MCID: CRR007
MIFTS: 32

Cirrhosis, Cryptogenic malady

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

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MalaCards based summary: Cirrhosis, Cryptogenic, also known as non-wilsonian hepatic copper toxicosis of infancy and childhood, is related to cirrhosis, noncryptogenic and alcoholic hepatitis, and has symptoms including 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:46 215600

Aliases & Classifications for Cirrhosis, Cryptogenic

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

Cirrhosis, Cryptogenic, Aliases & Descriptions:

Name: Cirrhosis, Cryptogenic 46
Non-Wilsonian Hepatic Copper Toxicosis of Infancy and Childhood 48
 
Idiopathic Copper-Associated Cirrhosis 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Liver diseases
Orphanet: 48 
Rare hepatic diseases


Characteristics (Orphanet epidemiological data):

48
non-wilsonian hepatic copper toxicosis of infancy and childhood:
Age of onset: Childhood; Age of death: Child / adolescent


External Ids:

OMIM46 215600
ICD10 via Orphanet26 K74.6

Related Diseases for Cirrhosis, Cryptogenic

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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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Symptoms by clinical synopsis from OMIM:

215600

Clinical features from OMIM:

215600

HPO human phenotypes related to Cirrhosis, Cryptogenic:

(show all 6)
id Description Frequency HPO Source Accession
1 jaundice HP:0000952
2 lethargy HP:0001254
3 micronodular cirrhosis HP:0001413
4 fever HP:0001945
5 esophageal varix HP:0002040
6 abdominal distention HP:0003270

Drugs & Therapeutics for Cirrhosis, Cryptogenic

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Drug clinical trials:

Search ClinicalTrials for Cirrhosis, Cryptogenic

Search NIH Clinical Center for Cirrhosis, Cryptogenic

Genetic Tests for Cirrhosis, Cryptogenic

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Anatomical Context for Cirrhosis, Cryptogenic

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MalaCards organs/tissues related to Cirrhosis, Cryptogenic:

32
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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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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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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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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Compounds related to Cirrhosis, Cryptogenic according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1griseofulvin44 1110.5KRT18, KRT8
2fitc449.5KRT18, KRT8
3diethyl dithiocarbamate449.5KRT18, KRT8
4hematoxylin449.5KRT8, KRT18
5n-acetylglucosamine449.5KRT18, KRT8
6urea44 24 1111.5KRT18, KRT8
7gold449.5KRT18, KRT8
8bromodeoxyuridine449.5KRT8, KRT18
9sucrose44 24 1111.5KRT18, KRT8
10agar449.5KRT18, KRT8
11retinoid449.5KRT18, KRT8
12matrigel449.4KRT8, KRT18
13butyrate449.4KRT18, KRT8
14ethanol44 50 24 1112.4KRT18, KRT8
15doxorubicin44 50 1111.4KRT8, KRT18
16glycogen44 2410.4KRT18, KRT8
17actinomycin d449.4KRT18, KRT8
18paraffin449.4KRT18, KRT8
19forskolin44 50 1111.4KRT8, KRT18
20iron44 2410.3KRT18, KRT8
21lactate449.3KRT18, KRT8
22creatinine449.3KRT8, KRT18
23progesterone44 28 61 24 1113.2KRT18, KRT8
24testosterone44 61 24 1112.2KRT18, KRT8
25steroid449.1KRT8, KRT18
26threonine449.1KRT18, KRT8
27oligonucleotide449.0KRT18, KRT8
28vegf448.8KRT18, KRT8

GO Terms for genes affiliated with Cirrhosis, Cryptogenic

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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

Sources for Cirrhosis, Cryptogenic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet