MCID: CRR007
MIFTS: 31

Cirrhosis, Cryptogenic malady

Genetic diseases, Liver diseases, Rare diseases categories
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Summaries for Cirrhosis, Cryptogenic

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47OMIM, 33MalaCards
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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:47 215600

Aliases & Classifications for Cirrhosis, Cryptogenic

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

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Liver diseases
Orphanet: 49 
Rare hepatic diseases


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

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17GeneCards, 18GeneDecks
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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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47OMIM
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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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42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Cirrhosis, Cryptogenic:

33
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:
64UniProtKB/Swiss-Prot, 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Cirrhosis, Cryptogenic:

64
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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2BioGPS, 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

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Sources:
50PathCards, 5Cell Signaling Technology, 38NCBI BioSystems Database, 60Thomson 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:
45Novoseek, 11DrugBank, 24HMDB, 51PharmGKB, 29IUPHAR, 61Tocris Bioscience
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Compounds related to Cirrhosis, Cryptogenic according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1griseofulvin45 1110.5KRT18, KRT8
2fitc459.5KRT18, KRT8
3diethyl dithiocarbamate459.5KRT18, KRT8
4hematoxylin459.5KRT8, KRT18
5n-acetylglucosamine459.5KRT18, KRT8
6urea45 24 1111.5KRT18, KRT8
7gold459.5KRT18, KRT8
8bromodeoxyuridine459.5KRT8, KRT18
9sucrose45 24 1111.5KRT18, KRT8
10agar459.5KRT18, KRT8
11retinoid459.5KRT18, KRT8
12matrigel459.4KRT8, KRT18
13butyrate459.4KRT18, KRT8
14ethanol45 51 24 1112.4KRT18, KRT8
15doxorubicin45 51 1111.4KRT8, KRT18
16glycogen45 2410.4KRT18, KRT8
17actinomycin d459.4KRT18, KRT8
18paraffin459.4KRT18, KRT8
19forskolin45 51 1111.4KRT8, KRT18
20iron45 2410.3KRT18, KRT8
21lactate459.3KRT18, KRT8
22creatinine459.3KRT8, KRT18
23progesterone45 29 61 24 1113.2KRT18, KRT8
24testosterone45 61 24 1112.2KRT18, KRT8
25steroid459.1KRT8, KRT18
26threonine459.1KRT18, KRT8
27oligonucleotide459.0KRT18, KRT8
28vegf458.8KRT18, KRT8

GO Terms for genes affiliated with Cirrhosis, Cryptogenic

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16Gene 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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet