Carcinoid syndrome
Synonyms: Malignant carcinoid syndrome
- Type
- Clinical syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare neoplastic disease characterized by the occurrence of a hormonal syndrome resulting from secretion of humoral factors (including polypeptides, vasoactive amines, and prostaglandins) from a functional neuroendocrine tumor (particularly from the midgut), typically manifesting with increased bowel movements and diarrhea, episodic vasoactive flushes (particularly of the face), hypotension, tachycardia, venous telangiectasia, dyspnea, and bronchospasms, as well as long-term fibrotic changes in the mesentery, retroperitoneum, and of the cardiac valves.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Carcinoid syndrome | Malignant carcinoid syndrome |
| fr | Syndrome carcinoïde | Syndrome carcinoïde malin |
| de | Karzinoides Syndrom | Karzinoidsyndrom, malignes |
| es | Síndrome carcinoide | Síndrome carcinoide maligno |
| it | Sindrome del carcinoide | |
| nl | Carcinoïdsyndroom | Maligne carcinoïdsyndroom |
| pt | Tumor carcinóide e síndrome carcinóide | |
| pl | Zespół rakowiaka | Złośliwy zespół rakowiaka |
| cs | Karcinoid a karcinoidový syndrom | = en |
| uk | Карциноїдний синдром | Синдром злоякісного карциноїду |
| zh | 类癌综合征 | 恶性类癌综合征 |
| tr | Karsinoid sendrom | Habis karsinoid sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E34.0 | E | specific | validated |
| ICD-11 | 5B10 | E | specific | validated |
| MONDO | 0100347 | E | validated | |
| MeSH | D008303 | E | validated | |
| UMLS | C0024586 | E | validated | |
| GARD | 5994 | E | validated | |
| MedDRA | 10007270 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:877Neuroendocrine neoplasm
rare endocrine diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SDHD | Candidate gene tested in | Not yet assessed | HGNC:10683 | ENSG00000204370 | 602690 | 11q23.1 | succinate dehydrogenase complex subunit D | 12007193[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
27 annotations · validated 2017-11-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0100570 | Carcinoid tumor | |
| Frequent (79-30%) | ||
| HP:0002574 | Episodic abdominal pain | |
| HP:0025474 | Erythematous plaque | |
| HP:0006723 | Intestinal carcinoid | |
| HP:0030166 | Night sweats | |
| HP:0004385 | Protracted diarrhea | |
| HP:0006722 | Small intestine carcinoid | |
| Occasional (29-5%) | ||
| HP:0031138 | Abnormal B-type natriuretic peptide level | |
| HP:0002099 | Asthma | |
| HP:4000007 | Bronchoconstriction | |
| HP:0002730 | Chronic noninfectious lymphadenopathy | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0009926 | Epiphora | |
| HP:0007380 | Facial telangiectasia | |
| HP:0030148 | Heart murmur | |
| HP:0003144 | Increased serum serotonin | |
| HP:0002017 | Nausea and vomiting | |
| HP:0001962 | Palpitations | |
| HP:0030445 | Pulmonary carcinoid tumor | |
| HP:0031417 | Rhinorrhea | |
| HP:0001708 | Right ventricular failure | |
| HP:0005180 | Tricuspid regurgitation | |
| Very rare (<4-1%) | ||
| HP:0030446 | Atypical pulmonary carcinoid tumor | |
| HP:0002605 | Hepatic necrosis | |
| HP:0030145 | Lack of bowel sounds | |
| HP:0003198 | Myopathy | |
| HP:0002668 | Paraganglioma | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 22052063[PMID]_12007193[PMID]_5936207[PMID]_2920654[PMID]_10925383[PMID]_25865046[PMID]_25376364[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100093
- This record as JSON: /data/d/100093.json