MCID: GST056
MIFTS: 17

Gastrocutaneous Syndrome

Categories: Gastrointestinal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Gastrocutaneous Syndrome

MalaCards integrated aliases for Gastrocutaneous Syndrome:

Name: Gastrocutaneous Syndrome 56 74 52 58 71
Peptic Ulcer/hiatal Hernia, Multiple Lentigines/cafe-Au-Lait Spots, Hypertelorism, Myopia 56 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
gastrocutaneous syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare skin diseases


External Ids:

OMIM 56 137270
MESH via Orphanet 44 C535651
UMLS via Orphanet 72 C1850899
Orphanet 58 ORPHA2069
MedGen 41 C1850899
UMLS 71 C1850899

Summaries for Gastrocutaneous Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2069 Definition A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and cafe-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982. Visit the Orphanet disease page for more resources.

MalaCards based summary : Gastrocutaneous Syndrome, is also known as peptic ulcer/hiatal hernia, multiple lentigines/cafe-au-lait spots, hypertelorism, myopia. Affiliated tissues include skin, and related phenotypes are hypertelorism and myopia

Wikipedia : 74 Gastrocutaneous syndrome is a rare autosomal dominant cutaneous condition characterized by multiple... more...

More information from OMIM: 137270

Related Diseases for Gastrocutaneous Syndrome

Symptoms & Phenotypes for Gastrocutaneous Syndrome

Human phenotypes related to Gastrocutaneous Syndrome:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
3 melanocytic nevus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000995
4 multiple cafe-au-lait spots 58 31 hallmark (90%) Very frequent (99-80%) HP:0007565
5 peptic ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0004398
6 multiple lentigines 58 31 hallmark (90%) Very frequent (99-80%) HP:0001003
7 hiatus hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002036
8 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
9 type ii diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0005978
10 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
11 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
12 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
13 coronary artery atherosclerosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001677
14 cafe-au-lait spot 31 HP:0000957

Symptoms via clinical synopsis from OMIM:

56
Facies:
hypertelorism

G I:
peptic ulcer
hiatal hernia

Eyes:
myopia

Skin:
multiple lentigines
cafe-au-lait spots

Clinical features from OMIM:

137270

Drugs & Therapeutics for Gastrocutaneous Syndrome

Search Clinical Trials , NIH Clinical Center for Gastrocutaneous Syndrome

Genetic Tests for Gastrocutaneous Syndrome

Anatomical Context for Gastrocutaneous Syndrome

MalaCards organs/tissues related to Gastrocutaneous Syndrome:

40
Skin

Publications for Gastrocutaneous Syndrome

Articles related to Gastrocutaneous Syndrome:

# Title Authors PMID Year
1
Gastro-cutaneous syndrome: peptic ulcer/hiatal hernia, multiple lentigines/café-au-lait spots, hypertelorism, and myopia. 56
7065007 1982

Variations for Gastrocutaneous Syndrome

Expression for Gastrocutaneous Syndrome

Search GEO for disease gene expression data for Gastrocutaneous Syndrome.

Pathways for Gastrocutaneous Syndrome

GO Terms for Gastrocutaneous Syndrome

Sources for Gastrocutaneous Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....