Abstract is: Multiple endocrine neoplasia type 2B is a genetic disease that causes multiple tumors on the mouth, eyes, and endocrine glands. It is the most severe type of multiple endocrine neoplasia, differentiated by the presence of benign oral and submucosal tumors in addition to endocrine malignancies. It was first described by Wagenmann in 1922, and was first recognized as a syndrome in 1965-1966 by E.D. Williams and D.J. Pollock. MEN 2B typically manifests before a child is 10 years old. Affected individuals tend to be tall and lanky, with an elongated face and protruding, blubbery lips. Benign tumors (neoplasms) develop in the mouth, eyes, and submucosa of almost all organs in the first decade of life.Medullary thyroid cancer almost always occurs, sometimes in infancy. It is often aggressive. Cancer of the adrenal glands (pheochromocytoma) occurs in 50% of cases. A variety of eponyms have been proposed for MEN 2B, such as Williams-Pollock syndrome, Gorlin-Vickers syndrome, and Wagenmann-Froboese syndrome. However, none ever gained sufficient traction to merit continued use, and they are no longer used in the medical literature. The prevalence of MEN2B is not well established, but has been derived from other epidemiological considerations as 1 in 600,000 to 1 in 4,000,000. The annual incidence has been estimated at 4 per 100 million per year.
rare disease | Q929833 |
class of disease | Q112193867 |
multiple endocrine neoplasia | Q1553018 |
autosomal dominant disease | Q18553439 |
inherited renal tumor | Q55785849 |
catecholamine-producing tumor | Q55788491 |
P699 | Disease Ontology ID | DOID:10016 |
P557 | DiseasesDB | 22784 |
P1417 | Encyclopædia Britannica Online ID | science/multiple-endocrine-neoplasia-type-2B |
P2888 | exact match | http://www.orpha.net/ORDO/Orphanet_653 |
http://identifiers.org/doid/DOID:10016 | ||
http://purl.obolibrary.org/obo/DOID_10016 | ||
http://www.orpha.net/ORDO/Orphanet_247709 | ||
P4317 | GARD rare disease ID | 10225 |
P4229 | ICD-10-CM | D44.8 |
E31.23 | ||
P1692 | ICD-9-CM | 237.4 |
258.03 | ||
P486 | MeSH descriptor ID | D018814 |
P672 | MeSH tree code | C04.588.322.400.510 |
C04.651.600.510 | ||
C04.700.630.510 | ||
C16.320.700.630.510 | ||
C19.344.400.510 | ||
P6366 | Microsoft Academic ID | 2779126167 |
2909751014 | ||
P5270 | Mondo ID | MONDO_0008082 |
P1748 | NCI Thesaurus ID | C3227 |
P492 | OMIM ID | 162300 |
162300 | ||
P1550 | Orphanet ID | 247709 |
P4233 | PatientsLikeMe condition ID | men2b |
P2892 | UMLS CUI | C0025269 |
P11430 | UniProt disease ID | DI-02009 |
P11143 | WikiProjectMed ID | Multiple endocrine neoplasia type 2B |
P2293 | genetic association | RET | Q18253720 |
P1995 | health specialty | endocrinology | Q162606 |
P5008 | on focus list of Wikimedia project | WikiProject Medicine | Q4099686 |
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Q18253720 | RET | genetic association | P2293 |
Arabic (ar / Q13955) | تكون الورم الصماوي المتعدد النوع 2 ب | wikipedia |
Multiple endocrine neoplasia type 2B | wikipedia | |
Множественная эндокринная неоплазия типа IIb | wikipedia | |
Множинна ендокринна неоплазія тип 2Б | wikipedia |
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