MCID: CNG092
MIFTS: 18

Congenital Extrahepatic Portosystemic Shunt

Categories: Rare diseases

Aliases & Classifications for Congenital Extrahepatic Portosystemic Shunt

MalaCards integrated aliases for Congenital Extrahepatic Portosystemic Shunt:

Name: Congenital Extrahepatic Portosystemic Shunt 54
Abernethy Malformation 54
Ceps 54

Classifications:



Summaries for Congenital Extrahepatic Portosystemic Shunt

NIH Rare Diseases : 54 Congenital extrahepatic portosystemic shunt (CEPS) occurs when the blood vessels that go to the liver do not form correctly during fetal development. Toxins, that are normally removed by the liver, build up in the blood stream and can lead to symptoms such as decreased oxygen to the brain (hypoxia) and loss of brain function (hepatic encephalopathy). Symptoms can vary from person to person, and some people with CEPS have no symptoms. There are two types of CEPS. In type 1, the blood vessels going to the liver are missing, resulting in almost no blood flow through the liver. In type 2, blood vessels going to the liver have abnormal connections leading to decreased blood flow to the liver.    The cause for CEPS is unknown, but it sometimes occurs along with other conditions such as Down syndrome or congenital heart disease. CEPS can be diagnosed by different kinds of imaging studies, including ultrasound and CT scan. Treatment is based on the symptoms, and may include surgery or liver transplant in severe cases. The long-term outlook for people with CEPS depends on the severity of symptoms and the presence of other health conditions.

MalaCards based summary : Congenital Extrahepatic Portosystemic Shunt, also known as abernethy malformation, is related to porphyria, congenital erythropoietic and porphyria cutanea tarda. Affiliated tissues include liver, heart and brain.

Related Diseases for Congenital Extrahepatic Portosystemic Shunt

Diseases related to Congenital Extrahepatic Portosystemic Shunt via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 porphyria, congenital erythropoietic 12.2
2 porphyria cutanea tarda 11.1
3 hepatocellular carcinoma 10.5
4 encephalopathy 10.4
5 hepatic encephalopathy 10.3
6 hepatopulmonary syndrome 10.3
7 heterotaxy 10.3
8 frasier syndrome 10.2
9 porphyria 10.2
10 pneumonia 10.2
11 eosinophilic pneumonia 10.2
12 chronic eosinophilic pneumonia 10.2
13 pulmonary hypertension 10.2
14 biliary atresia 10.2
15 congenital portosystemic shunt 10.2
16 fatty liver disease, nonalcoholic 1 10.1
17 inguinal hernia 10.1
18 thrombosis 10.1
19 seizure disorder 10.1
20 klippel-trenaunay-weber syndrome 10.0
21 tetralogy of fallot 10.0
22 budd-chiari syndrome 10.0
23 cholangiocarcinoma 10.0
24 chronic kidney failure 10.0
25 visceral heterotaxy 10.0
26 heart disease 10.0
27 nephrotic syndrome 10.0
28 hepatic coma 10.0
29 ventricular septal defect 10.0
30 vascular disease 10.0
31 hyperinsulinism 10.0
32 intrahepatic cholangiocarcinoma 10.0
33 kidney disease 10.0
34 hepatoblastoma 10.0
35 weber syndrome 10.0
36 angioosteohypertrophic syndrome 10.0
37 combined hepatocellular carcinoma and cholangiocarcinoma 10.0
38 elastosis perforans serpiginosa 10.0
39 ovarian cancer 10.0
40 cervical cancer 10.0
41 tropical calcific pancreatitis 10.0
42 intraocular pressure quantitative trait locus 10.0
43 systemic scleroderma 10.0
44 ectopic pregnancy 10.0
45 churg-strauss syndrome 10.0
46 allergic angiitis 10.0
47 eosinophilic granulomatosis with polyangiitis 10.0

Graphical network of the top 20 diseases related to Congenital Extrahepatic Portosystemic Shunt:



Diseases related to Congenital Extrahepatic Portosystemic Shunt

Symptoms & Phenotypes for Congenital Extrahepatic Portosystemic Shunt

Drugs & Therapeutics for Congenital Extrahepatic Portosystemic Shunt

Search Clinical Trials , NIH Clinical Center for Congenital Extrahepatic Portosystemic Shunt

Genetic Tests for Congenital Extrahepatic Portosystemic Shunt

Anatomical Context for Congenital Extrahepatic Portosystemic Shunt

MalaCards organs/tissues related to Congenital Extrahepatic Portosystemic Shunt:

42
Liver, Heart, Brain, Kidney, Ovary

Publications for Congenital Extrahepatic Portosystemic Shunt

Articles related to Congenital Extrahepatic Portosystemic Shunt:

(show top 50) (show all 102)
# Title Authors Year
1
Laparoscopic ligation of a congenital extrahepatic portosystemic shunt for children with hyperammonemia: a single-institution experience. ( 30392166 )
2019
2
Type I congenital extrahepatic portosystemic shunt treated by orthotopic liver transplantation: A case report. ( 31024963 )
2019
3
Congenital extrahepatic portosystemic shunt with progressive myelopathy and encephalopathy. ( 31048365 )
2019
4
Abernethy malformation type 2: varied presentation, management and outcome. ( 30262201 )
2019
5
Histopathology of livers in patients with congenital portosystemic shunts (Abernethy malformation): a case series of 22 patients. ( 30357455 )
2019
6
Liver histopathology in patients with hepatic masses and the Abernethy malformation. ( 30528201 )
2019
7
Abernethy Malformation Type 2 and Biliary Atresia Coexistence: A Rare Cause of Infantile Liver Transplant. ( 30828559 )
2018
8
Type II Abernethy Malformation in a Patient with Primary Budd-Chiari Syndrome. ( 30596618 )
2018
9
Radioembolization for Hepatocellular Carcinoma Arising in the Setting of a Congenital Extrahepatic Portosystemic Shunt (Abernethy Malformation). ( 29675774 )
2018
10
Catheter Embolization of Type II Congenital Extrahepatic Portosystemic Shunt with Hematochezia: A Case Series and Review of the Literature. ( 29691614 )
2018
11
Gradual attenuation of a congenital extrahepatic portosystemic shunt with a self-retaining polyacrylic acid-silicone device in 6 dogs. ( 29697147 )
2018
12
Correction to: Radioembolization for Hepatocellular Carcinoma Arising in the Setting of a Congenital Extrahepatic Portosystemic Shunt (Abernethy Malformation). ( 29931385 )
2018
13
Recanalisation of a congenital extrahepatic portosystemic shunt previously attenuated with cellophane banding in a cat. ( 30186617 )
2018
14
Erratum: Recanalisation of a congenital extrahepatic portosystemic shunt previously attenuated with cellophane banding in a cat. ( 30263145 )
2018
15
Congenital extrahepatic portosystemic shunt: description of four cases and review of the literature. ( 30357760 )
2018
16
Endovascular Closure of a Large Congenital Extrahepatic Portosystemic Shunt (Abernethy Malformation) Using Vena Cava Filter and AMPLATZER Vascular Plugs. ( 30368322 )
2018
17
Abernethy malformation: beware in cases of unexplained hepatic encephalopathy in adults-case report and review of the relevant literature. ( 30363163 )
2018
18
Hepatocellular Carcinoma in Abernethy Malformation: A Rare Occurrence of Congenital Complete Portosystemic Shunt. ( 30502882 )
2018
19
A rare case of portosystemic shunt: Variation of Abernethy malformation. ( 29233631 )
2018
20
Confusion for Fifteen Years: A Case of Abernethy Malformation. ( 29330099 )
2018
21
Haemodynamic consequences following closure of an Abernethy malformation in a patient following a total cavopulmonary shunt. ( 29463344 )
2018
22
The Abernethy malformation with inferior caval vein hypoplasia: a tailored technique for transcatheter closure and an insight into embryological perspective. ( 29978777 )
2018
23
Abernethy Malformation Type II and Concurrent Nodular Hyperplasia in a Rare Female Case. ( 30073109 )
2018
24
Rex Shunt as a Treatment of Type II Abernethy Malformation with Severe Dysplasia of Portal Vein. ( 30081160 )
2018
25
Abernethy malformation: Single-center experience from India with review of literature. ( 30187299 )
2018
26
Prepared for the Unexpected: Accessory Ovaries with Abernethy Malformation. ( 30553034 )
2018
27
A Type II Congenital Extrahepatic Portosystemic Shunt: A Rare Cause of Abdominal Pain Diagnosed by Point-of-Care Ultrasound. ( 28162834 )
2017
28
Congenital Extrahepatic Portosystemic Shunt (Abernethy Malformation Type Ib) With Associated Hepatocellular Carcinoma: Case Report and Literature Review. ( 28727971 )
2017
29
Congenital Extrahepatic Portosystemic Shunt Embolization with the Use of a Duct Occluder in a Neonate with Liver Dysfunction and Hyperammonemia. ( 28841939 )
2017
30
Rare association of progressive congenital extrahepatic portosystemic shunt with development of multifocal hepatocellular carcinoma. ( 30363309 )
2017
31
Hepatoblastoma and Abernethy Malformation Type I: Case Report. ( 27467369 )
2017
32
Live donor liver transplantation for a child presented with severe hepatopulmonary syndrome and nodular liver lesions due to Abernethy malformation. ( 28078819 )
2017
33
An Infant with Abernethy Malformation Associated with Heterotaxy and Pulmonary Hypertension. ( 28875963 )
2017
34
Transplantation for Large Liver Tumors in the Setting of Abernethy Malformation. ( 28302006 )
2017
35
Recurrent Hyperammonemia After Abernethy Malformation Type 2 Closure: a Case Report. ( 28425418 )
2017
36
Three-Dimensional Printing Facilitates Successful Endovascular Closure of a Type II Abernethy Malformation Using an Amplatzer Atrial Septal Occluder Device. ( 28502889 )
2017
37
Abernethy malformation associated with Caroli's syndrome in a patient with a PKHD1 mutation: a case report. ( 28814334 )
2017
38
Combined hepatocellular-cholangiocarcinoma in a patient with Abernethy malformation and tetralogy of Fallot: A case report. ( 27227347 )
2016
39
Congenital extrahepatic portosystemic shunt: an underdiagnosed but treatable cause of hepatopulmonary syndrome. ( 26311567 )
2016
40
Congenital Extrahepatic Portosystemic Shunt with Multiple Visceral Aneurysms. ( 26781025 )
2016
41
Congenital Extrahepatic Portosystemic Shunt (Abernethy Malformation Type Ib) with Associated Hepatocellular Carcinoma: Case report and Literature Review. ( 27116469 )
2016
42
Congenital Extrahepatic Portosystemic Shunt in a Child With Caroli's Syndrome. ( 28119942 )
2016
43
Role of ultrasonography in early diagnosis of congenital extrahepatic portosystemic shunt. ( 30363630 )
2016
44
Multiple regenerative nodular hyperplasia in the left infrarenal vena cava accompanied by Abernethy malformation. ( 25813917 )
2016
45
Multiple β-catenin mutations in hepatocellular lesions arising in Abernethy malformation. ( 27038679 )
2016
46
The Abernethy malformation-myriad imaging manifestations of a single entity. ( 27857464 )
2016
47
Abernethy malformation type I (congenital absence of the portal vein) in a patient with chronic kidney disease. ( 28010000 )
2016
48
Congenital extrahepatic portosystemic shunt. ( 26140564 )
2015
49
Congenital extrahepatic portosystemic shunt complicated by the development of hepatocellular carcinoma. ( 26459734 )
2015
50
Abernethy malformation: congenital portosystemic shunt. ( 25480436 )
2015

Variations for Congenital Extrahepatic Portosystemic Shunt

Expression for Congenital Extrahepatic Portosystemic Shunt

Search GEO for disease gene expression data for Congenital Extrahepatic Portosystemic Shunt.

Pathways for Congenital Extrahepatic Portosystemic Shunt

GO Terms for Congenital Extrahepatic Portosystemic Shunt

Sources for Congenital Extrahepatic Portosystemic Shunt

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