MCID: CRR007
MIFTS: 23

Cirrhosis, Cryptogenic malady

Liver category

Summaries for Cirrhosis, Cryptogenic

Sources:
47OMIM, 33MalaCards
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MalaCards: Cirrhosis, Cryptogenic, also known as non-wilsonian hepatic copper toxicosis of infancy and childhood, is related to hepatoblastoma and bladder carcinoma. An important gene associated with Cirrhosis, Cryptogenic is KRT8 (keratin 8), and among its related pathways are Cytoskeletal Signaling and EGFR1 Signaling Pathway. The compounds griseofulvin and fitc have been mentioned in the context of this disorder. Affiliated tissues include liver.

Description from OMIM:47 215600

Aliases & Classifications for Cirrhosis, Cryptogenic

Sources:
47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Liver


Characteristics (Orphanet epidemiological data):

49
non-wilsonian hepatic copper toxicosis of infancy and childhood:
Age of onset: Childhood; Age of death: Child / adolescent


Aliases & Descriptions:

cirrhosis, cryptogenic 47
non-wilsonian hepatic copper toxicosis of infancy and childhood 49
idiopathic copper-associated cirrhosis 49


External Ids:

OMIM47 215600
ICD10 via Orphanet26 K74.6

Related Diseases for Cirrhosis, Cryptogenic

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Cirrhosis, Cryptogenic:



Diseases related to cirrhosis, cryptogenic

Clinical Features for Cirrhosis, Cryptogenic

Sources:
47OMIM
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Clinical features from OMIM:

215600

Clinical synopsis from OMIM:

215600

Drugs & Therapeutics for Cirrhosis, Cryptogenic

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Cirrhosis, Cryptogenic

Drug clinical trials:

Search ClinicalTrials for Cirrhosis, Cryptogenic

Search NIH Clinical Center for Cirrhosis, Cryptogenic

Search CenterWatch for Cirrhosis, Cryptogenic

Genetic Tests for Cirrhosis, Cryptogenic

Anatomical Context for Cirrhosis, Cryptogenic

Sources:
33MalaCards
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MalaCards organs/tissues related to Cirrhosis, Cryptogenic:

33
Liver

Animal Models for Cirrhosis, Cryptogenic or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Cirrhosis, Cryptogenic

Sources:
51PubMed
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Articles related to Cirrhosis, Cryptogenic:

(show all 17)
idTitleAuthorsYear
1
Use of serum vitamin B12 level as a marker to differentiate idiopathic noncirrhotic intrahepatic portal hypertension from cryptogenic cirrhosis. (22918688)
2013
2
Chronic Hepatitis E as a cause for cryptogenic cirrhosis in HIV. (22166370)
2013
3
Occult hepatitis C virus infection in candidates for liver transplant with cryptogenic cirrhosis. (24082889)
2013
4
Pulmonary arteriovenous malformation in cryptogenic liver cirrhosis. (24034200)
2013
5
Clinical remission after strict gluten-free diet in a patient with celiac disease, advanced cryptogenic cirrhosis and splenic atrophy. (23161318)
2012
6
Risk factors for nonalcoholic steatohepatitis in cryptogenic cirrhosis. (23329217)
2012
7
Synchronous cryptogenic liver cirrhosis and idiopathic pulmonary fibrosis: a clue to telomere involvement. (23045155)
2012
8
HFE Gene Mutations, Iron Overload and Cryptogenic Liver Cirrhosis. (22550530)
2012
9
Pulmonary Arteriovenous Malformation in Cryptogenic Liver Cirrhosis Associated with Turner's Syndrome. (20559532)
2010
10
Cryptogenic cirrhosis: or is it? An unusual case of portal hypertension. (20542869)
2010
11
Cryptogenic cirrhosis in a patient with familial hypocholesterolemia due to a new truncated form of apolipoprotein B. (19060634)
2009
12
Familial Mediterranean fever and cryptogenic cirrhosis. (18004180)
2007
13
MTHFR C677T homozygous as risk factor for complications after OLT for cryptogenic cirrhosis. (17100732)
2006
14
GSTP1, GSTM1, and GSTT1 genetic polymorphisms in patients with cryptogenic liver cirrhosis. (15120366)
2004
15
C282Y mutation and hepatic iron status in hepatitis C and cryptogenic cirrhosis. (11079015)
2000
16
Diploid-triploid and tetraploid mosaicism in a child with cryptogenic cirrhosis and membranous glomerulonephritis: a causal relationship or coincidental association? (9673542)
1998
17
Mutation of human keratin 18 in association with cryptogenic cirrhosis. (9011570)
1997

Genetic Variations for Cirrhosis, Cryptogenic

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Cirrhosis, Cryptogenic:

63
id Symbol AA change Variation SNP ID
1KRT18p.His128LeuVAR_003852rs57758506
2KRT18p.Thr103AlaVAR_023054rs61136606
3KRT18p.Arg261GlnVAR_023056
4KRT18p.Gly340ArgVAR_023057
5KRT8p.Gly53ValVAR_023058rs61710484
6KRT8p.Tyr54CysVAR_023059
7KRT8p.Gly62CysVAR_023060rs11554495

Expression for genes affiliated with Cirrhosis, Cryptogenic

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cirrhosis, Cryptogenic

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

Pathways for genes affiliated with Cirrhosis, Cryptogenic

Sources:
4Cell Signaling Technology, 38NCBI BioSystems Database, 12EMD Millipore
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Pathways related to Cirrhosis, Cryptogenic according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1KRT8, KRT18
29.1KRT8, KRT18
39.1KRT8, KRT18

Compounds for genes affiliated with Cirrhosis, Cryptogenic

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB
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Compounds related to Cirrhosis, Cryptogenic according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1griseofulvin45 1110.5KRT8, KRT18
2fitc459.5KRT8, KRT18
3diethyl dithiocarbamate459.5KRT18, KRT8
4hematoxylin459.5KRT8, KRT18
5n-acetylglucosamine459.5KRT8, KRT18
6urea45 11 2411.4KRT18, KRT8
7gold459.4KRT8, KRT18
8bromodeoxyuridine459.4KRT8, KRT18
9sucrose45 11 2411.4KRT18, KRT8
10agar459.4KRT8, KRT18
11retinoid459.4KRT8, KRT18
12matrigel459.4KRT18, KRT8
13butyrate459.4KRT8, KRT18
14ethanol45 50 11 2412.3KRT8, KRT18
15doxorubicin45 50 1111.3KRT18, KRT8
16glycogen45 2410.3KRT8, KRT18
17actinomycin d459.2KRT18, KRT8
18paraffin459.2KRT8, KRT18
19forskolin45 50 1111.1KRT8, KRT18
20creatinine459.1KRT8, KRT18
21iron45 2410.0KRT18, KRT8
22lactate458.8KRT8, KRT18

GO Terms for genes affiliated with Cirrhosis, Cryptogenic

Sources:
16Gene Ontology
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Cellular components related to Cirrhosis, Cryptogenic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:0058829.1KRT8, KRT18
2keratin filamentGO:0450958.8KRT8, KRT18

Biological processes related to Cirrhosis, Cryptogenic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1modulation by virus of host morphology or physiologyGO:0190489.1KRT8, KRT18
2tumor necrosis factor-mediated signaling pathwayGO:0332098.8KRT8, KRT18

Molecular functions related to Cirrhosis, Cryptogenic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.1KRT8, KRT18
2scaffold protein bindingGO:0971108.8KRT8, KRT18

Products for genes affiliated with Cirrhosis, Cryptogenic

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cirrhosis, Cryptogenic

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet