Entry - 147710 - INTUSSUSCEPTION - OMIM

 
ICD+
147710

INTUSSUSCEPTION


Clinical Synopsis
 

GI
- Intussusception
Inheritance
- Autosomal dominant
▲ Close

▼ TEXT

The jejunal polyps of Peutz-Jeghers syndrome (175200) lead to intussusception. Idiopathic intussusception shows a modest degree of familial aggregation; see review of Jolly et al. (1982), who reported a family in which 5 members in 3 generations had intussusception in infancy. A girl without intussusception developed malignant hyperthermia of a nonrigid type (145600). Her father and a sister had elevated levels of serum creatine kinase. Two older sibs died inexplicably following anesthesia for intussusception surgery and may have had malignant hyperthermia. Jolly et al. (1982) considered the coexistence of these 2 disorders in this family to be happenstance, although clearly each was hereditary.


▼ REFERENCES

  1. Jolly, D. T., McKim, J. C., Corrin, M. H. A family with intussusception and malignant hyperthermia. Canad. Med. Assoc. J. 127: 737-738, 1982. [PubMed: 7139491, related citations]


Creation Date:
Victor A. McKusick : 6/2/1986
Edit History:
mimadm : 11/5/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/27/1989
marie : 3/25/1988
reenie : 6/2/1986

147710

INTUSSUSCEPTION


SNOMEDCT: 49723003;   ICD10CM: K56.1;   ICD9CM: 560.0;   DO: 8446;  



TEXT

The jejunal polyps of Peutz-Jeghers syndrome (175200) lead to intussusception. Idiopathic intussusception shows a modest degree of familial aggregation; see review of Jolly et al. (1982), who reported a family in which 5 members in 3 generations had intussusception in infancy. A girl without intussusception developed malignant hyperthermia of a nonrigid type (145600). Her father and a sister had elevated levels of serum creatine kinase. Two older sibs died inexplicably following anesthesia for intussusception surgery and may have had malignant hyperthermia. Jolly et al. (1982) considered the coexistence of these 2 disorders in this family to be happenstance, although clearly each was hereditary.


REFERENCES

  1. Jolly, D. T., McKim, J. C., Corrin, M. H. A family with intussusception and malignant hyperthermia. Canad. Med. Assoc. J. 127: 737-738, 1982. [PubMed: 7139491]


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

Edit History:
mimadm : 11/5/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/27/1989
marie : 3/25/1988
reenie : 6/2/1986



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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: April 20, 2024