Entry - 137270 - GASTROCUTANEOUS SYNDROME - OMIM

 
ICD+
137270

GASTROCUTANEOUS SYNDROME


Alternative titles; symbols

PEPTIC ULCER/HIATAL HERNIA, MULTIPLE LENTIGINES/CAFE-AU-LAIT SPOTS, HYPERTELORISM, MYOPIA


Clinical Synopsis
 

GI
- Peptic ulcer
- Hiatal hernia
Skin
- Multiple lentigines
- Cafe-au-lait spots
Facies
- Hypertelorism
Eyes
- Myopia
Inheritance
- Autosomal dominant
▲ Close

TEXT

▼ Clinical Features

Halal et al. (1982) described a French Canadian kindred with these features in multiple persons in an autosomal dominant pedigree pattern. The proband, a 14-year-old girl, presented with bleeding antral ulcer; she had had pigmented spots over the back since age 2 years and wore spectacles for myopia from an early age. Male-to-male transmission was noted. Other syndromes with peptic ulcer are multiple endocrine neoplasia (131100) and the tremor-nystagmus-ulcer syndrome (190310).


▼ REFERENCES

  1. Halal, F., Gervais, M.-H., Baillargeon, J., Lesage, R. Gastro-cutaneous syndrome: peptic ulcer-hiatal hernia, multiple lentigines-cafe-au-lait spots, hypertelorism, and myopia. Am. J. Med. Genet. 11: 161-176, 1982. [PubMed: 7065007, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 6/4/1986
Edit History:
alopez : 09/12/2013
alopez : 7/31/1997
mimadm : 9/24/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 6/4/1986

137270

GASTROCUTANEOUS SYNDROME


Alternative titles; symbols

PEPTIC ULCER/HIATAL HERNIA, MULTIPLE LENTIGINES/CAFE-AU-LAIT SPOTS, HYPERTELORISM, MYOPIA


SNOMEDCT: 782946000;   ORPHA: 2069;  



TEXT

Clinical Features

Halal et al. (1982) described a French Canadian kindred with these features in multiple persons in an autosomal dominant pedigree pattern. The proband, a 14-year-old girl, presented with bleeding antral ulcer; she had had pigmented spots over the back since age 2 years and wore spectacles for myopia from an early age. Male-to-male transmission was noted. Other syndromes with peptic ulcer are multiple endocrine neoplasia (131100) and the tremor-nystagmus-ulcer syndrome (190310).


REFERENCES

  1. Halal, F., Gervais, M.-H., Baillargeon, J., Lesage, R. Gastro-cutaneous syndrome: peptic ulcer-hiatal hernia, multiple lentigines-cafe-au-lait spots, hypertelorism, and myopia. Am. J. Med. Genet. 11: 161-176, 1982. [PubMed: 7065007] [Full Text: https://doi.org/10.1002/ajmg.1320110206]


Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
alopez : 09/12/2013
alopez : 7/31/1997
mimadm : 9/24/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 6/4/1986



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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: May 4, 2024