MCID: CRR007
MIFTS: 38

Cirrhosis, Cryptogenic malady

Categories: Genetic diseases, Liver diseases, Rare diseases

Aliases & Classifications for Cirrhosis, Cryptogenic

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Aliases & Descriptions for Cirrhosis, Cryptogenic:

Name: Cirrhosis, Cryptogenic 50 24 12 66
Cryptogenic Cirrhosis 24 68 25
Cirrhosis, Noncryptogenic 50 25
Cirrhosis, Familial Cirrhosis, Familial, with Pulmonary Hypertension, Included 50
Non-Wilsonian Hepatic Copper Toxicosis of Infancy and Childhood 52
 
Cirrhosis, Noncryptogenic, Susceptibility to 12
Idiopathic Copper-Associated Cirrhosis 52
Cirrhosis 68
Cirrh 68

Characteristics:

Orphanet epidemiological data:

52
non-wilsonian hepatic copper toxicosis of infancy and childhood:
Age of onset: Childhood; Age of death: adolescent,late childhood

Classifications:

Orphanet: 52 
Rare hepatic diseases


External Ids:

OMIM50 215600
Orphanet52 ORPHA209919
ICD10 via Orphanet29 K74.6

Summaries for Cirrhosis, Cryptogenic

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UniProtKB/Swiss-Prot:68 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 jaundice, lethargy and micronodular cirrhosis. An important gene associated with Cirrhosis, Cryptogenic is KRT8 (Keratin 8), and among its related pathways are Cytoskeletal Signaling and EGFR1 Signaling Pathway. Affiliated tissues include liver.

Genetics Home Reference:24 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:50 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 all 43)
idRelated DiseaseScoreTop Affiliating Genes
1primary biliary cirrhosis12.5
2liver cirrhosis12.4
3alcoholic liver cirrhosis12.4
4hypermanganesemia with dystonia, polycythemia, and cirrhosis12.3
5cirrhosis, north american indian childhood type12.3
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
11berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification11.9
12reynolds syndrome11.6
13hemochromatosis11.6
14primary biliary cholangitis11.5
15mitochondrial dna depletion syndrome 4a11.4
16hepatitis11.2
17emphysema due to aat deficiency11.2
18glycogen storage disease iv11.2
19hepatocellular carcinoma11.0
20hepatitis c10.9
21hepatitis b10.9
22short stature-deafness-neutrophil dysfunction-dysmorphism syndrome9.9KRT18, KRT8
23hypotrichosis 139.8KRT18, KRT8
24propriospinal myoclonus9.8KRT18, KRT8
25anterior horn cell disease9.8KRT18, KRT8
26brain stem ependymoma9.8KRT18, KRT8
27oligoastrocytoma9.8KRT18, KRT8
28bladder clear cell adenocarcinoma9.8KRT18, KRT8
29rhinitis9.8KRT18, KRT8
30comedo carcinoma9.8KRT18, KRT8
31portal hypertension9.8
32cribriform carcinoma9.8KRT18, KRT8
33scrotal carcinoma9.8KRT18, KRT8
34mucinous adenofibroma9.7KRT18, KRT8
35nerve root neoplasm9.7KRT18, KRT8
36reactive arthritis9.7KRT18, KRT8
37retroperitoneal germ cell neoplasm9.7KRT18, KRT8
38cystic nephroma9.6KRT18, KRT8
39myoepithelial carcinoma9.6KRT18, KRT8
40ureterocele9.5KRT18, KRT8
41lymphoblastic lymphoma9.5KRT18, KRT8
42distal arthrogryposis9.4KRT18, KRT8
43kidney hemangiopericytoma9.2KRT18, KRT8

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 jaundice HP:0000952
2 lethargy HP:0001254
3 micronodular cirrhosis HP:0001413
4 fever HP:0001945
5 esophageal varix HP:0002040
6 pulmonary hypertension HP:0002092
7 abdominal distention HP:0003270

Drugs & Therapeutics for Cirrhosis, Cryptogenic

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
protease inhibitorsPhase 25157
Synonyms:
 
protease inhibitors
2
Zinc21547440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
3
Metformin1701657-24-914219, 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
DMGG
Diabetosan
Diabex
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
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
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
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
4insulin4401
5
Pentoxifylline936493-05-64740
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
6methionineNutraceutical76

Interventional clinical trials:

(show all 15)
idNameStatusNCT IDPhase
1SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfaActive, 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 DeficiencyActive, not recruitingNCT02193867Phase 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
9Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant PatientsRecruitingNCT02851550
10Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant.RecruitingNCT02852304
11The Efficacy of S-adenosyl Methionine (SAMe) Versus Pentoxiphylline in Patients With Non-alcoholic Steatohepatitis With FibrosisRecruitingNCT02231333
12National Lysosomal Acid Lipase Deficiency StudyRecruitingNCT02372513
13Natural History of Noncirrhotic Portal HypertensionRecruitingNCT02417740
14Be the Bridge Between Researchers and a Cure (GVHD, ALS, Hepatitis B, Alzheimer's Disease, Leukemia, and More)RecruitingNCT01931644
15Non Alcoholic Fatty Liver Disease (NAFLD) in Hong KongActive, not recruitingNCT00577044

Search NIH Clinical Center for Cirrhosis, Cryptogenic

Genetic Tests for Cirrhosis, Cryptogenic

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Genetic tests related to Cirrhosis, Cryptogenic:

id Genetic test Affiliating Genes
1 Cirrhosis, Noncryptogenic, Susceptibility to25
2 Cirrhosis, Cryptogenic25

Anatomical Context for Cirrhosis, Cryptogenic

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MalaCards organs/tissues related to Cirrhosis, Cryptogenic:

34
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:

68
id Symbol AA change Variation ID SNP ID
1KRT18p.His128LeuVAR_003852rs57758506
2KRT18p.Thr103AlaVAR_023054rs61136606
3KRT18p.Arg261GlnVAR_023056rs57354642
4KRT18p.Gly340ArgVAR_023057rs57370769
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
29.1KRT18, KRT8
3
Show member pathways
9.1KRT18, 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
1keratin filamentGO:00450959.1KRT18, KRT8
2cell peripheryGO:00719449.1KRT18, KRT8
3intermediate filamentGO:00058828.8KRT18, KRT8

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

idNameGO IDScoreTop Affiliating Genes
1extrinsic apoptotic signaling pathwayGO:00971919.5KRT18, KRT8
2tumor necrosis factor-mediated signaling pathwayGO:00332099.5KRT18, KRT8
3hepatocyte apoptotic processGO:00972849.1KRT18, KRT8
4viral processGO:00160328.8KRT18, KRT8

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

idNameGO IDScoreTop Affiliating Genes
1scaffold protein bindingGO:00971109.1KRT18, KRT8
2structural molecule activityGO:00051989.0KRT18, KRT8

Sources for Cirrhosis, Cryptogenic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet