Gastrocutaneous syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PEPTIC ULCER/HIATAL HERNIA, MULTIPLE LENTIGINES/CAFE-AU-LAIT SPOTS, HYPERTELORISM, MYOPIA
Number of Symptoms 17
OrphanetNr: 2069
OMIM Id: 137270
ICD-10:
UMLs: C1850899
MeSH: C535651
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic hyperpigmentation of the skin
 -Rare genetic disease
Hyperpigmentation of the skin
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
2
 (HPO:0000664) Synophrys Occasional [Orphanet] 112 / 7739
3
 (HPO:0000582) Upslanted palpebral fissure Occasional [Orphanet] 185 / 7739
4
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
5
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
6
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
7
 (HPO:0005978) Type II diabetes mellitus Frequent [Orphanet] 68 / 7739
8
 (HPO:0002592) Gastric ulcer Very frequent [Orphanet] 39 / 7739
9
 (HPO:0004398) Peptic ulcer 7 / 7739
10
 (HPO:0002036) Hiatus hernia 24 / 7739
11
 (HPO:0002577) Abnormality of the stomach Very frequent [Orphanet] 84 / 7739
12
 (HPO:0001003) Multiple lentigines 11 / 7739
13
 (HPO:0000995) Melanocytic nevus Very frequent [Orphanet] 63 / 7739
14
 (HPO:0000957) Cafe-au-lait spot Very frequent [Orphanet] 84 / 7739
15
 (HPO:0004414) Abnormality of the pulmonary artery Frequent [Orphanet] 50 / 7739
16
 (HPO:0001677) Coronary artery disease Occasional [Orphanet] 58 / 7739
17
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM 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 ...