MCID: ISL112
MIFTS: 10

Isolated Congenital Hepatic Fibrosis

Categories: Liver diseases, Rare diseases

Aliases & Classifications for Isolated Congenital Hepatic Fibrosis

MalaCards integrated aliases for Isolated Congenital Hepatic Fibrosis:

Name: Isolated Congenital Hepatic Fibrosis 58
Isolated Chf 58

Classifications:

Orphanet: 58  
Rare hepatic diseases


External Ids:

Orphanet 58 ORPHA485426

Summaries for Isolated Congenital Hepatic Fibrosis

MalaCards based summary : Isolated Congenital Hepatic Fibrosis, also known as isolated chf, is related to congenital hepatic fibrosis and fibrosis of extraocular muscles, congenital, 1. Affiliated tissues include liver, heart and kidney.

Related Diseases for Isolated Congenital Hepatic Fibrosis

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

# Related Disease Score Top Affiliating Genes
1 congenital hepatic fibrosis 11.8
2 fibrosis of extraocular muscles, congenital, 1 9.9
3 portal hypertension 9.9

Symptoms & Phenotypes for Isolated Congenital Hepatic Fibrosis

Drugs & Therapeutics for Isolated Congenital Hepatic Fibrosis

Search Clinical Trials , NIH Clinical Center for Isolated Congenital Hepatic Fibrosis

Genetic Tests for Isolated Congenital Hepatic Fibrosis

Anatomical Context for Isolated Congenital Hepatic Fibrosis

MalaCards organs/tissues related to Isolated Congenital Hepatic Fibrosis:

40
Liver, Heart, Kidney, Brain, Fetal Liver

Publications for Isolated Congenital Hepatic Fibrosis

Articles related to Isolated Congenital Hepatic Fibrosis:

# Title Authors PMID Year
1
Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype-phenotype relationship. 61
28680603 2017
2
[ASSESSING THE IMPACT OF CARDIAC DYSSYNCHRONY ON QUALITY OF LIFE IN PATIENTS WITH CHRONIC HEART FAILURE IN COMBINATION WITH TYPE 2 DIABETES MELLITUS]. 61
26118081 2014
3
Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease. 61
22197937 2012
4
Congestive heart failure effects on atrial fibroblast phenotype: differences between freshly-isolated and cultured cells. 61
23251678 2012
5
Mutation of delta-sarcoglycan is associated with Ca(2+) -dependent vascular remodeling in the Syrian hamster. 61
17591963 2007
6
[Sleep-disordered breathing and left ventricular remodeling in patients with chronic heart failure]. 61
16624760 2006
7
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). 61
16523049 2006
8
Brain natriuretic peptide in patients with congestive heart failure and central sleep apnea. 61
15888844 2005
9
Morphological and immunohistochemical analysis of ductal plate malformation: correlation with fetal liver. 61
15330804 2004
10
Type II diabetes mellitus, congestive heart failure, and zinc metabolism. 61
7509174 1993

Variations for Isolated Congenital Hepatic Fibrosis

Expression for Isolated Congenital Hepatic Fibrosis

Search GEO for disease gene expression data for Isolated Congenital Hepatic Fibrosis.

Pathways for Isolated Congenital Hepatic Fibrosis

GO Terms for Isolated Congenital Hepatic Fibrosis

Sources for Isolated 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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