MCID: CRR016
MIFTS: 21

Cirrhosis, Familial

Categories: Genetic diseases, Liver diseases

Aliases & Classifications for Cirrhosis, Familial

MalaCards integrated aliases for Cirrhosis, Familial:

Name: Cirrhosis, Familial 56
Familial Cirrhosis 36

Characteristics:

OMIM:

56
Inheritance:
? autosomal dominant


HPO:

31

Classifications:



Summaries for Cirrhosis, Familial

KEGG : 36 The keratin intermediate filaments (IF) have been identified as major cellular structures to be affected in a variety of chronic liver diseases, such as steatohepatitis, copper toxicosis, and cholestasis. Keratins 8 and 18 protect the liver from various forms of injury. It has been shown that KRT8 or KRT18 mutations predispose the liver to acute or subacute injury and promote apoptosis and fibrosis.

MalaCards based summary : Cirrhosis, Familial, also known as familial cirrhosis, is related to glycogen storage disease iv and hemochromatosis, type 1. An important gene associated with Cirrhosis, Familial is ALB (Albumin). Affiliated tissues include liver, and related phenotypes are hypertension and fever

Wikipedia : 74 Familial cirrhosis is a form of liver disease that is inherited and the liver scarring is not caused by... more...

More information from OMIM: 118900

Related Diseases for Cirrhosis, Familial

Graphical network of the top 20 diseases related to Cirrhosis, Familial:



Diseases related to Cirrhosis, Familial

Symptoms & Phenotypes for Cirrhosis, Familial

Human phenotypes related to Cirrhosis, Familial:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 fever 31 HP:0001945
3 pulmonary arterial hypertension 31 HP:0002092
4 cirrhosis 31 HP:0001394
5 jaundice 31 HP:0000952
6 esophageal varix 31 HP:0002040
7 lethargy 31 HP:0001254
8 abdominal distention 31 HP:0003270
9 increased antibody level in blood 31 HP:0010702
10 micronodular cirrhosis 31 HP:0001413
11 chronic active hepatitis 31 HP:0200120
12 increased level of l-fucose in urine 31 HP:0410067
13 increased level of propylene glycol in blood 31 HP:0410069

Symptoms via clinical synopsis from OMIM:

56
G I:
cirrhosis
chronic active hepatitis
chronic liver disease

Immunology:
raised immunoglobulin levels

Clinical features from OMIM:

118900

Drugs & Therapeutics for Cirrhosis, Familial

Search Clinical Trials , NIH Clinical Center for Cirrhosis, Familial

Genetic Tests for Cirrhosis, Familial

Anatomical Context for Cirrhosis, Familial

MalaCards organs/tissues related to Cirrhosis, Familial:

40
Liver

Publications for Cirrhosis, Familial

Articles related to Cirrhosis, Familial:

(show all 24)
# Title Authors PMID Year
1
Familial cirrhosis with autoimmune features and raised immunoglobulin levels. 61 56
4097813 1970
2
Genetic and immunological aspects of familial chronic active hepatitis (type B). 56
669217 1978
3
Family with hepatitis-associated antigen. Spectrum of liver pathology. 56
4999004 1971
4
A Novel Phosphoinositide-3-kinase Adapter Protein 1 Gene Missense Mutation in Familial Cirrhosis. 61
31695254 2019
5
Combined cardiac surgery and liver transplantation: three decades of worldwide results. 61
22187708 2011
6
Cholestasis and cholestatic syndromes. 61
16550034 2006
7
The wide spectrum of steatohepatitis: a report of four cases and a review of the literature. 61
15371930 2004
8
A rapid method for the detection of hepatitis C virus RNA by in situ hybridization. 61
8782210 1996
9
[Liver pathologies due to peroxisome disorders]. 61
8184191 1994
10
Heterozygous defects in alpha 1-antitrypsin and low-density lipoprotein receptor. Simultaneous occurrence in a pediatric patient. 61
6257988 1981
11
Glycogen storage disease (Type IV): a familial cirrhosis diagnosed by electron microscopy (case report). 61
6938485 1980
12
Idiopathic familial cirrhosis and steatosis in adults. 61
499708 1979
13
Familial cirrhosis. 61
507007 1979
14
[Viral familial cirrhosis of the liver]. 61
1186079 1975
15
Familial cirrhosis. 61
4820008 1974
16
Australia antigen in familial cirrhosis. 61
4099909 1971
17
Familial cirrhosis with hepatoma. 61
4290749 1967
18
[Personal contribution on the subject of familial cirrhosis of evolutive age]. 61
5829732 1964
19
FAMILIAL CIRRHOSIS: A CLINICAL AND PATHOLOGICAL STUDY. 61
14217129 1964
20
FAMILIAL CIRRHOSIS OF THE LIVER, RENAL TUBULAR DEFECTS WITH RICKETS AND IMPAIRED TYROSINE METABOLISM. 61
14114313 1964
21
[Congenital and familial cirrhosis, vitamin-resistant rickets with gluco-phosphoamine diabetes, terminal hepatoma]. 61
13760684 1961
22
Familial cirrhosis of the liver with storage of abnormal glycogen. 61
13279125 1956
23
Familial Hepatitis and Chronic Jaundice: (Section for the Study of Disease in Children). 61
19992037 1939
24
Two Cases of Congenital Familial Cirrhosis of the Liver. 61
19985330 1926

Variations for Cirrhosis, Familial

Expression for Cirrhosis, Familial

Search GEO for disease gene expression data for Cirrhosis, Familial.

Pathways for Cirrhosis, Familial

GO Terms for Cirrhosis, Familial

Sources for Cirrhosis, Familial

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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