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Items: 14

1.

Familial Intrahepatic Cholestasis

MedGen UID:
893531
Concept ID:
CN239338
Disease or Syndrome
2.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
3.

Cholangiocarcinoma

Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension. [from HPO]

MedGen UID:
830714
Concept ID:
CN221674
Finding
4.

Cholangiocarcinoma, susceptibility to

Carcinomas of the biliary tract are aggressive malignancies, with 5-year survival of less than 10%. These carcinomas arise throughout the biliary tree and are anatomically classified as either intrahepatic or extrahepatic cholangiocarcinomas. Gallbladder carcinomas also arise from the biliary tree but have distinct natural histories compared to cholangiocarcinomas, suggesting different underlying tumor biology. Cholangiocarcinoma incidence varies widely between geographic regions, reflecting the impact of different underlying etiologies. In endemic areas, liver fluke infections by O. viverrini and Clonorchis sinensis, both group I carcinogens, represent the major risk factor for cholangiocarcinomas. In nonendemic regions, other risk factors, including choledochal cysts (603003), hepatolithiasis, and primary sclerosing cholangitis (613806), are likely contributors (summary by Chan-on et al., 2013). Overall, the majority of patients lack such identifiable risk factors (summary by Jiao et al., 2013). [from OMIM]

MedGen UID:
816486
Concept ID:
C3810156
Finding; Neoplastic Process
5.

Intrahepatic cholestasis

Impairment of bile flow due to obstruction in the small bile ducts within the liver. [from HPO]

MedGen UID:
504831
Concept ID:
CN001287
Finding
6.

Cholestasis

Impairment of bile flow due to obstruction in bile ducts. [from HPO]

MedGen UID:
504828
Concept ID:
CN001277
Finding
7.

Progressive intrahepatic cholestasis

ATP8B1 deficiency encompasses a phenotypic spectrum ranging from severe to intermediate to mild, based on an individual’s clinical findings and laboratory test results, including liver biopsy. Severe ATP8B1 deficiency is characterized by onset of symptoms of cholestasis (pruritus and attacks of jaundice) within the first few months of life. Secondary manifestations such as coagulopathy (due to vitamin K deficiency), malabsorption, and poor weight gain may present earlier than age three months. Without surgical intervention, cirrhosis and evolution to end-stage hepatic failure and death usually ensue before the third decade. Mild ATP8B1 deficiency is characterized by intermittent episodes of cholestasis manifest as severe pruritus and jaundice; chronic liver damage does not typically develop. In contrast to patients in whom bouts of cholestasis are induced only by particular triggers known to increase risk of cholestasis (drug exposure, shifts in hormonal milieu [including those resulting from ingestion of contraceptive drugs or from pregnancy], coexistent malignancy), some or all bouts of cholestasis in individuals with mild ATP8B1 deficiency have different or unknown triggers. [from GeneReviews]

MedGen UID:
75668
Concept ID:
C0268312
Congenital Abnormality; Disease or Syndrome
8.

Transplantation

MedGen UID:
881115
Concept ID:
CN236682
Disease or Syndrome
9.

liver transplantation

MedGen UID:
880996
Concept ID:
CN236686
Disease or Syndrome
10.

Carcinoma

A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus). [from HPO]

MedGen UID:
2867
Concept ID:
C0007097
Neoplastic Process
11.

Adenocarcinoma

A malignant neoplasm arising from glandular cells. [from NCI]

MedGen UID:
122
Concept ID:
C0001418
Neoplastic Process
12.

Cholestasis, progressive familial intrahepatic, 5

Progressive familial intrahepatic cholestasis-5 (PFIC5) is an autosomal recessive severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period. The disease is rapidly progressive, leading to liver failure and death if liver transplant is not performed. Other features include abnormal liver enzymes, low to normal gamma-glutamyl transferase (GGT) activity, increased alpha-fetoprotein, and a vitamin K-independent coagulopathy (summary by Gomez-Ospina et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600). [from OMIM]

MedGen UID:
892008
Concept ID:
CN237812
Disease or Syndrome
13.

Progressive familial intrahepatic cholestasis 2

ATP8B1 deficiency encompasses a phenotypic spectrum ranging from severe to intermediate to mild, based on an individual’s clinical findings and laboratory test results, including liver biopsy. Severe ATP8B1 deficiency is characterized by onset of symptoms of cholestasis (pruritus and attacks of jaundice) within the first few months of life. Secondary manifestations such as coagulopathy (due to vitamin K deficiency), malabsorption, and poor weight gain may present earlier than age three months. Without surgical intervention, cirrhosis and evolution to end-stage hepatic failure and death usually ensue before the third decade. Mild ATP8B1 deficiency is characterized by intermittent episodes of cholestasis manifest as severe pruritus and jaundice; chronic liver damage does not typically develop. In contrast to patients in whom bouts of cholestasis are induced only by particular triggers known to increase risk of cholestasis (drug exposure, shifts in hormonal milieu [including those resulting from ingestion of contraceptive drugs or from pregnancy], coexistent malignancy), some or all bouts of cholestasis in individuals with mild ATP8B1 deficiency have different or unknown triggers. [from GeneReviews]

MedGen UID:
356162
Concept ID:
C1866138
Disease or Syndrome
14.

Reduced number of intrahepatic bile ducts

The presence of reduced numbers of intrahepatic bile duct than normal. [from HPO]

MedGen UID:
348405
Concept ID:
C1861621
Finding
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