Ganglioneuroma
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
Ganglioneuroma is a rare tumor of neuroepithelial tissue, a benign and well-differentiated tumor of neural crest origin, arising from the sympathetic nervous system and composed of ganglion cells and stromal Schwann cells. It can arise anywhere from the base of the skull to the pelvis, with the most frequent locations being the adrenal glands, retroperitoneum, posterior mediastinum and the pelvis, or, in rare cases, the central nervous system, heart, bones, intestine or other sites. It may be asymptomatic or present with various symptoms due to mass effect. Association with neurofibromatosis type I, multiple endocrine neoplasia type 2B and Turner syndrome was reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ganglioneuroma | |
| fr | Ganglioneurome | |
| de | Ganglioneurom | |
| es | Ganglioneuroma | |
| it | Ganglioneuroma | |
| nl | Ganglioneuroom | |
| pt | Glanglioneuroma | |
| pl | Zwojakonerwiak | |
| cs | Ganglioneurom | |
| uk | Гангліоневрома | |
| zh | 神经节瘤 | |
| tr | Ganglionörom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D36.1 | NTBT | index | validated |
| ICD-11 | 2A00.21 | NTBT | index | validated |
| ICD-11 | XH03L9 | E | specific | validated |
| MONDO | 0005033 | E | validated | |
| MeSH | D005729 | E | validated | |
| UMLS | C0017075 | E | validated | |
| MedDRA | 10017709 | 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:251934Mixed neuronal-glial tumor
rare neurological diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALK | Major susceptibility factor in | Assessed | HGNC:427 | ENSG00000171094 | 105590 | 2p23.2-p23.1 | ALK receptor tyrosine kinase | 20301782[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
16 annotations · validated 2016-10-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0003005 | Ganglioneuroma | Pathognomonic sign |
| Frequent (79-30%) | ||
| HP:0045026 | Abnormal mediastinum morphology | |
| HP:0000834 | Abnormality of the adrenal glands | |
| HP:0200063 | Colorectal polyposis | |
| HP:0005220 | Multiple intestinal neurofibromatosis | |
| Occasional (29-5%) | ||
| HP:0002574 | Episodic abdominal pain | |
| HP:0005249 | Functional intestinal obstruction | |
| HP:0004390 | Hamartomatous polyposis | |
| HP:0000822 | Hypertension | |
| HP:0100631 | Neoplasm of the adrenal gland | |
| Very rare (<4-1%) | ||
| HP:0003330 | Abnormal bone structure | |
| HP:0008775 | Abnormal prostate morphology | |
| HP:0000315 | Abnormality of the orbital region | |
| HP:0002034 | Abnormality of the rectum | |
| HP:0007110 | Central hypoventilation | |
| HP:0002239 | Gastrointestinal hemorrhage | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 2917322[PMID]_10421273[PMID]_15827098[PMID]_20427489[PMID]_17090203[PMID]_17404862[PMID]_17936435[PMID]_19204248[PMID]_19738538[PMID]_20452635[PMID]_1577976[PMID]_2752827[PMID]_10565651[PMID]_8344115[PMID]_26122142[PMID]_8080368[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251992
- This record as JSON: /data/d/251992.json