MCID: CRR007
MIFTS: 43

Cirrhosis, Cryptogenic malady

Categories: Genetic diseases (common), Liver diseases

Aliases & Classifications for Cirrhosis, Cryptogenic

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Aliases & Descriptions for Cirrhosis, Cryptogenic:

Name: Cirrhosis, Cryptogenic 49 11 23 65
Cryptogenic Cirrhosis 23 67
Cirrhosis 67 65
Cirrhosis, Noncryptogenic, Susceptibility to 11
 
Cirrhosis, Noncryptogenic 49
Liver Cirrhosis 65
Cirrh 67

Classifications:



External Ids:

OMIM49 215600
UMLS65 C0267809, C1623038

Summaries for Cirrhosis, Cryptogenic

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UniProtKB/Swiss-Prot:67 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 abdominal distention, pulmonary hypertension and esophageal varix. An important gene associated with Cirrhosis, Cryptogenic is KRT8 (Keratin 8), and among its related pathways are EGFR1 Signaling Pathway and Cytoskeleton remodeling Neurofilaments. The drugs bumetanide and ethacrynate sodium have been mentioned in the context of this disorder. Affiliated tissues include liver, thyroid and breast, and related mouse phenotype liver/biliary system.

Genetics Home Reference:23 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:49 215600

Related Diseases for Cirrhosis, Cryptogenic

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

(show top 50)    (show all 534)
idRelated DiseaseScoreTop Affiliating Genes
1primary biliary cirrhosis12.5
2liver cirrhosis12.4
3alcoholic liver cirrhosis12.3
4hypermanganesemia with dystonia, polycythemia, and cirrhosis12.3
5cirrhosis, north american indian childhood type12.1
6biliary cirrhosis, primary, 112.0
7biliary cirrhosis, primary, 312.0
8biliary cirrhosis, primary, 212.0
9biliary cirrhosis, primary, 412.0
10biliary cirrhosis, primary, 512.0
11pigmentary cirrhosis12.0
12hereditary north american indian childhood cirrhosis11.9
13idiopathic copper-associated cirrhosis11.9
14berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification11.9
15hemochromatosis11.6
16reynolds syndrome11.6
17mitochondrial dna depletion syndrome 4a11.4
18hepatitis11.2
19glycogen storage disease iv11.2
20emphysema due to aat deficiency11.2
21hepatocellular carcinoma11.0
22hepatitis c10.9
23portal hypertension10.9
24hepatitis b10.8
25scalp-ear-nipple syndrome10.8
26hepatitis c virus10.8
27hepatic encephalopathy10.8
28autoimmune hepatitis10.7
29hepatorenal syndrome10.7
30alcoholic hepatitis10.6
31nonalcoholic steatohepatitis10.5
32encephalopathy10.4
33cystic fibrosis10.4
34hepatoportal sclerosis10.3
35alcohol abuse10.3
36gastric antral vascular ectasia10.3
37portal vein thrombosis10.3
38liver disease10.3
39alpha 1-antitrypsin deficiency10.3
40peritonitis10.3
41budd-chiari syndrome10.3
42wilson disease10.2
43hypersplenism10.2
44cholangitis10.2
45esophagitis10.2
46hypobetalipoproteinemia10.2
47sclerosing cholangitis10.2
48viral hepatitis10.1
49hepatopulmonary syndrome10.1
50pancreatitis10.1

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

UMLS symptoms related to Cirrhosis, Cryptogenic:


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

Drugs & Therapeutics for Cirrhosis, Cryptogenic

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

(show all 23)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Liver ExtractsPhase 2, Phase 33572
2Hypoglycemic AgentsPhase 24503
3IncretinsPhase 21326
4Sitagliptin PhosphatePhase 2399
5Protease InhibitorsPhase 24558
6Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 29988
7Dipeptidyl-Peptidase IV InhibitorsPhase 2779
8HIV Protease InhibitorsPhase 24558
9Hormone AntagonistsPhase 210002
10HormonesPhase 211748
11
Metforminapproved1645657-24-9, 1115-70-414219, 4091
Synonyms:
1,1-Dimethyl biguanide
1,1-Dimethylbiguanide
3-(diaminomethylidene)-1,1-dimethylguanidine
657-24-9
AC1L1HE4
AKOS000121065
Apo-Metformin
BIDD:GT0697
BPBio1_000009
BRD-K79602928-003-04-1
BSPBio_000007
BSPBio_002314
C07151
C4H11N5
CAS-1115-70-4
CCRIS 9321
CHEBI:6801
CHEMBL1431
CID4091
D04966
DB00331
DMBG
DMGG
Diabefagos
Diabetosan
Diabex
Diaformin
Dianben
Dimethylbiguanid
Dimethylbiguanide
Dimethylbiguanidine
Dimethyldiguanide
Dimethylguanylguanidine
EINECS 211-517-8
Fluamine
Flumamine
Fortamet
Gen-Metformin
Glifage
Gliguanid
Glucophage
Glucophage XR
Glumetza
Glycon
HMS2089D19
HSCI1_000295
Haurymelin
Haurymellin
Islotin
KBio2_002310
KBio2_004878
KBio2_007446
KBio3_002790
KBioGR_002310
 
KBioSS_002312
LA-6023
LS-43899
Meguan
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin Hydrochloride
Metformin [USAN:INN:BAN]
Metformina
Metformina [DCIT]
Metformina [Spanish]
Metformine
Metformine [INN-French]
Metformine pamoate
Metforminum
Metforminum [INN-Latin]
Metiguanide
MolPort-002-929-560
MolPort-004-288-389
MolPort-005-767-418
Mylan-Metformin
N,N-Dimethylbiguanide
N,N-Dimethyldiguanide
N,N-Dimethylimidodicarbonimidic diamide
N,N-dimethylimidodicarbonimidic diamide
N1,N1-Dimethylbiguanide
NCGC00016564-01
NCGC00016564-02
NCGC00016564-03
NNDG
Novo-Metformin
Nu-Metformin
Obimet
PMS-Metformin
Prestwick0_000004
Prestwick1_000004
Prestwick2_000004
Prestwick3_000004
Ran-Metformin
Ratio-Metformin
Riomet
S2483_Selleck
SPBio_001928
STK011633
Sandoz Metformin
Siofor
T5895664
Teva-Metformin
UNII-9100L32L2N
ZINC12859773
cMAP_000016
metformin
metformin hydrochloride
12
Pentoxifyllineapproved, investigational906493-05-64740
Synonyms:
1,2,3,6-Tetrahydro-3,7-dimethyl-1-(5-oxohexyl)-2,6-purindion
1-(5-Oxohexyl)-3,7-dimethylxanthine
1-(5-Oxohexyl)theobromine
2a3c
3,7-Dihydro-3,7-dimethyl-1-(5-oxohexyl)-1H-purine-2,6-dione
3,7-Dimethyl-1-(5-oxo-hexyl)-3,7-dihydro-purine-2,6-dione
3,7-Dimethyl-1-(5-oxohexyl) xantine
3,7-Dimethyl-1-(5-oxohexyl)-1H,3H-purin-2,6-dione
3,7-Dimethyl-1-(5-oxohexyl)-3,7-dihydro-1H-purine-2,6-dione
3,7-Dimethyl-1-(5-oxohexyl)xanthine
3,7-Dimethyl-1-(5-oxohexyl)xantine
3,7-dimethyl-1-(5-oxohexyl)purine-2,6-dione
5-26-14-00081 (Beilstein Handbook Reference)
6493-05-6
AB00052363
AC1L1IUN
AKOS000541484
Agapurin
Agapurin Retard
Azupentat
BAS 00897429
BB_SC-2111
BIDD:GT0174
BL 191
BL-191
BL191
BPBio1_000167
BRD-K57569181-001-05-1
BRN 0558929
BSPBio_000151
BSPBio_003439
C07424
C13H18N4O3
CAS-1677687
CCRIS 6832
CHEMBL628
CID4740
CPD000035998
D00501
D010431
DB00806
Dimethyloxohexylxanthine
DivK1c_000729
Durapental
EHT 0201
EHT-0201
EHT-201
EHT0201
EINECS 229-374-5
EU-0100936
HMS1568H13
HMS1922E16
HMS2051N06
HMS2090H13
HMS2093G21
HMS502E11
Hemovas
I06-1592
IDI1_000729
IN1161
Ikomio
KBio1_000729
KBio2_001924
KBio2_004492
KBio2_007060
KBio3_002942
KBioGR_000893
KBioSS_001924
LS-149385
 
Lopac-P-1784
Lopac0_000936
MLS000079026
MLS000758298
MLS001201764
MolPort-001-823-263
NCGC00015801-01
NCGC00015801-02
NCGC00015801-04
NCGC00015801-10
NCGC00067069-02
NCGC00067069-03
NCGC00067069-04
NCGC00067069-05
NCGC00178062-01
NCGC00178062-02
NINDS_000729
NSC 637086
NSC637086
Oxpentifylline
P 1784
PDSP1_001015
PDSP2_000999
PENTOXYPHYLINE
PNX
Pentoxifilina
Pentoxifilina [INN-Spanish]
Pentoxifyllin
Pentoxifylline
Pentoxifylline (JAN/USP/INN)
Pentoxifylline [USAN:INN:JAN]
Pentoxifyllinum
Pentoxifyllinum [INN-Latin]
Pentoxil
Pentoxil (TN)
Pentoxiphyllin
Pentoxiphylline
Pentoxiphyllium
Pentoxyfylline
Pentoxyphyllin
Pentoxyphylline
Prestwick0_000196
Prestwick1_000196
Prestwick2_000196
Prestwick3_000196
Prestwick_608
Px
Ralofect
Rentylin
SAM001247011
SMR000035998
SPBio_001221
SPBio_002072
SPECTRUM1503611
SR-01000075641-4
STK177321
Spectrum2_001181
Spectrum3_001820
Spectrum4_000227
Spectrum5_001161
Spectrum_001444
Torental
Trental
Trental (TN)
UNII-SD6QCT3TSU
Vasofirin
Vazofirin
ZINC01530776
cis-9-Octadecenoyl coenzyme A
pentoxifylline
13Insulin, Globin Zinc4278
14insulin4278
15Protective Agents5651
16Radiation-Protective Agents333
17Vasodilator Agents2926
18Platelet Aggregation Inhibitors1935
19Phosphodiesterase Inhibitors1062
20Antioxidants2442
21Antibodies4477
22Immunoglobulins4477
23methionineNutraceutical73

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1Trial in Children With Growth Failure Due to Early Onset Lysosomal Acid Lipase (LAL) Deficiency/Wolman DiseaseActive, not recruitingNCT01371825Phase 2, Phase 3
2Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102TerminatedNCT01473875Phase 2, Phase 3
3Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase DeficiencyRecruitingNCT02193867Phase 2
4Sitagliptin Versus Placebo in the Treatment of Non-alcoholic Fatty Liver DiseaseNot yet recruitingNCT01963845Phase 2
5Effect of Metformin on Disease Progression in Patients With Cryptogenic Cirrhosis (NASH-related Cirrhosis) With Diabetes or Impaired Glucose Tolerance or Insulin ResistanceCompletedNCT02234440
6Bartonella in Liver Transplant PatientsRecruitingNCT02595710
7Genetic Studies of Non-Alcoholic Fatty Liver DiseaseRecruitingNCT01629095
8Measurement of Fibrinogen in Patients With Systemic Inflammatory Response Syndrome (SIRS), Sepsis or Chronicle Liver Disease on Intensive Care Units (ICU)RecruitingNCT01169168
9The Efficacy of S-adenosyl Methionine (SAMe) Versus Pentoxiphylline in Patients With Non-alcoholic Steatohepatitis With FibrosisRecruitingNCT02231333
10National Lysosomal Acid Lipase Deficiency StudyRecruitingNCT02372513
11Natural History of Noncirrhotic Portal HypertensionRecruitingNCT02417740
12Be the Bridge Between Researchers and a Cure (GVHD, ALS, Hepatitis B, Alzheimer's Disease, Leukemia, and More)RecruitingNCT01931644
13Non Alcoholic Fatty Liver Disease (NAFLD) in Hong KongActive, not recruitingNCT00577044

Search NIH Clinical Center for Cirrhosis, Cryptogenic

Inferred drug relations via UMLS65/NDF-RT43:

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:

33
Liver, Thyroid, Breast, Heart, T cells, Kidney, Prostate

Animal Models for Cirrhosis, Cryptogenic or affiliated genes

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MGI Mouse Phenotypes related to Cirrhosis, Cryptogenic:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.5KRT18, KRT8

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:

67
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 pathwaysScoreTop Affiliating Genes
19.1KRT18, KRT8
2
Show member pathways
9.1KRT18, KRT8

GO Terms for genes affiliated with Cirrhosis, Cryptogenic

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

idNameGO IDScoreTop Affiliating Genes
1tumor necrosis factor-mediated signaling pathwayGO:00332099.1KRT18, KRT8

Sources for Cirrhosis, Cryptogenic

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet