Entry - 601004 - PORTAL VEIN, CAVERNOUS TRANSFORMATION OF - OMIM

 
 
601004

PORTAL VEIN, CAVERNOUS TRANSFORMATION OF


Clinical Synopsis
 

INHERITANCE
- Autosomal dominant
CARDIOVASCULAR
Vascular
- Extrahepatic portal hypertension (EHPH)
- Cavernous transformation of portal vein
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▼ TEXT

Ramirez et al. (1995) reported the occurrence of idiopathic extrahepatic portal hypertension (EHPH) due to cavernous transformation of the portal vein in a father and daughter who both had complications of portal hypertension in early childhood. In addition, the father had juvenile polyposis coli (174900).


▼ REFERENCES

  1. Ramirez, R. O., Sokol, R. J., Hays, T., Silverman, H. Case report: familial occurrence of cavernous transformation of the portal vein. J. Pediat. Gastroent. Nutr. 21: 313-318, 1995. [PubMed: 8523216, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 1/22/1996
Edit History:
carol : 01/22/1999
alopez : 7/10/1997
mark : 1/24/1996
mark : 1/22/1996

601004

PORTAL VEIN, CAVERNOUS TRANSFORMATION OF



TEXT

Ramirez et al. (1995) reported the occurrence of idiopathic extrahepatic portal hypertension (EHPH) due to cavernous transformation of the portal vein in a father and daughter who both had complications of portal hypertension in early childhood. In addition, the father had juvenile polyposis coli (174900).


REFERENCES

  1. Ramirez, R. O., Sokol, R. J., Hays, T., Silverman, H. Case report: familial occurrence of cavernous transformation of the portal vein. J. Pediat. Gastroent. Nutr. 21: 313-318, 1995. [PubMed: 8523216] [Full Text: https://doi.org/10.1097/00005176-199510000-00010]


Creation Date:
Victor A. McKusick : 1/22/1996

Edit History:
carol : 01/22/1999
alopez : 7/10/1997
mark : 1/24/1996
mark : 1/22/1996



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: June 8, 2024