MCID: CRR016
MIFTS: 21

Cirrhosis, Familial

Categories: Genetic diseases

Aliases & Classifications for Cirrhosis, Familial

MalaCards integrated aliases for Cirrhosis, Familial:

Name: Cirrhosis, Familial 58
Familial Cirrhosis 38

Characteristics:

OMIM:

58
Inheritance:
? autosomal dominant


Classifications:



Summaries for Cirrhosis, Familial

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

Wikipedia : 77 Familial cirrhosis is a form of liver disease that is inherited and the liver scarring is not caused by... more...

Description from OMIM: 118900

Related Diseases for Cirrhosis, Familial

Diseases related to Cirrhosis, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 primary biliary cholangitis 11.4
2 glycogen storage disease iv 11.3
3 hemochromatosis, type 1 11.1
4 biliary cirrhosis, primary, 1 9.8
5 primary biliary cirrhosis 9.8
6 australia antigen 9.6
7 glycogen storage disease 9.6
8 liver cirrhosis 9.6
9 rickets 9.6
10 glycogen storage disease due to glycogen branching enzyme deficiency 9.6

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:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 HP:0000822
2 fever 33 HP:0001945
3 pulmonary arterial hypertension 33 HP:0002092
4 cirrhosis 33 HP:0001394
5 jaundice 33 HP:0000952
6 esophageal varix 33 HP:0002040
7 lethargy 33 HP:0001254
8 abdominal distention 33 HP:0003270
9 increased antibody level in blood 33 HP:0010702
10 micronodular cirrhosis 33 HP:0001413
11 chronic active hepatitis 33 HP:0200120
12 increased level of l-fucose in urine 33 HP:0410067
13 increased level of propylene glycol in blood 33 HP:0410069

Symptoms via clinical synopsis from OMIM:

58
G I:
cirrhosis
chronic liver disease
chronic active hepatitis

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:

42
Liver

Publications for Cirrhosis, Familial

Articles related to Cirrhosis, Familial:

(show all 11)
# Title Authors Year
1
Glycogen storage disease (Type IV): a familial cirrhosis diagnosed by electron microscopy (case report). ( 6938485 )
1980
2
Idiopathic familial cirrhosis and steatosis in adults. ( 499708 )
1979
3
Familial cirrhosis. ( 507007 )
1979
4
Familial cirrhosis. ( 4820008 )
1974
5
Australia antigen in familial cirrhosis. ( 4099909 )
1971
6
Familial cirrhosis with autoimmune features and raised immunoglobulin levels. ( 4097813 )
1970
7
Familial cirrhosis with hepatoma. ( 4290749 )
1967
8
FAMILIAL CIRRHOSIS OF THE LIVER, RENAL TUBULAR DEFECTS WITH RICKETS AND IMPAIRED TYROSINE METABOLISM. ( 14114313 )
1964
9
FAMILIAL CIRRHOSIS: A CLINICAL AND PATHOLOGICAL STUDY. ( 14217129 )
1964
10
Familial cirrhosis of the liver with storage of abnormal glycogen. ( 13279125 )
1956
11
Two Cases of Congenital Familial Cirrhosis of the Liver. ( 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
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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