CIRRH
MCID: CRR007
MIFTS: 43

Cirrhosis, Cryptogenic (CIRRH) malady

Categories: Genetic diseases, Liver diseases, Rare diseases

Aliases & Classifications for Cirrhosis, Cryptogenic

Aliases & Descriptions for Cirrhosis, Cryptogenic:

Name: Cirrhosis, Cryptogenic 54 25 13 69
Cryptogenic Cirrhosis 25 66 29
Cirrhosis, Noncryptogenic 54 29
Cirrhosis 66 69
Cirrhosis, Familial Cirrhosis, Familial, with Pulmonary Hypertension, Included 54
Non-Wilsonian Hepatic Copper Toxicosis of Infancy and Childhood 56
Cirrhosis, Noncryptogenic, Susceptibility to 13
Idiopathic Copper-Associated Cirrhosis 56
Liver Cirrhosis 69
Cirrh 66

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 56  
Rare hepatic diseases


External Ids:

OMIM 54 215600
Orphanet 56 ORPHA209919
ICD10 via Orphanet 34 K74.6

Summaries for Cirrhosis, Cryptogenic

UniProtKB/Swiss-Prot : 66 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 cryptogenic cirrhosis, is related to primary biliary cirrhosis and liver cirrhosis, and has symptoms including fever, lethargy and jaundice. An important gene associated with Cirrhosis, Cryptogenic is KRT18 (Keratin 18), and among its related pathways/superpathways are Cytoskeletal Signaling and Keratinization. The drugs Liver Extracts and protease 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 543)
id Related Disease Score Top Affiliating Genes
1 primary biliary cirrhosis 12.4
2 liver cirrhosis 12.4
3 cirrhosis, north american indian childhood type 12.3
4 hypermanganesemia with dystonia, polycythemia, and cirrhosis 12.2
5 alcoholic liver cirrhosis 12.2
6 biliary cirrhosis, primary, 1 12.0
7 biliary cirrhosis, primary, 4 12.0
8 biliary cirrhosis, primary, 3 12.0
9 biliary cirrhosis, primary, 2 12.0
10 biliary cirrhosis, primary, 5 12.0
11 reynolds syndrome 11.8
12 primary biliary cholangitis 11.8
13 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification 11.8
14 hemochromatosis 11.6
15 mitochondrial dna depletion syndrome 4a 11.4
16 hepatocellular carcinoma 11.4
17 emphysema due to aat deficiency 11.4
18 glycogen storage disease iv 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 nodular regenerative hyperplasia 10.9
33 cystic fibrosis 10.9
34 alcohol abuse 10.9
35 gastric antral vascular ectasia 10.9
36 budd-chiari syndrome 10.9
37 tyrosinemia, type i 10.9
38 pulmonary arteriovenous malformation 10.9
39 congenital dyserythropoietic anemia 10.9
40 hypobetalipoproteinemia 10.9
41 cholesterol ester storage disease 10.9
42 dysfibrinogenemia 10.9
43 cholangitis, primary sclerosing 10.9
44 cholestasis, progressive familial intrahepatic 1 10.8
45 wolman disease 10.8
46 scalp-ear-nipple syndrome 10.7
47 cholestasis-lymphedema syndrome 10.7
48 fatty liver disease, nonalcoholic 1 10.7
49 glycogen storage disease ixc 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 by clinical synopsis from OMIM:

215600

Clinical features from OMIM:

215600

Human phenotypes related to Cirrhosis, Cryptogenic:

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

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 KRT8 KRT18
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 33)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 2, Phase 3
2
protease inhibitors Phase 2
3 Sitagliptin Phosphate Phase 2
4 HIV Protease Inhibitors Phase 2
5 Hormone Antagonists Phase 2
6 Dipeptidyl-Peptidase IV Inhibitors Phase 2
7 Hormones Phase 2
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
9 Hypoglycemic Agents Phase 2
10 Incretins Phase 2
11
Pentoxifylline Approved, Investigational 6493-05-6 4740
12
Zinc Approved 7440-66-6 32051 23994
13
Metformin Approved 657-24-9 14219 4091
14
Ethanol Approved 64-17-5 702
15
Heparin Approved, Investigational 9005-49-6 772 46507594
16 Nadroparin Approved 9041-08-1
17
Dalteparin Approved 9041-08-1
18 Vasodilator Agents
19 Phosphodiesterase Inhibitors
20 Platelet Aggregation Inhibitors
21 Protective Agents
22 Radiation-Protective Agents
23 Antioxidants
24 insulin
25 Insulin, Globin Zinc
26 Immunoglobulins
27 Antibodies
28 calcium heparin
29 Heparin, Low-Molecular-Weight
30 Fibrinolytic Agents
31 Anticoagulants
32 Calcium, Dietary
33 methionine Nutraceutical

Interventional clinical trials:

(show all 18)
id Name Status NCT ID Phase
1 SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfa Active, not recruiting NCT01371825 Phase 2, Phase 3
2 Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3
3 Sitagliptin Versus Placebo in the Treatment of Non-alcoholic Fatty Liver Disease Completed NCT01963845 Phase 2
4 Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency Active, not recruiting NCT02193867 Phase 2
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
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
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 Utility of EUS-elastography to Predict Portal Hypertension Recruiting NCT03155282
15 Natural History of Noncirrhotic Portal Hypertension Recruiting NCT02417740
16 Clinical Course of Interstitial Lung Diseases: European IPF Registry and Biobank Recruiting NCT02951416
17 Be the Bridge Between Researchers and a Cure (GVHD, ALS, Hepatitis B, Alzheimer's Disease, Leukemia, and More) Recruiting NCT01931644
18 Anticoagulation for Advanced Cirrhotic Patients After TIPS Not yet recruiting NCT03005444

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, Noncryptogenic, Susceptibility to 29
2 Cirrhosis, Cryptogenic 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:

66
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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