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Cirrhosis, familial

MedGen UID:
350049
Concept ID:
C1861556
Disease or Syndrome
Synonym: Cirrhosis, Familial
 
Gene (location): KRT18 (12q13.13)
 
Monarch Initiative: MONDO:0007329
OMIM®: 215600

Definition

Cirrhosis in which no causative agent can be identified. [from MONDO]

Clinical features

From HPO
Increased level of L-fucose in urine
MedGen UID:
1646743
Concept ID:
C4703633
Finding
An increase in the level of L-fucose in the urine.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Pulmonary arterial hypertension
MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Abdominal distention
MedGen UID:
34
Concept ID:
C0000731
Finding
Distention of the abdomen.
Ascites
MedGen UID:
416
Concept ID:
C0003962
Disease or Syndrome
Accumulation of fluid in the peritoneal cavity.
Esophageal varix
MedGen UID:
5027
Concept ID:
C0014867
Disease or Syndrome
Extreme dilation of the submucusoal veins in the lower portion of the esophagus.
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Cirrhosis of liver
MedGen UID:
7368
Concept ID:
C0023890
Disease or Syndrome
A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
Biliary cirrhosis
MedGen UID:
44182
Concept ID:
C0023892
Disease or Syndrome
Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.
Micronodular cirrhosis
MedGen UID:
75640
Concept ID:
C0267812
Disease or Syndrome
A type of cirrhosis characterized by the presence of small regenerative nodules.
Fulminant hepatitis
MedGen UID:
86223
Concept ID:
C0302809
Disease or Syndrome
Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice.
Lethargy
MedGen UID:
7310
Concept ID:
C0023380
Sign or Symptom
A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
Body temperature elevated above the normal range.
Increased level of propylene glycol in blood
MedGen UID:
1639186
Concept ID:
C4703635
Finding
An increase in the level of propylene glycol in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Cirrhosis, familial in Orphanet.

Recent clinical studies

Etiology

Giakoustidis A, Cherian TP, Antoniadis N, Giakoustidis D
J Gastrointestin Liver Dis 2011 Dec;20(4):415-21. PMID: 22187708
Lonardo A, Bagni A, Tarugi P, Loria P
Eur J Gastroenterol Hepatol 2004 Oct;16(10):1043-50. doi: 10.1097/00042737-200410000-00015. PMID: 15371930

Diagnosis

Gaur K, Sakhuja P, Mandal RN, Kapoor S
J Postgrad Med 2018 Apr-Jun;64(2):104-108. doi: 10.4103/jpgm.JPGM_359_17. PMID: 29692402Free PMC Article
Felgar RE, Montone KT, Furth EE
Mod Pathol 1996 Jun;9(6):696-702. PMID: 8782210

Therapy

Giakoustidis A, Cherian TP, Antoniadis N, Giakoustidis D
J Gastrointestin Liver Dis 2011 Dec;20(4):415-21. PMID: 22187708

Prognosis

Gaur K, Sakhuja P, Mandal RN, Kapoor S
J Postgrad Med 2018 Apr-Jun;64(2):104-108. doi: 10.4103/jpgm.JPGM_359_17. PMID: 29692402Free PMC Article

Clinical prediction guides

Patra S, Vij M, Kancherala R, Samal SC
Indian J Pediatr 2013 Aug;80(8):651-4. Epub 2012 Dec 22 doi: 10.1007/s12098-012-0935-1. PMID: 23263972
Lonardo A, Bagni A, Tarugi P, Loria P
Eur J Gastroenterol Hepatol 2004 Oct;16(10):1043-50. doi: 10.1097/00042737-200410000-00015. PMID: 15371930
Felgar RE, Montone KT, Furth EE
Mod Pathol 1996 Jun;9(6):696-702. PMID: 8782210

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    Curated

    • NICE, 2023
      UK NICE Guideline (NG50), Cirrhosis in over 16s: assessment and management, 2023

    Consumer resources

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