Entry - 202550 - AGANGLIONOSIS, TOTAL INTESTINAL - OMIM

 
ICD+
202550

AGANGLIONOSIS, TOTAL INTESTINAL


Clinical Synopsis
 

GI
- Aganglionosis, total intestinal
Inheritance
- Autosomal recessive
▲ Close

▼ TEXT

MacKinnon and Cohen (1977) concluded that total intestinal aganglionosis is distinct from Hirschsprung disease (142623) of either the long or short segment type and is inherited as an autosomal recessive. They found reports of 9 cases in 6 families. Each of 3 families had 2 affected sibs.


▼ REFERENCES

  1. MacKinnon, A. E., Cohen, S. J. Total intestinal aganglionosis: an autosomal recessive condition? Arch. Dis. Child. 52: 898-899, 1977. [PubMed: 596929, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 6/2/1986
Edit History:
terry : 06/11/1999
mimadm : 11/12/1995
carol : 10/5/1993
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988

202550

AGANGLIONOSIS, TOTAL INTESTINAL


SNOMEDCT: 204745000;  



TEXT

MacKinnon and Cohen (1977) concluded that total intestinal aganglionosis is distinct from Hirschsprung disease (142623) of either the long or short segment type and is inherited as an autosomal recessive. They found reports of 9 cases in 6 families. Each of 3 families had 2 affected sibs.


REFERENCES

  1. MacKinnon, A. E., Cohen, S. J. Total intestinal aganglionosis: an autosomal recessive condition? Arch. Dis. Child. 52: 898-899, 1977. [PubMed: 596929] [Full Text: https://doi.org/10.1136/adc.52.11.898]


Creation Date:
Victor A. McKusick : 6/2/1986

Edit History:
terry : 06/11/1999
mimadm : 11/12/1995
carol : 10/5/1993
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988



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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: May 14, 2024