MCID: CRR007
MIFTS: 43

Cirrhosis, Cryptogenic

Categories: Genetic diseases, Liver diseases, Rare diseases

Aliases & Classifications for Cirrhosis, Cryptogenic

MalaCards integrated aliases for Cirrhosis, Cryptogenic:

Name: Cirrhosis, Cryptogenic 54 25 29 13 69
Cirrhosis, Noncryptogenic, Susceptibility to 29 13
Cryptogenic Cirrhosis 25 71
Cirrhosis 71 69
Non-Wilsonian Hepatic Copper Toxicosis of Infancy and Childhood 56
Idiopathic Copper-Associated Cirrhosis 56
Cirrhosis, Noncryptogenic 54
Liver Cirrhosis 69
Cirrh 71

Characteristics:

Orphanet epidemiological data:

56
idiopathic copper-associated cirrhosis
Age of onset: Childhood; Age of death: adolescent,late childhood;

OMIM:

54
Inheritance:
autosomal recessive cases, probably heterogeneous


Classifications:

Orphanet: 56  
Rare hepatic diseases


Summaries for Cirrhosis, Cryptogenic

UniProtKB/Swiss-Prot : 71 Cirrhosis: A liver disease characterized by severe panlobular liver-cell swelling with Mallory body formation, prominent pericellular fibrosis, and marked deposits of copper. Clinical features include abdomen swelling, jaundice and pulmonary hypertension.

MalaCards based summary : Cirrhosis, Cryptogenic, also known as cirrhosis, noncryptogenic, susceptibility to, is related to primary biliary cirrhosis and liver cirrhosis, and has symptoms including jaundice, lethargy and fever. An important gene associated with Cirrhosis, Cryptogenic is KRT8 (Keratin 8), and among its related pathways/superpathways are Cytoskeletal Signaling and Keratinization. The drugs Liver Extracts and Dipeptidyl-Peptidase IV Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include liver, and related phenotype is Decreased shRNA abundance (Z-score < -2).

Genetics Home Reference : 25 Cryptogenic cirrhosis is a condition that impairs liver function. People with this condition develop irreversible liver disease caused by scarring of the liver (cirrhosis), typically in mid- to late adulthood.

Description from OMIM: 215600

Related Diseases for Cirrhosis, Cryptogenic

Diseases related to Cirrhosis, Cryptogenic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 552)
id Related Disease Score Top Affiliating Genes
1 primary biliary cirrhosis 12.3
2 liver cirrhosis 12.3
3 north american indian childhood cirrhosis 12.3
4 alcoholic liver cirrhosis 12.2
5 biliary cirrhosis, primary, 2 12.0
6 biliary cirrhosis, primary, 4 12.0
7 biliary cirrhosis, primary, 5 12.0
8 biliary cirrhosis, primary, 3 12.0
9 biliary cirrhosis, primary, 1 12.0
10 reynolds syndrome 11.8
11 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification 11.8
12 primary biliary cholangitis 11.7
13 hypermanganesemia with dystonia 1 11.6
14 hemochromatosis 11.6
15 mitochondrial dna depletion syndrome 4a 11.4
16 hepatocellular carcinoma 11.4
17 glycogen storage disease iv 11.3
18 emphysema due to aat deficiency 11.3
19 fatty liver disease 11.3
20 hepatitis 11.3
21 hepatitis c 11.2
22 hepatitis b 11.2
23 hepatorenal syndrome 11.1
24 portal hypertension 11.1
25 hepatic encephalopathy 11.0
26 hepatitis c virus 11.0
27 autoimmune hepatitis 11.0
28 wilson disease 11.0
29 liver disease 11.0
30 alcoholic hepatitis 11.0
31 nonalcoholic steatohepatitis 10.9
32 cystic fibrosis 10.9
33 gastric antral vascular ectasia 10.9
34 alcohol abuse 10.9
35 budd-chiari syndrome 10.9
36 alpha 1-antitrypsin deficiency 10.9
37 pulmonary arteriovenous malformation 10.9
38 tyrosinemia, type i 10.9
39 secondary sclerosing cholangitis 10.9
40 cholesterol ester storage disease 10.9
41 hypobetalipoproteinemia 10.9
42 congenital dyserythropoietic anemia 10.9
43 dysfibrinogenemia 10.9
44 cholangitis, primary sclerosing 10.8
45 wolman disease 10.8
46 cholestasis, progressive familial intrahepatic 1 10.8
47 glycogen storage disease ixc 10.7
48 bile acid synthesis defect, congenital, 1 10.7
49 fatty liver disease, nonalcoholic 1 10.7
50 hemochromatosis, type 2a 10.7

Graphical network of the top 20 diseases related to Cirrhosis, Cryptogenic:



Diseases related to Cirrhosis, Cryptogenic

Symptoms & Phenotypes for Cirrhosis, Cryptogenic

Symptoms via clinical synopsis from OMIM:

54

Skin:
jaundice

Misc:
fever

Abdomen:
swelling

Lab:
liver histopathology shows severe panlobular liver-cell swelling with mallory body formation, prominent pericellular fibrosis, 'micro-micronodular' cirrhosis, and marked deposits of copper and copper-binding protein
hepatic copper increased

Neuro:
lethargy

GI:
esophageal varices
congenital cirrhosis
childhood cirrhosis

Vascular:
'primary' pulmonary hypertension


Clinical features from OMIM:

215600

Human phenotypes related to Cirrhosis, Cryptogenic:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 jaundice 32 HP:0000952
2 lethargy 32 HP:0001254
3 fever 32 HP:0001945
4 abdominal distention 32 HP:0003270
5 micronodular cirrhosis 32 HP:0001413
6 pulmonary arterial hypertension 32 HP:0002092
7 esophageal varix 32 HP:0002040

UMLS symptoms related to Cirrhosis, Cryptogenic:


abdominal pain, constipation, diarrhea, dyspepsia, heartburn, hepatosplenomegaly, icterus, nausea and vomiting, gastrointestinal gas

GenomeRNAi Phenotypes related to Cirrhosis, Cryptogenic according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-154 9.23 KRT18
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.23 KRT18
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.23 KRT8
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.23 KRT18
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.23 KRT8
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.23 KRT18 KRT8
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.23 KRT18

Drugs & Therapeutics for Cirrhosis, Cryptogenic

Drugs for Cirrhosis, Cryptogenic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 2, Phase 3
2 Dipeptidyl-Peptidase IV Inhibitors Phase 2
3 HIV Protease Inhibitors Phase 2
4 Hormone Antagonists Phase 2
5 Hormones Phase 2
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
7 Hypoglycemic Agents Phase 2
8 Incretins Phase 2
9
protease inhibitors Phase 2
10 Sitagliptin Phosphate Phase 2
11
Pentoxifylline Approved, Investigational 6493-05-6 4740
12
Metformin Approved 657-24-9 14219 4091
13
Zinc Approved 7440-66-6 32051 23994
14
Dalteparin Approved 9005-49-6
15
Heparin Approved, Investigational 9005-49-6 772 46507594
16 Nadroparin Approved 9041-08-1
17 Antioxidants
18 Phosphodiesterase Inhibitors
19 Platelet Aggregation Inhibitors
20 Protective Agents
21 Radiation-Protective Agents
22 Vasodilator Agents
23 insulin
24 Insulin, Globin Zinc
25 Antibodies
26 Immunoglobulins
27 Anticoagulants
28 calcium heparin
29 Calcium, Dietary
30 Fibrinolytic Agents
31 Heparin, Low-Molecular-Weight
32 methionine Nutraceutical

Interventional clinical trials:

(show all 14)

id Name Status NCT ID Phase Drugs
1 SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfa Active, not recruiting NCT01371825 Phase 2, Phase 3 Sebelipase alfa (SBC-102)
2 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3 SBC-102
3 Sitagliptin Versus Placebo in the Treatment of Non-alcoholic Fatty Liver Disease Completed NCT01963845 Phase 2 Sitagliptin;Placebo
4 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2 sebelipase alfa
5 Measurement of Fibrinogen in Patients With Systemic Inflammatory Response Syndrome (SIRS), Sepsis or Chronicle Liver Disease on Intensive Care Units (ICU) Unknown status NCT01169168
6 The Efficacy of S-adenosyl Methionine (SAMe) Versus Pentoxiphylline in Patients With Non-alcoholic Steatohepatitis With Fibrosis Unknown status NCT02231333 S-adenosylmethionine (SAMe);pentoxiphylline (PTX)
7 Non Alcoholic Fatty Liver Disease (NAFLD) in Hong Kong Unknown status NCT00577044
8 Effect of Metformin on Disease Progression in Patients With Cryptogenic Cirrhosis (NASH-related Cirrhosis) With Diabetes or Impaired Glucose Tolerance or Insulin Resistance Completed NCT02234440 Metformin;Insulin
9 Genetic Studies of Non-Alcoholic Fatty Liver Disease Completed NCT01629095
10 Bartonella in Liver Transplant Patients Recruiting NCT02595710
11 Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients Recruiting NCT02851550
12 Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant. Recruiting NCT02852304
13 National Lysosomal Acid Lipase Deficiency Study Recruiting NCT02372513
14 Anticoagulation for Advanced Cirrhotic Patients After TIPS Recruiting NCT03005444 Low molecular weight Heparin

Search NIH Clinical Center for Cirrhosis, Cryptogenic

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Cirrhosis, Cryptogenic

Genetic tests related to Cirrhosis, Cryptogenic:

id Genetic test Affiliating Genes
1 Cirrhosis, Cryptogenic 29
2 Cirrhosis, Noncryptogenic, Susceptibility to 29

Anatomical Context for Cirrhosis, Cryptogenic

MalaCards organs/tissues related to Cirrhosis, Cryptogenic:

39
Liver

Publications for Cirrhosis, Cryptogenic

Variations for Cirrhosis, Cryptogenic

UniProtKB/Swiss-Prot genetic disease variations for Cirrhosis, Cryptogenic:

71
id Symbol AA change Variation ID SNP ID
1 KRT18 p.His128Leu VAR_003852 rs57758506
2 KRT18 p.Thr103Ala VAR_023054 rs61136606
3 KRT18 p.Arg261Gln VAR_023056 rs57354642
4 KRT18 p.Gly340Arg VAR_023057 rs57370769
5 KRT8 p.Gly53Val VAR_023058 rs61710484
6 KRT8 p.Tyr54Cys VAR_023059
7 KRT8 p.Gly62Cys VAR_023060 rs11554495

ClinVar genetic disease variations for Cirrhosis, Cryptogenic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT18 NM_000224.2(KRT18): c.383A> T (p.His128Leu) single nucleotide variant Pathogenic,risk factor rs57758506 GRCh37 Chromosome 12, 53343340: 53343340
2 KRT8 NM_002273.3(KRT8): c.184G> T (p.Gly62Cys) single nucleotide variant Pathogenic,risk factor rs11554495 GRCh37 Chromosome 12, 53298582: 53298582
3 KRT8 NM_002273.3(KRT8): c.160T> C (p.Tyr54His) single nucleotide variant Pathogenic rs57749775 GRCh37 Chromosome 12, 53298606: 53298606

Expression for Cirrhosis, Cryptogenic

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

Pathways for Cirrhosis, Cryptogenic

Pathways related to Cirrhosis, Cryptogenic according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.64 KRT18 KRT8
2
Show member pathways
11.41 KRT18 KRT8
3
Show member pathways
10.66 KRT18 KRT8

GO Terms for Cirrhosis, Cryptogenic

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

id Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.16 KRT18 KRT8
2 keratin filament GO:0045095 8.96 KRT18 KRT8
3 cell periphery GO:0071944 8.62 KRT18 KRT8

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

id Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.37 KRT18 KRT8
2 keratinization GO:0031424 9.32 KRT18 KRT8
3 tumor necrosis factor-mediated signaling pathway GO:0033209 9.26 KRT18 KRT8
4 cornification GO:0070268 9.16 KRT18 KRT8
5 extrinsic apoptotic signaling pathway GO:0097191 8.96 KRT18 KRT8
6 hepatocyte apoptotic process GO:0097284 8.62 KRT18 KRT8

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

id Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.96 KRT18 KRT8
2 scaffold protein binding GO:0097110 8.62 KRT18 KRT8

Sources for Cirrhosis, Cryptogenic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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