MCID: CNG048
MIFTS: 42

Congenital Hepatic Fibrosis

Categories: Rare diseases, Genetic diseases, Liver diseases

Aliases & Classifications for Congenital Hepatic Fibrosis

MalaCards integrated aliases for Congenital Hepatic Fibrosis:

Name: Congenital Hepatic Fibrosis 23 50 24 25 29 52
Hepatic Fibrosis, Congenital 69
Congenital Fibrose Liver 25
Chf 25

Classifications:



Summaries for Congenital Hepatic Fibrosis

NIH Rare Diseases : 50 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 adenocarcinoma and isolated congenital hepatic fibrosis. 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 Renin secretion. The drugs Liver Extracts and Pancrelipase have 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 : 72 Congenital hepatic fibrosis is an inherited fibrocystic liver disease associated with proliferation of... more...

GeneReviews: NBK2701

Related Diseases for Congenital Hepatic Fibrosis

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

(show top 50) (show all 102)
id Related Disease Score Top Affiliating Genes
1 adenocarcinoma 29.9 AGTR1 REN
2 isolated congenital hepatic fibrosis 12.1
3 coach syndrome 11.8
4 polycystic kidney disease 4, with or without hepatic disease 10.8
5 caroli disease 10.8
6 hepatitis 10.8
7 fragile x-associated tremor/ataxia syndrome 10.4 PKD1 PKHD1
8 clitoris cancer 10.4 AGTR1 REN
9 chylocele of tunica vaginalis 10.4 AGTR1 REN
10 fibular aplasia ectrodactyly 10.3 AGTR1 REN
11 broad ligament malignant neoplasm 10.3 AGTR1 REN
12 lymphadenitis 10.3 AGTR1 REN
13 renal tubular dysgenesis 10.3 AGTR1 REN
14 thyroid dyshormonogenesis 1 10.3 PKD1 PKHD1
15 panuveitis 10.3 AGTR1 REN
16 kidney disease 10.3
17 polycystic kidney disease 10.3
18 congenital bilateral megacalycosis 10.3 AGTR1 REN
19 spastic ataxia 1 10.2 PKD1 PKHD1
20 autism 19 10.2 PKD1 PKHD1
21 renal clear cell carcinoma 10.2 AGTR1 REN
22 bubonic plague 10.2 AGTR1 PKHD1
23 prostate neuroendocrine neoplasm 10.1 AGTR1 REN
24 silver-russell syndrome due to 11p15 microduplication 10.1 REN SLC17A5
25 cascade stomach 10.1 AGTR1 PKHD1 REN
26 lymphoplasmacytic lymphoma 10.1 PKD1 PKHD1
27 portal hypertension 10.0
28 paranasal sinus sarcoma 10.0 REN SLC17A5
29 lacrimal gland adenocarcinoma 10.0 CC2D2A PKD1 PKHD1
30 autosomal dominant polycystic kidney disease 10.0
31 pleural tuberculosis 10.0 AGTR1 REN
32 cervix uteri carcinoma in situ 10.0 PKD1 PKHD1 REN
33 cholangitis 10.0
34 congenital heart defects, multiple types, 3 9.9 CC2D2A TMEM67
35 nephronophthisis 9.9
36 perrault syndrome 9.9 AGTR1 REN
37 exocrine pancreatic insufficiency 9.9 AGTR1 PKD1
38 chronic myelomonocytic leukemia 9.9 AGTR1 PKD1 REN
39 senior-loken syndrome-1 9.8 CC2D2A TMEM67
40 protein-losing enteropathy 9.8
41 hepatopulmonary syndrome 9.8
42 medullary sponge kidney 9.8
43 hypertension, essential 9.8 AGTR1 PKD1 REN
44 hepatocellular carcinoma 9.7
45 pulmonary hypertension 9.7
46 liver disease 9.7
47 cholestasis 9.7
48 retinitis 9.7
49 aneurysm 9.7
50 renal dysplasia 9.7

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:

44
id 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 mortality/aging MP:0010768 9.76 AGTR1 CC2D2A PKD1 PKHD1 REN RPGRIP1L
4 craniofacial MP:0005382 9.71 CC2D2A PKD1 RPGRIP1L TMEM67
5 digestive/alimentary MP:0005381 9.67 PKD1 PKHD1 TMEM67 CC2D2A
6 limbs/digits/tail MP:0005371 9.56 CC2D2A PKD1 RPGRIP1L TMEM67
7 nervous system MP:0003631 9.56 REN RPGRIP1L SLC17A5 TMEM67 AGTR1 CC2D2A
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):

(show all 22)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 2
2
Pancrelipase Approved 53608-75-6
3
Iron Approved 7439-89-6 23925
4
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741 24759
5 Alpha 1-Antitrypsin
6 pancreatin
7 Protein C Inhibitor
8 Hematinics
9 Micronutrients
10 Trace Elements
11 Antibodies
12 Hepatitis C Antibodies
13 Immunoglobulins
14 Adjuvants, Immunologic
15 Protective Agents
16 Viscosupplements
17 HIV Protease Inhibitors
18
protease inhibitors
19 Serine Proteinase Inhibitors
20 Trypsin Inhibitors
21 Spirulina Nutraceutical
22 serine Nutraceutical

Interventional clinical trials:


id 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 the Correlation Between Non-invasive Indicators in Patients With Biliary Atresia Completed NCT02848573
3 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
4 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
5 Natural History of Noncirrhotic Portal Hypertension Recruiting NCT02417740
6 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Recruiting NCT02372682
7 Liver Fibrosis in Sickle Cell Disease Recruiting NCT02007746
8 Effect of Spirulina on Liver Fibrosis by Transient Elastography in Beta Thalassemic Children With Hepatitis C Active, not recruiting NCT02744105
9 Effect of Spirulina on Serum Hyaluronic Acid in Beta Thalassemic Children With Hepatitis C Active, not recruiting NCT02744547
10 FibroScan™ in Pediatric Cholestatic Liver Disease Study Protocol Enrolling by invitation NCT02922751

Search NIH Clinical Center for Congenital Hepatic Fibrosis

Genetic Tests for Congenital Hepatic Fibrosis

Genetic tests related to Congenital Hepatic Fibrosis:

id Genetic test Affiliating Genes
1 Congenital Hepatic Fibrosis 29 24

Anatomical Context for Congenital Hepatic Fibrosis

MalaCards organs/tissues related to Congenital Hepatic Fibrosis:

39
Liver, Kidney, Spleen, Heart

Publications for Congenital Hepatic Fibrosis

Articles related to Congenital Hepatic Fibrosis:

(show top 50) (show all 220)
id Title Authors Year
1
Laparoscopic distal splenoadrenal shunt for the treatment of portal hypertension in children with congenital hepatic fibrosis: A case report. ( 28099341 )
2017
2
Congenital Hepatic Fibrosis with Polycystic Kidney Disease: An Unusual Cause of Neonatal Cholestasis. ( 28737145 )
2017
3
Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype-phenotype relationship. ( 28680603 )
2017
4
Hassab's operation for Joubert syndrome with congenital hepatic fibrosis: A case report. ( 28402911 )
2017
5
Pediatric living donor liver transplantation for congenital hepatic fibrosis using a mother's graft with von Meyenburg complex: A case report. ( 27956812 )
2016
6
Macrophage recruitment by fibrocystin-defective biliary epithelial cells promotes portal fibrosis in congenital hepatic fibrosis. ( 26645994 )
2016
7
Congenital hepatic fibrosis: clinical presentation, laboratory features and management at a tertiary care hospital of Lahore. ( 27524533 )
2016
8
Evidence for a "Pathogenic Triumvirate" in Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney Disease. ( 27891514 )
2016
9
Spontaneous Extra-hepatic Portosystemic Shunt in Congenital Hepatic Fibrosis. ( 26854654 )
2016
10
Congenital hepatic fibrosis and polycystic kidney disease not linked to C >A mutation in exon 29 of PKD1 in a Persian cat. ( 28491400 )
2015
11
A Family of Congenital Hepatic Fibrosis and Atypical Retinitis Pigmentosa. ( 26918098 )
2015
12
Obscure gastrointestinal bleeding in a patient with congenital hepatic fibrosis and Crohn's disease. ( 26334465 )
2015
13
Novel variant syndrome associated with congenital hepatic fibrosis. ( 26488028 )
2015
14
Dealing with congenital hepatic fibrosis? Remember COACH syndrome. ( 26183508 )
2014
15
Congenital hepatic fibrosis in a child with Prader-Willi syndrome: a novel association. ( 24658561 )
2014
16
Congenital Hepatic Fibrosis in the Franches-Montagnes Horse Is Associated with the Polycystic Kidney and Hepatic Disease 1 (PKHD1) Gene. ( 25295861 )
2014
17
Congenital hepatic fibrosis with extra-hepatic porto-systemic shunt and hepatopulmonary syndrome successfully managed with living related liver transplantation. ( 25470876 )
2014
18
Multiple comet tail artifacts in the liver: a case of congenital hepatic fibrosis showing unusual biliary appearance. ( 27277914 )
2014
19
Congenital hepatic fibrosis with multiple HNF1I+ hepatocellular adenomas. ( 24981780 )
2014
20
Congenital hepatic fibrosis with extra-hepatic porto-systemic shunt and hepatopulmonary syndrome successfully managed with living related liver transplantation. ( 25508503 )
2014
21
Familial congenital hepatic fibrosis: report of a family with three affected children. ( 24338199 )
2013
22
Phenotypic variation and long-term outcome in children with congenital hepatic fibrosis. ( 23518487 )
2013
23
Unexplained cyanosis revealing hepatopulmonary syndrome in a child with asymptomatic congenital hepatic fibrosis: a case report. ( 23628315 )
2013
24
Protein kinase a-dependent pSer(675) -I^-catenin, a novel signaling defect in a mouse model of congenital hepatic fibrosis. ( 23744610 )
2013
25
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. ( 23041322 )
2013
26
Laparoscopic findings of congenital hepatic fibrosis: A case report and review of the published work. ( 23730817 )
2013
27
Recurrent Cholangitis with Congenital Hepatic Fibrosis and Pancreaticobiliary Maljunction after Roux-en-Y Reconstruction. ( 25755951 )
2013
28
Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease. ( 22197937 )
2012
29
Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease. ( 21694639 )
2012
30
Sequential liver-kidney transplantation in a boy with congenital hepatic fibrosis and nephronophthisis from a living donor. ( 22129440 )
2012
31
Congenital hepatic fibrosis leading to cirrhosis and hepatocellular carcinoma: a case report. ( 21513523 )
2011
32
Congenital hepatic fibrosis in autosomal recessive polycystic kidney disease. ( 22212229 )
2011
33
Thrombocytopenia and splenomegaly: an unusual presentation of congenital hepatic fibrosis. ( 20384987 )
2010
34
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. ( 19914852 )
2010
35
Congenital hepatic fibrosis in 5 dogs. ( 20080489 )
2010
36
Experience of a single center with congenital hepatic fibrosis: a review of the literature. ( 20135715 )
2010
37
Congenital hepatic fibrosis without any symptoms as diagnosed by laparoscopy. ( 21175498 )
2010
38
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). ( 19574260 )
2010
39
Renin-angiotensin system activation in congenital hepatic fibrosis in the PCK rat model of autosomal recessive polycystic kidney disease. ( 20400910 )
2010
40
Recent progress in the etiopathogenesis of pediatric biliary disease, particularly Caroli's disease with congenital hepatic fibrosis and biliary atresia. ( 20017109 )
2010
41
Matrix proteins of basement membrane of intrahepatic bile ducts are degraded in congenital hepatic fibrosis and Caroli's disease. ( 19025978 )
2009
42
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). ( 19089418 )
2009
43
Congenital hepatic fibrosis in a child with autosomal dominant polycystic kidney disease. ( 19248702 )
2008
44
Rapid evolution of congenital hepatic fibrosis after liver transplantation for acute liver failure: the potential role of extrahepatic factors. ( 18433070 )
2008
45
Congenital absence of the portal vein associated with congenital hepatic fibrosis. ( 17632716 )
2007
46
Is portal vein cavernous transformation a component of congenital hepatic fibrosis? ( 17461491 )
2007
47
Papillon-lefevre syndrome with congenital hepatic fibrosis. ( 17917635 )
2007
48
Reversal of severe hepato-pulmonary syndrome in congenital hepatic fibrosis after living-related liver transplantation. ( 17558074 )
2007
49
Imaging findings in congenital hepatic fibrosis. ( 17164079 )
2007
50
TGF-beta1 is the possible shared pathogenetic factor on a patient with muscular dystrophy and congenital hepatic fibrosis. ( 16632228 )
2006

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:

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

GO Terms for Congenital Hepatic Fibrosis

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

id 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:

id Name GO ID Score Top Affiliating Genes
1 liver development GO:0001889 9.43 PKD1 RPGRIP1L
2 ciliary basal body 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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