multiple endocrine neoplasia type 2B

autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities

DBpedia resource is: http://dbpedia.org/resource/Multiple_endocrine_neoplasia_type_2B

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.

multiple endocrine neoplasia type 2B is …
instance of (P31):
rare diseaseQ929833
class of diseaseQ112193867

sublass of (P279):
multiple endocrine neoplasiaQ1553018
autosomal dominant diseaseQ18553439
inherited renal tumorQ55785849
catecholamine-producing tumorQ55788491

External links are
P699Disease Ontology IDDOID:10016
P557DiseasesDB22784
P1417Encyclopædia Britannica Online IDscience/multiple-endocrine-neoplasia-type-2B
P2888exact matchhttp://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
P4317GARD rare disease ID10225
P4229ICD-10-CMD44.8
E31.23
P1692ICD-9-CM237.4
258.03
P486MeSH descriptor IDD018814
P672MeSH tree codeC04.588.322.400.510
C04.651.600.510
C04.700.630.510
C16.320.700.630.510
C19.344.400.510
P6366Microsoft Academic ID2779126167
2909751014
P5270Mondo IDMONDO_0008082
P1748NCI Thesaurus IDC3227
P492OMIM ID162300
162300
P1550Orphanet ID247709
P4233PatientsLikeMe condition IDmen2b
P2892UMLS CUIC0025269
P11430UniProt disease IDDI-02009
P11143WikiProjectMed IDMultiple endocrine neoplasia type 2B

P2293genetic associationRETQ18253720
P1995health specialtyendocrinologyQ162606
P5008on focus list of Wikimedia projectWikiProject MedicineQ4099686

Reverse relations

medical condition (P1050)
Q64634650Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Q64170974Sorafenib Tosylate in Treating Patients With Metastatic, Locally Advanced, or Recurrent Medullary Thyroid Cancer
Q61978915Vandetanib to Treat Children and Adolescents With Medullary Thyroid Cancer
Q66398124Veliparib, Capecitabine, and Temozolomide in Patients With Advanced, Metastatic, and Recurrent Neuroendocrine Tumor

established from medical condition (P5166)
Q54845200GM11629
Q54950201RG-424
Q54991782UPSFRi010-A

main subject (P921)
Q42424055A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract.
Q73901379A case of multiple endocrine neoplasia type 2B
Q77223246A case of multiple endocrine neoplasia type 2B undiagnosed for many years despite its typical phenotype
Q45844403A case report of multiple endocrine neoplasia type 2b
Q41587899A family presenting with multiple endocrine neoplasia type 2B: A case report
Q35083569A human yeast artificial chromosome containing the multiple endocrine neoplasia type 2B Ret mutation does not induce medullary thyroid carcinoma but does support the growth of kidneys and partially rescues enteric nervous system development in Ret-d
Q55670928A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma
Q42805322A two-hit model for development of multiple endocrine neoplasia type 2B by RET mutations
Q70751228Abnormal Cutaneous Innervation in Multiple Endocrine Neoplasia, Type 2b
Q67658839Alimentary tract manifestations of multiple endocrine neoplasia, type 2b
Q67839742Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia, type 2b
Q94553739Anesthesia Management for Pediatric Patient With Multiple Endocrine Neoplasia Type 2B: A Case Report
Q97899032Anterior segment optical coherence tomography, in vivo confocal microscopy, histopathologic, and immunohistochemical findings in a patient with multiple endocrine neoplasia type 2b
Q78121390Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma
Q34663635C-cell hyperplasia, pheochromocytoma and sympathoadrenal malformation in a mouse model of multiple endocrine neoplasia type 2B
Q64041264Careful investigation of a rare disease: insights into multiple endocrine neoplasia type 2B
Q81665533Case report: multiple endocrine neoplasia type 2B misdiagnosed as familial dysautonomia
Q79629536Choroidal metastases in multiple endocrine neoplasia type 2B
Q79766072Classic features of multiple endocrine neoplasia type 2B
Q36355221Coexistence of Multiple Endocrine Neoplasia Type 2B and Chilaiditi Sign: A Case Report
Q73017689Colonic manifestations of multiple endocrine neoplasia type 2B: report of four cases
Q88485964Composite paraganglioma-ganglioneuroma concomitant with adrenal metastasis of medullary thyroid carcinoma in a patient with multiple endocrine neoplasia type 2B: A case report
Q57200600Constipation as the Presenting Symptom in De Novo Multiple Endocrine Neoplasia Type 2B
Q87898006Cushing Disease in a patient with Multiple Endocrine Neoplasia type 2B
Q72537168Cutaneous neuropathology in multiple endocrine neoplasia, type 2b
Q73214158De novo RET proto-oncogene mutation in a patient with multiple endocrine neoplasia type 2B
Q79864801De novo multiple endocrine neoplasia type 2B with noncardiogenic pulmonary edema as the presenting symptom
Q85007097Deeply seated tongue nodules. Multiple endocrine neoplasia, type 2B
Q83394755Diabetes mellitus as a primary manifestation of multiple endocrine neoplasia type 2B
Q49043251Diagnosis of multiple endocrine neoplasia type 2B and management of its ocular features.
Q52029160Diagnostic and therapeutic approach to multiple endocrine neoplasia type 2B in pediatric patients.
Q72543922Early diagnosis and thyroidectomy in multiple endocrine neoplasia, type 2b
Q54770857Early diagnosis of multiple endocrine neoplasia type 2B: a challenge for physicians.
Q34641074Epidemiology, clinical features, and genetics of multiple endocrine neoplasia type 2B in a complete population
Q44917922Expression profiles provide insights into early malignant potential and skeletal abnormalities in multiple endocrine neoplasia type 2B syndrome tumors.
Q80391504External ophthalmic findings in multiple endocrine neoplasia type 2B
Q43809602Familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2B map to the same region of chromosome 10 as multiple endocrine neoplasia type 2A
Q43445281Genetics of the multiple endocrine neoplasia type 2B syndrome
Q71833695Germ line mutation in the RET proto-oncogene associated with familial multiple endocrine neoplasia type 2B: a case report
Q73853184Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation
Q92791900In Vivo Confocal Microscopy of Prominent Conjunctival and Corneal Nerves in Multiple Endocrine Neoplasia Type 2B
Q35355896Intestinal ganglioneuromatosis and multiple endocrine neoplasia type 2B: implications for treatment
Q74091944Iodine-131 MIBG imaging in multiple endocrine neoplasia type 2B
Q87034036Laryngeal neuroma in multiple endocrine neoplasia type 2B
Q95473617Laryngeal neuromas in a case of multiple endocrine neoplasia type 2B
Q54376299Linkage of the multiple endocrine neoplasia type 2B gene (MEN2B) to chromosome 10 markers linked to MEN2A.
Q47702762Long-Term Survivorship in Multiple Endocrine Neoplasia Type 2B Diagnosed Before and in the New Millennium
Q41377716Malignant pheochromocytoma in multiple endocrine neoplasia type 2B syndrome. Case report and review of the literature.
Q40624191Mapping the inherited defects associated with multiple endocrine neoplasia type 2A, multiple endocrine neoplasia type 2B, and familial medullary thyroid carcinoma to chromosome 10 by linkage analysis
Q42516531Medullary thyroid carcinoma as part of a multiple endocrine neoplasia type 2B syndrome: influence of the stage on the clinical course
Q90009011Megacolon as the presenting feature of multiple endocrine neoplasia type 2B: a case report
Q99353111Molecular diagnosis and treatment of multiple endocrine neoplasia type 2B in Ethnic Han Chinese
Q66852784Mucosal ganglioneuromatosis, medullary thyroid carcinoma, and pheochromocytoma: multiple endocrine neoplasia, type 2b
Q57480447Multiple Endocrine Neoplasia Type 2B Presents Early in Childhood but Often Is Undiagnosed for Years
Q96129698Multiple Endocrine Neoplasia Type 2B Syndrome (Clinical image)
Q52953404Multiple Endocrine Neoplasia Type 2B Unmasked by 18 F-FDG PET/CT and 131 I-MIBG SPECT/CT.
Q41522198Multiple Endocrine Neoplasia Type 2B: Early Diagnosis by Multiple Mucosal Neuroma and Its DNA Analysis
Q88514393Multiple Endocrine Neoplasia Type 2b (MEN2B) in a 9-Year-Old Female
Q97520780Multiple Endocrine Neoplasia Type 2b Associated Mixed Medullary and Follicular Thyroid Carcinoma in A Chinese Patient with RET M918T Germline Mutation
Q24517917Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome)
Q36119799Multiple endocrine neoplasia type 2B and Hirschsprung's disease
Q54706047Multiple endocrine neoplasia type 2B associated with malignant melanoma.
Q80551028Multiple endocrine neoplasia type 2B caused by a single point mutation in RET proto-oncogene in a Chinese patient
Q79813985Multiple endocrine neoplasia type 2B diagnosed on suction rectal biopsy in infancy: a report of 2 cases
Q47385828Multiple endocrine neoplasia type 2B in a Chinese patient
Q73934811Multiple endocrine neoplasia type 2B mutation in human RET oncogene induces medullary thyroid carcinoma in transgenic mice
Q34511708Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation displays a more indolent form of medullary thyroid carcinoma compared with a RET M918T mutation
Q91275960Multiple endocrine neoplasia type 2B: Frequency of physical stigmata-Results of the GPOH-MET registry
Q34245518Multiple endocrine neoplasia type 2B: eighteen-year follow-up of a four-generation family
Q38278190Multiple endocrine neoplasia type 2B: maxillofacial significance in 5 cases
Q71568258Multiple endocrine neoplasia type 2B: more than an endocrine disorder
Q54115946Multiple endocrine neoplasia type 2b (MEN 2b). Report of 2 pediatric cases
Q80411635Multiple endocrine neoplasia type 2b associated with lichen nitidus
Q54280266Multiple endocrine neoplasia type 2b in twins.
Q69900627Multiple endocrine neoplasia type 2b with a good prognosis
Q41854590Multiple endocrine neoplasia type 2b: long-term follow-up of a case.
Q66873797Multiple endocrine neoplasia, type 2B, with medullary thyroid carcinoma: a diagnostic potential for dentistry
Q72568447Multiple endocrine neoplasia, type 2b, as a cause of megacolon
Q34235599Multiple endocrine neoplasia, type 2b: phenotype recognition; neurological features and their pathological basis
Q36012582Multiple endocrine neoplasias type 2B and RET proto-oncogene.
Q34436764Multiple idiopathic mucosal neuromas: a minor form of multiple endocrine neoplasia type 2B or a new entity?
Q74108152Mutation of RET proto-oncogene in Japanese patients with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma
Q91123907Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study
Q54548838Neural hyperplasia in maxillary bone of multiple endocrine neoplasia type 2B patient.
Q71336753No mutation at codon 918 of the RET gene in a family with multiple endocrine neoplasia type 2B
Q38087307Novel tandem germline RET proto-oncogene mutations in a patient with multiple endocrine neoplasia type 2B: report of a case and a literature review of tandem RET mutations with in silico analysis
Q70782640Ocular Histopathology in Multiple Endocrine Neoplasia Type 2b
Q82120093Ocular findings in a child with multiple endocrine neoplasia type 2b
Q77198422Ocular manifestations in multiple endocrine neoplasia type 2b
Q83216136Ocular signs of multiple endocrine neoplasia type 2B (MEN2B)
Q42737292Oral Mucosal Neuromas Leading to the Diagnosis of Multiple Endocrine Neoplasia Type 2B in a Child With Intestinal Pseudo-obstruction.
Q24672503Parent-of-origin effects in multiple endocrine neoplasia type 2B
Q88686569Pediatric Multiple Endocrine Neoplasia Type 2B: Clinicopathological Correlation of Perilimbal Mucosal Neuromas and Treatment of Secondary Open-Angle Glaucoma
Q62000553Phenotypic Multiple Endocrine Neoplasia Type 2B, Without Endocrinopathy or RET Gene Mutation: Implications for Management
Q90975917Pheochromocytoma in Children and Adolescents With Multiple Endocrine Neoplasia Type 2B
Q48085475Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours
Q28480870Positive selection for new disease mutations in the human germline: evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B
Q30818388Prolonged survival of a patient with multiple endocrine neoplasia type 2b and stage IV medullary thyroid carcinoma
Q102323538Prophylactic neck surgery for second-generation multiple endocrine neoplasia type 2B
Q81413339Prostatic neuroendocrine tumor in multiple endocrine neoplasia Type 2B
Q71775732Relationship of familial prominent corneal nerves and lesions of the tongue resembling neuromas to multiple endocrine neoplasia type 2B
Q72782499Relatively good prognosis of multiple endocrine neoplasia type 2B in Japanese: review of cases in Japan and analysis of genetic changes in tumors
Q96810716Severe constipation as the first clinical manifestation in multiple endocrine neoplasia type 2B: a case report and literature review
Q28776010Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B
Q83257999Single oligoarray-based detection of specific M918T mutation in RET oncogene in multiple endocrine neoplasia type 2B
Q74103363Temporal bone findings in multiple endocrine neoplasia type 2B
Q91089078The Reality of Multiple Endocrine Neoplasia Type 2B Diagnosis: Awareness of Unique Physical Appearance Is Important
Q36798001The multiple endocrine neoplasia type 2B point mutation alters long-term regulation and enhances the transforming capacity of the epidermal growth factor receptor
Q57584934The multiple endocrine neoplasia type 2B point mutation switches the specificity of the Ret tyrosine kinase towards cellular substrates that are susceptible to interact with Crk and Nck
Q55129577Two germline missense mutations at codons 804 and 806 of the RET proto-oncogene in the same allele in a patient with multiple endocrine neoplasia type 2B without codon 918 mutation.
Q74302755Typical ocular findings in a patient with multiple endocrine neoplasia type 2b syndrome
Q69367143Valvular prolapse and great vessel dilatation in multiple endocrine neoplasia type 2B
Q34757990Vandetanib in children and adolescents with multiple endocrine neoplasia type 2B associated medullary thyroid carcinoma
Q95537366[A case of multiple endocrine neoplasia type 2B]
Q81790053[Composite pheochromocytoma associated with multiple endocrine neoplasia type 2B]
Q84079032[Lumboscopic adrenalectomy for pheochromocytoma in a patient with multiple endocrine neoplasia type 2B]
Q85632859[Multiple mucosal neuromas in the larynx as part of a multiple endocrine neoplasia type 2B]
Q83850528[Ocular features of multiple endocrine neoplasia type 2b]

Q18253720RETgenetic associationP2293

The articles in Wikimedia projects and languages

Arabic (ar / Q13955)تكون الورم الصماوي المتعدد النوع 2 بwikipedia
      Multiple endocrine neoplasia type 2Bwikipedia
      Множественная эндокринная неоплазия типа IIbwikipedia
      Множинна ендокринна неоплазія тип 2Бwikipedia

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