MCID: CRR007
MIFTS: 31

Cirrhosis, Cryptogenic malady

Genetic diseases (common) category

Aliases & Classifications for Cirrhosis, Cryptogenic

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Cirrhosis, Cryptogenic, Aliases & Descriptions:

Name: Cirrhosis, Cryptogenic 45
Cirrhosis, Familial Cirrhosis, Familial, with Pulmonary Hypertension, Included 45
 
Cirrhosis, Noncryptogenic, Susceptibility to 10
Cirrhosis, Noncryptogenic 45


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 215600

Summaries for Cirrhosis, Cryptogenic

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MalaCards based summary: Cirrhosis, Cryptogenic, also known as cirrhosis, familial cirrhosis, familial, with pulmonary hypertension, included, is related to alcoholic hepatitis and chordoma, and has symptoms including jaundice, lethargy and micronodular cirrhosis. 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.

Description from OMIM:45 215600

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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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:

62
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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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 Suite gene sharing:

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 Suite gene sharing:

(show all 28)
idCompoundScoreTop Affiliating Genes
1griseofulvin43 1210.5KRT18, KRT8
2fitc439.5KRT18, KRT8
3diethyl dithiocarbamate439.5KRT18, KRT8
4hematoxylin439.5KRT8, KRT18
5n-acetylglucosamine439.5KRT18, KRT8
6urea43 24 1211.5KRT18, KRT8
7gold439.5KRT18, KRT8
8bromodeoxyuridine439.5KRT8, KRT18
9sucrose43 24 1211.5KRT18, KRT8
10agar439.5KRT18, KRT8
11retinoid439.5KRT18, KRT8
12matrigel439.4KRT8, KRT18
13butyrate439.4KRT18, KRT8
14ethanol43 49 24 1212.4KRT18, KRT8
15doxorubicin43 49 1211.4KRT8, KRT18
16glycogen43 2410.4KRT18, KRT8
17actinomycin d439.4KRT18, KRT8
18paraffin439.4KRT18, KRT8
19forskolin43 49 1211.4KRT8, KRT18
20iron43 2410.3KRT18, KRT8
21lactate439.3KRT18, KRT8
22creatinine439.3KRT8, KRT18
23progesterone43 28 59 24 1213.2KRT18, KRT8
24testosterone43 59 24 1212.2KRT18, KRT8
25steroid439.1KRT8, KRT18
26threonine439.1KRT18, KRT8
27oligonucleotide439.0KRT18, KRT8
28vegf438.8KRT18, KRT8

GO Terms for genes affiliated with Cirrhosis, Cryptogenic

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Cellular components related to Cirrhosis, Cryptogenic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00058829.1KRT18, KRT8
2keratin filamentGO:00450958.8KRT18, KRT8

Biological processes related to Cirrhosis, Cryptogenic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hepatocyte apoptotic processGO:00972849.1KRT18, KRT8
2viral processGO:00160329.1KRT18, KRT8
3tumor necrosis factor-mediated signaling pathwayGO:00332099.0KRT18, KRT8
4extrinsic apoptotic signaling pathwayGO:00971918.8KRT18, KRT8

Molecular functions related to Cirrhosis, Cryptogenic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051989.1KRT18, KRT8
2scaffold protein bindingGO:00971108.8KRT18, KRT8

Products for genes affiliated with Cirrhosis, Cryptogenic

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cirrhosis, Cryptogenic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet