ORPHA:2069
Gastrocutaneous syndrome
historical
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent, Adult
- Status
- historical
A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gastrocutaneous syndrome | |
| fr | Syndrome gastro-cutané | |
| de | Gastro-kutanes Syndrom | |
| es | Síndrome gastrocutáneo | |
| it | Sindrome gastrocutanea | |
| nl | Gastrocutaan syndroom | |
| pt | Síndrome gastro-cutâneo | |
| pl | Zespół żołądkowo-skórny | |
| cs | Gastrokutánní syndrom | |
| uk | Шлунково-кишковий синдром | |
| zh | 胃皮肤综合征 | |
| tr | Gastrokutanöz sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 137270 | E | validated | |
| ICD-10 | Q85.8 | NTBT | attributed | validated |
| ICD-11 | EC23.1 | NTBT | index | validated |
| MONDO | 0007651 | E | validated | |
| MeSH | C535651 | E | validated | |
| UMLS | C1850899 | E | validated | |
| GARD | 2438 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:165658Genetic gastro-esophageal disease
rare genetic diseases - ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases - ORPHA:101936Rare gastroesophageal disease
rare gastroenterological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 24 cases | Worldwide | Case(s) | Validated | 7065007[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7065007[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002036 | Hiatus hernia | |
| HP:0000316 | Hypertelorism | |
| HP:0000995 | Melanocytic nevus | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0001003 | Multiple lentigines | |
| HP:0000545 | Myopia | |
| HP:0004398 | Peptic ulcer | |
| Frequent (79-30%) | ||
| HP:0005280 | Depressed nasal bridge | |
| HP:0005978 | Type II diabetes mellitus | |
| Occasional (29-5%) | ||
| HP:0001677 | Coronaryartery atherosclerosis | |
| HP:0000486 | Strabismus | |
| HP:0000664 | Synophrys | |
| HP:0000582 | Upslanted palpebral fissure | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2069
- This record as JSON: /data/d/2069.json