ORPHA:97286
Carney-Stratakis syndrome
Synonyms: Carney dyad · Carney-Stratakis dyad · GIST-paraganglioma dyad · Paraganglioma and gastric stromal sarcoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Carney-Stratakis syndrome | Carney dyad · Carney-Stratakis dyad · GIST-paraganglioma dyad · Paraganglioma and gastric stromal sarcoma |
| fr | Syndrome de Carney-Stratakis | Dyade GIST-paragangliome · Dyade de Carney · Dyade de Carney-Stratakis · Paragangliome et sarcome stromal gastrique |
| de | Carney-Stratakis-Syndrom | Carney-Stratakis-Dyade · GIST-Paragangliom-Dyade · Paragangliom und Magenstroma-Sarkom |
| es | Síndrome de Carney-Stratakis | Díada Carney · Díada Carney-Stratakis · Díada GIST-paraganglioma · Díada de Carney · Díada de Carney-Stratakis · Paraganglioma y sarcoma del estroma gástrico · Paraganglioma y sarcoma estromal gástrico |
| it | Sindrome di Carney-Stratakis | Associazione GIST - paraganglioma · Diade di Carney · Diade di Carney-Stratakis · Paraganglioma e sarcoma stromale gastrico |
| nl | Syndroom van Carney-Stratakis | Dyade van Carney · Dyade van Carney-Stratakis · GIST-paraganglioom-dyade · Paraganglioom en gastrisch stromaal sarcoom |
| pt | Síndrome Carney-Stratakis | Díade Carney · Díade Carney-Stratakis · Díade GIST-paraganglioma · Paraganglioma e sarcoma do estroma gástrico |
| pl | Zespół Carneya i Stratakisa | Diada Carneya · Diada Carneya i Stratakisa · Diada GIST-paraganglioma · Paraganglioma i mięsak podścieliskowy żołądka |
| cs | Carneyův-Stratakisův syndrom | Carneyho dyáda · Carneyho-Stratakisova dyáda · Dyáda GIST-paragangliom · Paragangliom a gastrický stromální sarkom · Carney-Stratakisův syndrom · Carney-Stratakisova dyáda |
| uk | Синдром Карні-Стратакіса | Діада Карні · Діада Карні-Стратакіс · Діада GIST-парагангліома · Парагангліома та стромальна саркома шлунка |
| zh | Carney-Stratakis综合征 | 副神经节瘤并胃间质肉瘤 |
| tr | Carney-Stratakis sendromu | Carney çifti · Carney-Stratakis çifti · GIST-paragangliyom çifti · Paragangliyom ve gastrik stromal sarkom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606864 | E | validated | |
| ICD-10 | D44.8 | NTBT | attributed | validated |
| ICD-11 | 2F7A.0 | NTBT | index | validated |
| MONDO | 0011740 | E | validated | |
| MeSH | C564650 | E | validated | |
| UMLS | C1847319 | E | validated | |
| GARD | 10643 | 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 (2):
- ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:100094Multiple polyglandular tumor
rare genetic diseases; rare endocrine diseases; rare neoplastic diseases
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SDHB | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10681 | ENSG00000117118 | 185470 | 1p36.13 | succinate dehydrogenase complex iron sulfur subunit B | 17667967[PMID] |
| SDHC | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10682 | ENSG00000143252 | 602413 | 1q23.3 | succinate dehydrogenase complex subunit C | 17667967[PMID] |
| SDHD | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10683 | ENSG00000204370 | 602690 | 11q23.1 | succinate dehydrogenase complex subunit D | 17667967[PMID] |
| SDHA | Disease-causing germline mutation(s) in | Assessed | HGNC:10680 | ENSG00000073578 | 600857 | 5p15.33 | succinate dehydrogenase complex flavoprotein subunit A | 31413764[PMID]_23282968[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100723 | Gastrointestinal stroma tumor | |
| HP:0002668 | Paraganglioma | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0002015 | Dysphagia | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0000365 | Hearing impairment | |
| HP:0005214 | Intestinal obstruction | |
| HP:0000360 | Tinnitus | |
| HP:0001824 | Weight loss | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/97286
- This record as JSON: /data/d/97286.json