1 PKHD1
23 systolic heart failure 10.2
24 cholangitis 10.2
25 polycystic kidney disease 2 with or without polycystic liver disease 10.1 PKD1 PKHD1
26 anxiety 10.1
27 medullary sponge kidney 10.1
28 talipes equinovarus 10.1 CC2D2A PKD1
29 polycystic liver disease 1 with or without kidney cysts 10.1 PKD1 PKHD1
30 renal artery disease 10.1 AGTR1 REN
31 anuria 10.1 AGTR1 REN
32 malignant hypertension 10.1 AGTR1 REN
33 fibromuscular dysplasia 10.1 AGTR1 REN
34 renal hypertension 10.1 AGTR1 REN
35 renal tubular dysgenesis 10.1 AGTR1 REN
36 renovascular hypertension 10.1 AGTR1 REN
37 multicystic dysplastic kidney 10.1 PKD1 REN
38 senior-loken syndrome 1 10.1 CC2D2A TMEM67
39 familial hypertension 10.0 AGTR1 REN
40 progressive familial heart block, type ia 10.0
41 cystic fibrosis 10.0
42 bestrophinopathy, autosomal recessive 10.0
43 mitral valve insufficiency 10.0
44 pneumonia 10.0
45 vesicoureteral reflux 1 10.0 AGTR1 REN
46 end stage renal failure 10.0 AGTR1 PKD1
47 hepatocellular carcinoma 10.0
48 protein-losing enteropathy 10.0
49 cholestasis 10.0
50 iga glomerulonephritis 10.0 AGTR1 REN

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.98 AGTR1 CC2D2A PKD1 PKHD1 REN RPGRIP1L
2 growth/size/body region MP:0005378 9.92 AGTR1 CC2D2A PKD1 PKHD1 REN RPGRIP1L
3 digestive/alimentary MP:0005381 9.77 CC2D2A PKD1 PKHD1 RPGRIP1L TMEM67
4 mortality/aging MP:0010768 9.76 AGTR1 CC2D2A PKD1 PKHD1 REN RPGRIP1L
5 craniofacial MP:0005382 9.71 CC2D2A PKD1 RPGRIP1L TMEM67
6 limbs/digits/tail MP:0005371 9.56 CC2D2A PKD1 RPGRIP1L TMEM67
7 nervous system MP:0003631 9.56 AGTR1 CC2D2A PKD1 PKHD1 REN RPGRIP1L
8 renal/urinary system MP:0005367 9.17 AGTR1 CC2D2A PKD1 PKHD1 REN 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 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 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
4 Natural History of Noncirrhotic Portal Hypertension Recruiting NCT02417740

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 30

Anatomical Context for Congenital Hepatic Fibrosis

MalaCards organs/tissues related to Congenital Hepatic Fibrosis:

42
Liver, Kidney, Heart, Spleen

Publications for Congenital Hepatic Fibrosis

Articles related to Congenital Hepatic Fibrosis:

(show top 50) (show all 235)
# Title Authors Year
1
Portal Hypertensive Biliopathy as a Cause of Severe Cholestasis in Children With Congenital Hepatic Fibrosis. ( 30777560 )
2019
2
Congenital hepatic fibrosis with polycystic kidney disease: Two case reports. ( 31096464 )
2019
3
Short article: Sequence variations of PKHD1 underlie congenital hepatic fibrosis in a Chinese family. ( 30507656 )
2019
4
The successful treatment of hepatocellular carcinoma arising from congenital hepatic fibrosis using radiofrequency ablation under laparoscopy. ( 30617852 )
2019
5
CONGENITAL HEPATIC FIBROSIS AND OBLITERATIVE PORTAL VENOPATHY WITHOUT PORTAL HYPERTENSION - A REVIEW OF LITERATURE BASED ON AN ASYMPTOMATIC CASE. ( 30785513 )
2018
6
Spontaneous Extrahepatic Portosystemic Shunt in Congenital Hepatic Fibrosis. ( 26854654 )
2018
7
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. ( 29140564 )
2018
8
Congenital Hepatic Fibrosis in a Purebred Spanish Horse Foal: Pathology and Genetic Studies on PKHD1 Gene Mutations. ( 29402207 )
2018
9
A teenage patient with autosomal recessive polycystic kidney disease, a splenorenal shunt, and congenital hepatic fibrosis: a case report. ( 30199558 )
2018
10
Congenital Hepatic Fibrosis with Polycystic Kidney Disease: An Unusual Cause of Neonatal Cholestasis. ( 28737145 )
2017
11
Laparoscopic distal splenoadrenal shunt for the treatment of portal hypertension in children with congenital hepatic fibrosis: A case report. ( 28099341 )
2017
12
Hassab's operation for Joubert syndrome with congenital hepatic fibrosis: A case report. ( 28402911 )
2017
13
Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype-phenotype relationship. ( 28680603 )
2017
14
Congenital hepatic fibrosis in a 9-year-old female patient - a case report. ( 29062909 )
2017
15
Macrophage recruitment by fibrocystin-defective biliary epithelial cells promotes portal fibrosis in congenital hepatic fibrosis. ( 26645994 )
2016
16
Congenital hepatic fibrosis: clinical presentation, laboratory features and management at a tertiary care hospital of Lahore. ( 27524533 )
2016
17
Evidence for a "Pathogenic Triumvirate" in Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney Disease. ( 27891514 )
2016
18
Pediatric living donor liver transplantation for congenital hepatic fibrosis using a mother's graft with von Meyenburg complex: A case report. ( 27956812 )
2016
19
Obscure gastrointestinal bleeding in a patient with congenital hepatic fibrosis and Crohn's disease. ( 26334465 )
2015
20
Novel variant syndrome associated with congenital hepatic fibrosis. ( 26488028 )
2015
21
A Family of Congenital Hepatic Fibrosis and Atypical Retinitis Pigmentosa. ( 26918098 )
2015
22
Congenital hepatic fibrosis and polycystic kidney disease not linked to C >A mutation in exon 29 of PKD1 in a Persian cat. ( 28491400 )
2015
23
Dealing with congenital hepatic fibrosis? Remember COACH syndrome. ( 26183508 )
2014
24
Laparoscopic findings of congenital hepatic fibrosis: A case report and review of the published work. ( 23730817 )
2014
25
Congenital hepatic fibrosis in a child with Prader-Willi syndrome: a novel association. ( 24658561 )
2014
26
Congenital hepatic fibrosis with multiple HNF1α hepatocellular adenomas. ( 24981780 )
2014
27
Congenital hepatic fibrosis in the Franches-Montagnes horse is associated with the polycystic kidney and hepatic disease 1 (PKHD1) gene. ( 25295861 )
2014
28
Congenital hepatic fibrosis with extra-hepatic porto-systemic shunt and hepatopulmonary syndrome successfully managed with living related liver transplantation. ( 25470876 )
2014
29
Multiple comet tail artifacts in the liver: a case of congenital hepatic fibrosis showing unusual biliary appearance. ( 27277914 )
2014
30
Recurrent Cholangitis with Congenital Hepatic Fibrosis and Pancreaticobiliary Maljunction after Roux-en-Y Reconstruction. ( 25755951 )
2013
31
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. ( 23041322 )
2013
32
Phenotypic variation and long-term outcome in children with congenital hepatic fibrosis. ( 23518487 )
2013
33
Unexplained cyanosis revealing hepatopulmonary syndrome in a child with asymptomatic congenital hepatic fibrosis: a case report. ( 23628315 )
2013
34
Protein kinase A-dependent pSer(675) -β-catenin, a novel signaling defect in a mouse model of congenital hepatic fibrosis. ( 23744610 )
2013
35
Familial congenital hepatic fibrosis: report of a family with three affected children. ( 24338199 )
2013
36
Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease. ( 21694639 )
2012
37
Sequential liver-kidney transplantation in a boy with congenital hepatic fibrosis and nephronophthisis from a living donor. ( 22129440 )
2012
38
Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease. ( 22197937 )
2012
39
A Case of Congenital Hepatic Fibrosis Associated With Medullary Sponge Kidney-Radiologic and Pathologic Features. ( 27785182 )
2012
40
[Autosomal-recessive renal cystic disease and congenital hepatic fibrosis: clinico-anatomic case]. ( 22937583 )
2012
41
Congenital hepatic fibrosis leading to cirrhosis and hepatocellular carcinoma: a case report. ( 21513523 )
2011
42
Congenital hepatic fibrosis in autosomal recessive polycystic kidney disease. ( 22212229 )
2011
43
Recent progress in the etiopathogenesis of pediatric biliary disease, particularly Caroli's disease with congenital hepatic fibrosis and biliary atresia. ( 20017109 )
2010
44
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). ( 19574260 )
2010
45
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. ( 19914852 )
2010
46
Congenital hepatic fibrosis in 5 dogs. ( 20080489 )
2010
47
Experience of a single center with congenital hepatic fibrosis: a review of the literature. ( 20135715 )
2010
48
Thrombocytopenia and splenomegaly: an unusual presentation of congenital hepatic fibrosis. ( 20384987 )
2010
49
Renin-angiotensin system activation in congenital hepatic fibrosis in the PCK rat model of autosomal recessive polycystic kidney disease. ( 20400910 )
2010
50
Congenital hepatic fibrosis without any symptoms as diagnosed by laparoscopy. ( 21175498 )
2010

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 10.79 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 centrosome GO:0005813 9.58 PKHD1 RPGRIP1L TMEM67
3 cell projection GO:0042995 9.55 CC2D2A PKD1 PKHD1 RPGRIP1L TMEM67
4 ciliary membrane GO:0060170 9.37 PKD1 TMEM67
5 MKS complex GO:0036038 9.26 CC2D2A TMEM67
6 ciliary transition zone GO:0035869 9.13 CC2D2A RPGRIP1L TMEM67
7 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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