MCID: CRR007
MIFTS: 31

Cirrhosis, Cryptogenic malady

Genetic diseases, Liver diseases, Rare diseases categories

Summaries for Cirrhosis, Cryptogenic

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48OMIM, 34MalaCards
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MalaCards: Cirrhosis, Cryptogenic, also known as non-wilsonian hepatic copper toxicosis of infancy and childhood, is related to cirrhosis, noncryptogenic and alcoholic hepatitis. An important gene associated with Cirrhosis, Cryptogenic is KRT18 (keratin 18), 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:48 215600

Aliases & Classifications for Cirrhosis, Cryptogenic

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Sources:
48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Liver diseases
Orphanet: 50 
Rare hepatic diseases


Characteristics (Orphanet epidemiological data):

50
non-wilsonian hepatic copper toxicosis of infancy and childhood:
Age of onset: Childhood; Age of death: Child / adolescent


Aliases & Descriptions:

cirrhosis, cryptogenic 48
non-wilsonian hepatic copper toxicosis of infancy and childhood 50
idiopathic copper-associated cirrhosis 50


External Ids:

OMIM48 215600
ICD10 via Orphanet27 K74.6

Related Diseases for Cirrhosis, Cryptogenic

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Cirrhosis, Cryptogenic:



Diseases related to cirrhosis, cryptogenic

Symptoms for Cirrhosis, Cryptogenic

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48OMIM
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Symptoms by clinical synopsis from OMIM:

215600

Clinical features from OMIM:

215600

Drugs & Therapeutics for Cirrhosis, Cryptogenic

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Cirrhosis, Cryptogenic

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Anatomical Context for Cirrhosis, Cryptogenic

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34MalaCards
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MalaCards organs/tissues related to Cirrhosis, Cryptogenic:

34
Liver

Animal Models for Cirrhosis, Cryptogenic or affiliated genes

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Publications for Cirrhosis, Cryptogenic

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Variations for Cirrhosis, Cryptogenic

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Sources:
65UniProtKB/Swiss-Prot, 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Cirrhosis, Cryptogenic:

65
id Symbol AA change Variation ID 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

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Sources:
2BioGPS, 16Gene 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

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Sources:
51PathCards, 5Cell Signaling Technology, 39NCBI BioSystems Database, 61Thomson Reuters
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Pathways related to Cirrhosis, Cryptogenic according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Cirrhosis, Cryptogenic

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Sources:
46Novoseek, 12DrugBank, 25HMDB, 52PharmGKB, 30IUPHAR, 62Tocris Bioscience
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Compounds related to Cirrhosis, Cryptogenic according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1griseofulvin46 1210.5KRT18, KRT8
2fitc469.5KRT18, KRT8
3diethyl dithiocarbamate469.5KRT18, KRT8
4hematoxylin469.5KRT8, KRT18
5n-acetylglucosamine469.5KRT18, KRT8
6urea46 25 1211.5KRT18, KRT8
7gold469.5KRT18, KRT8
8bromodeoxyuridine469.5KRT8, KRT18
9sucrose46 25 1211.5KRT18, KRT8
10agar469.5KRT18, KRT8
11retinoid469.5KRT18, KRT8
12matrigel469.4KRT8, KRT18
13butyrate469.4KRT18, KRT8
14ethanol46 52 25 1212.4KRT18, KRT8
15doxorubicin46 52 1211.4KRT8, KRT18
16glycogen46 2510.4KRT18, KRT8
17actinomycin d469.4KRT18, KRT8
18paraffin469.4KRT18, KRT8
19forskolin46 52 1211.4KRT8, KRT18
20iron46 2510.3KRT18, KRT8
21lactate469.3KRT18, KRT8
22creatinine469.3KRT8, KRT18
23progesterone46 30 62 25 1213.2KRT18, KRT8
24testosterone46 62 25 1212.2KRT18, KRT8
25steroid469.1KRT8, KRT18
26threonine469.1KRT18, KRT8
27oligonucleotide469.0KRT18, KRT8
28vegf468.8KRT18, KRT8

GO Terms for genes affiliated with Cirrhosis, Cryptogenic

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Sources:
17Gene Ontology
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Cellular components related to Cirrhosis, Cryptogenic according to GeneCards/GeneDecks:

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

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

idNameGO IDScoreTop Affiliating Genes
1hepatocyte apoptotic processGO:0972849.1KRT18, KRT8
2viral processGO:0160329.1KRT18, KRT8
3tumor necrosis factor-mediated signaling pathwayGO:0332099.0KRT18, KRT8
4extrinsic apoptotic signaling pathwayGO:0971918.8KRT18, KRT8

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

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

Products for genes affiliated with Cirrhosis, Cryptogenic

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cirrhosis, Cryptogenic

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet