CHF
MCID: CNG048
MIFTS: 41

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 53 25 29 55
Hepatic Fibrosis, Congenital 73
Congenital Fibrose Liver 25
Chf 25

Classifications:



External Ids:

UMLS 73 C0009714

Summaries for Congenital Hepatic Fibrosis

NIH Rare Diseases : 53 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, Fibrocystin/Polyductin), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Agents Acting on the Renin-Angiotensin System 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 : 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.

Wikipedia : 76 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 115)
# Related Disease Score Top Affiliating Genes
1 coach syndrome 33.1 CC2D2A RPGRIP1L TMEM67
2 polycystic kidney disease 4 with or without polycystic liver disease 32.0 PKD1 PKHD1 TMEM67
3 caroli disease 31.7 PKD1 PKHD1
4 portal hypertension 30.4 AGTR1 PKHD1
5 polycystic kidney disease 30.4 PKD1 PKHD1 REN
6 autosomal dominant polycystic kidney disease 29.9 PKD1 PKHD1 REN
7 kidney disease 29.9 AGTR1 PKD1 PKHD1 REN TMEM67
8 joubert syndrome 1 29.8 CC2D2A RPGRIP1L TMEM67
9 encephalocele 29.8 CC2D2A TMEM67
10 liver disease 29.7 PKD1 PKHD1 SLC17A5
11 renal dysplasia 29.7 AGTR1 REN
12 nephronophthisis 29.6 CC2D2A PKD1 PKHD1 RPGRIP1L TMEM67
13 isolated congenital hepatic fibrosis 12.4
14 congestive heart failure 11.9
15 meckel syndrome, type 7 11.1
16 crimean-congo hemorrhagic fever 11.0
17 cholangitis 10.1
18 atrial fibrillation 10.1
19 systolic heart failure 10.1
20 medullary sponge kidney 10.1
21 polycystic liver disease 10.1 PKD1 PKHD1
22 senior-loken syndrome 1 10.1 CC2D2A TMEM67
23 polycystic kidney disease 2 with or without polycystic liver disease 10.0 PKD1 PKHD1
24 progressive familial heart block, type ia 10.0
25 anxiety 10.0
26 depression 10.0
27 talipes equinovarus 10.0 CC2D2A PKD1
28 polycystic liver disease 1 with or without kidney cysts 10.0 PKD1 PKHD1
29 protein-losing enteropathy 10.0
30 hepatopulmonary syndrome 10.0
31 renal artery disease 10.0 AGTR1 REN
32 anuria 10.0 AGTR1 REN
33 malignant hypertension 10.0 AGTR1 REN
34 fibromuscular dysplasia 10.0 AGTR1 REN
35 renal hypertension 10.0 AGTR1 REN
36 renal tubular dysgenesis 10.0 AGTR1 REN
37 renovascular hypertension 10.0 AGTR1 REN
38 familial hypertension 9.9 AGTR1 REN
39 end stage renal failure 9.9 AGTR1 PKD1
40 meckel syndrome, type 3 9.9 CC2D2A RPGRIP1L TMEM67
41 idiopathic hypercalciuria 9.9 REN SLC17A5
42 nephronophthisis 11 9.9 CC2D2A RPGRIP1L TMEM67
43 bardet-biedl syndrome 15 9.9 CC2D2A RPGRIP1L TMEM67
44 meckel syndrome, type 6 9.9 CC2D2A RPGRIP1L TMEM67
45 bardet-biedl syndrome 13 9.9 CC2D2A RPGRIP1L TMEM67
46 meckel syndrome, type 1 9.9 CC2D2A RPGRIP1L TMEM67
47 vesicoureteral reflux 1 9.9 AGTR1 REN
48 hepatocellular carcinoma 9.9
49 cholangiocarcinoma 9.9
50 pulmonary hypertension 9.9

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:

46
# 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 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
3 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
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 29

Anatomical Context for Congenital Hepatic Fibrosis

MalaCards organs/tissues related to Congenital Hepatic Fibrosis:

41
Liver, Kidney, Spleen, Heart

Publications for Congenital Hepatic Fibrosis

Articles related to Congenital Hepatic Fibrosis:

(show top 50) (show all 232)
# Title Authors Year
1
Congenital Hepatic Fibrosis in a Purebred Spanish Horse Foal: Pathology and Genetic Studies on PKHD1 Gene Mutations. ( 29402207 )
2018
2
A teenage patient with autosomal recessive polycystic kidney disease, a splenorenal shunt, and congenital hepatic fibrosis: a case report. ( 30199558 )
2018
3
Sequence variations of PKHD1 underlie congenital hepatic fibrosis in a Chinese family. ( 30507656 )
2018
4
Congenital Hepatic Fibrosis with Polycystic Kidney Disease: An Unusual Cause of Neonatal Cholestasis. ( 28737145 )
2017
5
Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype-phenotype relationship. ( 28680603 )
2017
6
Congenital hepatic fibrosis in a 9-year-old female patient - a case report. ( 29062909 )
2017
7
I^-catenin and IL-1I^ dependent CXCL10 production drives progression of disease in a mouse model of Congenital Hepatic Fibrosis. ( 29140564 )
2017
8
Laparoscopic distal splenoadrenal shunt for the treatment of portal hypertension in children with congenital hepatic fibrosis: A case report. ( 28099341 )
2017
9
Hassab's operation for Joubert syndrome with congenital hepatic fibrosis: A case report. ( 28402911 )
2017
10
Pediatric living donor liver transplantation for congenital hepatic fibrosis using a mother's graft with von Meyenburg complex: A case report. ( 27956812 )
2016
11
Spontaneous Extra-hepatic Portosystemic Shunt in Congenital Hepatic Fibrosis. ( 26854654 )
2016
12
Congenital hepatic fibrosis: clinical presentation, laboratory features and management at a tertiary care hospital of Lahore. ( 27524533 )
2016
13
Evidence for a "Pathogenic Triumvirate" in Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney Disease. ( 27891514 )
2016
14
Macrophage recruitment by fibrocystin-defective biliary epithelial cells promotes portal fibrosis in congenital hepatic fibrosis. ( 26645994 )
2016
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
Obscure gastrointestinal bleeding in a patient with congenital hepatic fibrosis and Crohn's disease. ( 26334465 )
2015
18
Congenital hepatic fibrosis and polycystic kidney disease not linked to C >A mutation in exon 29 of PKD1 in a Persian cat. ( 28491400 )
2015
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 multiple HNF1I+ hepatocellular adenomas. ( 24981780 )
2014
21
Congenital Hepatic Fibrosis in the Franches-Montagnes Horse Is Associated with the Polycystic Kidney and Hepatic Disease 1 (PKHD1) Gene. ( 25295861 )
2014
22
Dealing with congenital hepatic fibrosis? Remember COACH syndrome. ( 26183508 )
2014
23
Congenital hepatic fibrosis in a child with Prader-Willi syndrome: a novel association. ( 24658561 )
2014
24
Congenital hepatic fibrosis with extra-hepatic porto-systemic shunt and hepatopulmonary syndrome successfully managed with living related liver transplantation. ( 25508503 )
2014
25
Congenital hepatic fibrosis with extra-hepatic porto-systemic shunt and hepatopulmonary syndrome successfully managed with living related liver transplantation. ( 25470876 )
2014
26
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. ( 23041322 )
2013
27
Laparoscopic findings of congenital hepatic fibrosis: A case report and review of the published work. ( 23730817 )
2013
28
Protein kinase a-dependent pSer(675) -I^-catenin, a novel signaling defect in a mouse model of congenital hepatic fibrosis. ( 23744610 )
2013
29
Unexplained cyanosis revealing hepatopulmonary syndrome in a child with asymptomatic congenital hepatic fibrosis: a case report. ( 23628315 )
2013
30
Recurrent Cholangitis with Congenital Hepatic Fibrosis and Pancreaticobiliary Maljunction after Roux-en-Y Reconstruction. ( 25755951 )
2013
31
Familial congenital hepatic fibrosis: report of a family with three affected children. ( 24338199 )
2013
32
Phenotypic variation and long-term outcome in children with congenital hepatic fibrosis. ( 23518487 )
2013
33
Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease. ( 22197937 )
2012
34
[Autosomal-recessive renal cystic disease and congenital hepatic fibrosis: clinico-anatomic case]. ( 22937583 )
2012
35
Sequential liver-kidney transplantation in a boy with congenital hepatic fibrosis and nephronophthisis from a living donor. ( 22129440 )
2012
36
Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease. ( 21694639 )
2012
37
A Case of Congenital Hepatic Fibrosis Associated With Medullary Sponge Kidney-Radiologic and Pathologic Features. ( 27785182 )
2012
38
Congenital hepatic fibrosis in autosomal recessive polycystic kidney disease. ( 22212229 )
2011
39
Congenital hepatic fibrosis leading to cirrhosis and hepatocellular carcinoma: a case report. ( 21513523 )
2011
40
Recent progress in the etiopathogenesis of pediatric biliary disease, particularly Caroli's disease with congenital hepatic fibrosis and biliary atresia. ( 20017109 )
2010
41
Congenital hepatic fibrosis in 5 dogs. ( 20080489 )
2010
42
Renin-angiotensin system activation in congenital hepatic fibrosis in the PCK rat model of autosomal recessive polycystic kidney disease. ( 20400910 )
2010
43
Experience of a single center with congenital hepatic fibrosis: a review of the literature. ( 20135715 )
2010
44
Thrombocytopenia and splenomegaly: an unusual presentation of congenital hepatic fibrosis. ( 20384987 )
2010
45
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. ( 19914852 )
2010
46
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). ( 19574260 )
2010
47
Congenital hepatic fibrosis without any symptoms as diagnosed by laparoscopy. ( 21175498 )
2010
48
Congenital hepatic fibrosis and need for liver transplantation. ( 25013573 )
2010
49
Matrix proteins of basement membrane of intrahepatic bile ducts are degraded in congenital hepatic fibrosis and Caroli's disease. ( 19025978 )
2009
50
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). ( 19089418 )
2009

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 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....