MCID: MLT159
MIFTS: 58

Multiple Endocrine Neoplasia, Type Iib

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Endocrine diseases, Neuronal diseases, Cancer diseases

Aliases & Classifications for Multiple Endocrine Neoplasia, Type Iib

MalaCards integrated aliases for Multiple Endocrine Neoplasia, Type Iib:

Name: Multiple Endocrine Neoplasia, Type Iib 57
Multiple Endocrine Neoplasia Type 2b 12 53 59 44 15 73
Wagenmann-Froboese Syndrome 57 12 53 59
Men2b 57 12 59 75
Multiple Endocrine Neoplasia, Type 2b 29 6
Multiple Endocrine Neoplasia Iib 57 13
Mucosal Neuroma Syndrome 12 53
Multiple Endocrine Neoplasia, Type Iii, Formerly; Men3, Formerly 57
Multiple Endocrine Neoplasia, Type Iii, Formerly 57
Neuromata, Mucosal, with Endocrine Tumors 57
Neoplasia, Endocrine, Multiple, Type Iib 40
Multiple Endocrine Neoplasia, Type 3 12
Multiple Endocrine Neoplasia Type 3 59
Multiple Neoplasia 2b 75
Men3, Formerly 57
Men Type Iib 12
Men Iib 57
Men 2b 53

Characteristics:

Orphanet epidemiological data:

59
multiple endocrine neoplasia type 2b
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
medullary thyroid cancer is aggressive and can occur in childhood
fifty percent of cases are sporadic


HPO:

32
multiple endocrine neoplasia, type iib:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Multiple Endocrine Neoplasia, Type Iib

NIH Rare Diseases : 53 Multiple endocrine neoplasia type 2B (MEN2B) is a genetic disease in which one or more of the endocrine glands are overactive and form a tumor (neoplasia). Common tumors that may be associated with MEN2B include medullary thyroid carcinoma (MTC) and tumors of the adrenal glands called pheochromocytomas. Other features of MEN2B can include having bumps on the lips, eyelids, and tongue. People with MEN2B typically have a body type with long arms, legs, and fingers. They may also have joints that are very loose (hyperextensible). MEN2B is caused by a specific genetic change (mutation or pathogenic variant) in the RET gene. The disease is inherited in an autosomal dominant manner. A diagnosis of MEN2B is suspected when a person has a personal or family history of medullary thyroid cancer, pheochromocytoma, or physical findings suggestive of MEN2B. The diagnosis can be confirmed with genetic testing. Treatment for MEN2B typically includes removal of the thyroid and screening for the development of additional tumors. There is another type of multiple endocrine neoplasia type 2 that causes an increased risk for medullary thyroid carcinoma and pheochromocytomas. This disease is known as multiple endocrine neoplasia type 2A (MEN2A).

MalaCards based summary : Multiple Endocrine Neoplasia, Type Iib, also known as multiple endocrine neoplasia type 2b, is related to neuroma and multiple endocrine neoplasia, type iia, and has symptoms including constipation and diarrhea. An important gene associated with Multiple Endocrine Neoplasia, Type Iib is RET (Ret Proto-Oncogene), and among its related pathways/superpathways are Signaling by GPCR and Axon guidance. The drugs Dulaglutide and Exenatide have been mentioned in the context of this disorder. Affiliated tissues include thyroid, tongue and testes, and related phenotypes are pectus excavatum and high palate

Disease Ontology : 12 An autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities.

OMIM : 57 Multiple endocrine neoplasia type IIB (MEN2B) is an autosomal dominant hamartoneoplastic syndrome characterized by aggressive medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuromas, and thickened corneal nerves. Most affected individuals have characteristic physical features, including full lips, thickened eyelids, high-arched palate, and marfanoid habitus. Other more variable features include skeletal anomalies and gastrointestinal problems (review by Morrison and Nevin, 1996). For a discussion of genetic heterogeneity of multiple endocrine neoplasia (MEN), see MEN1 (131100). (162300)

UniProtKB/Swiss-Prot : 75 Multiple neoplasia 2B: Uncommon inherited cancer syndrome characterized by predisposition to MTC and phaeochromocytoma which is associated with marfanoid habitus, mucosal neuromas, skeletal and ophthalmic abnormalities, and ganglioneuromas of the intestine tract. Then the disease progresses rapidly with the development of metastatic MTC and a pheochromocytome in 50% of cases.

Related Diseases for Multiple Endocrine Neoplasia, Type Iib

Diseases in the Multiple Endocrine Neoplasia family:

Multiple Endocrine Neoplasia, Type I Multiple Endocrine Neoplasia, Type Iib
Multiple Endocrine Neoplasia, Type Iia Multiple Endocrine Neoplasia, Type Iv

Diseases related to Multiple Endocrine Neoplasia, Type Iib via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 neuroma 30.7 CALCA GDNF RET
2 multiple endocrine neoplasia, type iia 30.4 CALCA GDNF GFRA1 MEN1 RET
3 multiple endocrine neoplasia 30.2 CALCA GDNF MEN1 RET
4 pheochromocytoma 29.7 CALCA GDNF MEN1 RET
5 thyroid carcinoma, familial medullary 29.2 CALCA EDNRB GDNF GFRA1 MEN1 OSMR
6 pancreatic somatostatinoma 10.6 CALCA MEN1
7 medullary sponge kidney 10.5 GDNF RET
8 hyperparathyroidism 2 with jaw tumors 10.5 MEN1 RET
9 hypoganglionosis 10.5 GDNF RET
10 pancreatic cholera 10.5 CALCA MEN1
11 multiple endocrine neoplasia, type iv 10.5 MEN1 RET
12 bullous impetigo 10.5 CALCA EDNRB
13 carcinoid syndrome 10.5 CALCA MEN1
14 waardenburg syndrome, type 4a 10.5 EDNRB RET
15 impetigo 10.5 CALCA EDNRB
16 islet cell tumor 10.4 CALCA MEN1
17 ectopic cushing syndrome 10.4 MEN1 RET
18 nodular goiter 10.4 CALCA RET
19 autonomic nervous system disease 10.4 CALCA EDNRB
20 lichen amyloidosis 10.4 OSMR RET
21 malignant struma ovarii 10.3 PTCH1 RET
22 brachial plexus lesion 10.3 CALCA GDNF
23 jejunoileitis 10.3 GDNF GFRA1
24 parathyroid gland disease 10.3 CALCA MEN1 RET
25 parathyroid carcinoma 10.3 CALCA MEN1 RET
26 parathyroid adenoma 10.3 CALCA MEN1 RET
27 pyloric stenosis 10.2 GDNF RET
28 primary hyperparathyroidism 10.2 CALCA MEN1 RET
29 hyperparathyroidism 10.2 CALCA MEN1 RET
30 mucositis 10.2
31 follicular adenoma 10.2 CALCA RET
32 breast papillary carcinoma 10.2 PTCH1 RET
33 intestinal pseudo-obstruction 10.2 EDNRB RET
34 goldberg-shprintzen syndrome 10.1 EDNRB GDNF RET
35 intestinal obstruction 10.1 EDNRB GDNF RET
36 multiple mucosal neuroma 10.1
37 central hypoventilation syndrome, congenital 10.1 EDNRB GDNF RET
38 cell type benign neoplasm 10.0 MEN1 RET
39 autosomal genetic disease 10.0 MEN1 PTCH1 RET
40 thyroiditis 9.8 CALCA RET
41 constipation 9.8 CALCA EDNRB GDNF RET
42 endocrine gland cancer 9.7 CALCA MEN1 PTCH1 RET
43 colonic disease 9.6 EDNRB GDNF GFRA1 RET
44 megacolon 9.6 EDNRB GDNF GFRA1 RET
45 hirschsprung disease 1 9.0 EDNRB GDNF GFRA1 PTCH1 RET
46 thyroid cancer, nonmedullary, 2 8.8 CALCA EDNRB GDNF MEN1 OSMR RET

Graphical network of the top 20 diseases related to Multiple Endocrine Neoplasia, Type Iib:



Diseases related to Multiple Endocrine Neoplasia, Type Iib

Symptoms & Phenotypes for Multiple Endocrine Neoplasia, Type Iib

Symptoms via clinical synopsis from OMIM:

57
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal Spine:
scoliosis
kyphosis
lordosis

Growth Other:
failure to thrive in infancy

Neoplasia:
pheochromocytoma
medullary thyroid carcinoma
ganglioneuroma
parathyroid disease rare

Endocrine Features:
parathyroid hyperplasia

Laboratory Abnormalities:
elevated calcitonin
pentagastrin stimulation test
increased urinary epinephrine

Head And Neck Mouth:
thick lips
high arched palate
neuromas of lips and tongue

Head And Neck Face:
coarse-appearing facies

Skin Nails Hair Skin:
flushing attacks

Abdomen Gastrointestinal:
constipation
diarrhea
ganglioneuroma
megacolon
colonic diverticulosis

Muscle Soft Tissue:
myopathy

Skeletal Feet:
pes cavus

Skeletal Limbs:
joint laxity
slipped capital femoral epiphyses

Head And Neck Neck:
nodular goiter

Neurologic Central Nervous System:
developmental delay
hypotonia

Growth Height:
marfanoid body habitus

Head And Neck Eyes:
pedunculated nodules on eyelid margins
eyelid and corneal neuromas
medullated corneal nerve fibers
thickened, anteverted eyelid
large, prominent eyebrow


Clinical features from OMIM:

162300

Human phenotypes related to Multiple Endocrine Neoplasia, Type Iib:

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 32 HP:0000767
2 high palate 32 HP:0000218
3 muscular hypotonia 32 HP:0001252
4 constipation 32 HP:0002019
5 scoliosis 32 HP:0002650
6 kyphosis 32 HP:0002808
7 hyperlordosis 32 HP:0003307
8 global developmental delay 32 HP:0001263
9 thick eyebrow 32 HP:0000574
10 myopathy 32 HP:0003198
11 thick lower lip vermilion 32 HP:0000179
12 failure to thrive in infancy 32 HP:0001531
13 high, narrow palate 32 HP:0002705
14 pes cavus 32 HP:0001761
15 aganglionic megacolon 32 HP:0002251
16 pheochromocytoma 32 HP:0002666
17 disproportionate tall stature 32 HP:0001519
18 joint laxity 32 HP:0001388
19 parathyroid hyperplasia 32 HP:0008208
20 diarrhea 32 HP:0002014
21 colonic diverticula 32 HP:0002253
22 abnormality of the skin 32 HP:0000951
23 generalized hypotonia 32 HP:0001290
24 medullary thyroid carcinoma 32 HP:0002865
25 ganglioneuroma 32 HP:0003005
26 elevated urinary epinephrine 32 HP:0003639
27 nodular goiter 32 HP:0005994
28 elevated calcitonin 32 HP:0003528
29 proximal femoral epiphysiolysis 32 HP:0006461

UMLS symptoms related to Multiple Endocrine Neoplasia, Type Iib:


constipation, diarrhea

MGI Mouse Phenotypes related to Multiple Endocrine Neoplasia, Type Iib:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 OSMR GFRA1 PTCH1 EDNRB NCK1 GDNF
2 cellular MP:0005384 10.02 NCK1 GDNF GFRA1 MEN1 EDNRB PTCH1
3 digestive/alimentary MP:0005381 10 GFRA1 PTCH1 EDNRB MEN1 GDNF RYK
4 growth/size/body region MP:0005378 9.97 GDNF OSMR PTCH1 MEN1 EDNRB NCK1
5 embryo MP:0005380 9.91 GFRA1 PTCH1 MEN1 EDNRB NCK1 RET
6 endocrine/exocrine gland MP:0005379 9.88 GDNF OSMR MEN1 EDNRB PTCH1 RET
7 immune system MP:0005387 9.87 GDNF OSMR GFRA1 MEN1 EDNRB PTCH1
8 mortality/aging MP:0010768 9.86 GDNF GFRA1 MEN1 EDNRB NCK1 RYK
9 muscle MP:0005369 9.63 GFRA1 PTCH1 MEN1 EDNRB GDNF RET
10 nervous system MP:0003631 9.5 NCK1 GDNF GFRA1 MEN1 EDNRB PTCH1
11 renal/urinary system MP:0005367 9.1 GFRA1 PTCH1 EDNRB NCK1 GDNF RET

Drugs & Therapeutics for Multiple Endocrine Neoplasia, Type Iib

Drugs for Multiple Endocrine Neoplasia, Type Iib (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dulaglutide Approved, Investigational 923950-08-7
2
Exenatide Approved, Investigational 141758-74-9 15991534
3
Liraglutide Approved 204656-20-2 44147092
4 glucagon
5 Glucagon-Like Peptide 1
6 rGLP-1 protein

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vandetanib to Treat Children and Adolescents With Medullary Thyroid Cancer Active, not recruiting NCT00514046 Phase 1, Phase 2 Vandetanib
2 Veliparib, Capecitabine, and Temozolomide in Patients With Advanced, Metastatic, and Recurrent Neuroendocrine Tumor Withdrawn NCT02831179 Phase 1 Capecitabine;Temozolomide;Veliparib
3 Study of Molecular Pathways in Medullary Thyroid Carcinoma and Correlation of Molecular Data With Clinical Behavior of the MTC in Individuals Patients Completed NCT01424878
4 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
5 Natural History Study of Children and Adults With Medullary Thyroid Cancer Recruiting NCT01660984
6 An Active Surveillance Program for Cases of Medullary Thyroid Carcinoma (MTC) Enrolling by invitation NCT01511393

Search NIH Clinical Center for Multiple Endocrine Neoplasia, Type Iib

Cochrane evidence based reviews: multiple endocrine neoplasia type 2b

Genetic Tests for Multiple Endocrine Neoplasia, Type Iib

Genetic tests related to Multiple Endocrine Neoplasia, Type Iib:

# Genetic test Affiliating Genes
1 Multiple Endocrine Neoplasia, Type 2b 29 RET

Anatomical Context for Multiple Endocrine Neoplasia, Type Iib

MalaCards organs/tissues related to Multiple Endocrine Neoplasia, Type Iib:

41
Thyroid, Tongue, Testes, Adrenal Gland, Colon, Skin, Kidney

Publications for Multiple Endocrine Neoplasia, Type Iib

Articles related to Multiple Endocrine Neoplasia, Type Iib:

(show top 50) (show all 80)
# Title Authors Year
1
Multiple Endocrine Neoplasia Type 2b (MEN2B) in a 9-Year-Old Female. ( 29709408 )
2018
2
Pregnancy on vandetanib in metastatic medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2B. ( 29457255 )
2018
3
Pediatric Multiple Endocrine Neoplasia Type 2B: Clinicopathological Correlation of Perilimbal Mucosal Neuromas and Treatment of Secondary Open-Angle Glaucoma. ( 29765955 )
2018
4
Diagnosis of multiple endocrine neoplasia type 2B and management of its ocular features. ( 29182461 )
2018
5
Composite paraganglioma-ganglioneuroma concomitant with adrenal metastasis of medullary thyroid carcinoma in a patient with multiple endocrine neoplasia type 2B: A case report. ( 27704704 )
2017
6
SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B. ( 26708403 )
2016
7
Characteristics of chronic megacolon among patients diagnosed with multiple endocrine neoplasia type 2B. ( 27403312 )
2016
8
Perioperative Severe Hypotension in a Patient with Multiple Endocrine Neoplasia Type IIb and Bilateral Adrenalectomies: Time to Review the Evidence for Stress Dose Steroids. ( 27900224 )
2016
9
In Vivo Confocal Microscopic Architecture of Corneal Nerves in a Case of Multiple Endocrine Neoplasia Type 2b. ( 27994400 )
2016
10
Laryngeal neuromas in a case of multiple endocrine neoplasia type 2B. ( 26535826 )
2015
11
Epidemiology, Clinical Features, and Genetics of Multiple Endocrine Neoplasia Type 2B in a Complete Population. ( 25355845 )
2014
12
Laryngeal neuroma in multiple endocrine neoplasia type 2B. ( 24389350 )
2014
13
Vandetanib in children and adolescents with multiple endocrine neoplasia type 2B associated medullary thyroid carcinoma. ( 23766359 )
2013
14
Novel 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. ( 23468374 )
2013
15
Coexistence of Multiple Endocrine Neoplasia Type 2B and Chilaiditi Sign: A Case Report. ( 23119190 )
2012
16
Multiple endocrine neoplasias type 2B and RET proto-oncogene. ( 22429913 )
2012
17
Abraham Lincoln's marfanoid mother: the earliest known case of multiple endocrine neoplasia type 2B? ( 22504423 )
2012
18
Positive selection for new disease mutations in the human germline: evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B. ( 22359510 )
2012
19
Multiple mucosal neuromas in the larynx as part of a multiple endocrine neoplasia type 2B. ( 23218252 )
2012
20
A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract. ( 23093970 )
2012
21
Ocular signs of multiple endocrine neoplasia type 2B (MEN2B). ( 22238409 )
2012
22
A family presenting with multiple endocrine neoplasia type 2B: A case report. ( 22185228 )
2011
23
Multiple 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. ( 21186952 )
2011
24
Single oligoarray-based detection of specific M918T mutation in RET oncogene in multiple endocrine neoplasia type 2B. ( 21253810 )
2011
25
Neural hyperplasia in maxillary bone of multiple endocrine neoplasia type 2B patient. ( 22099857 )
2011
26
Multiple endocrine neoplasia type 2B associated with malignant melanoma. ( 19958369 )
2010
27
Deeply seated tongue nodules. Multiple endocrine neoplasia, type 2B. ( 20829172 )
2010
28
Multiple Endocrine Neoplasia Type 2B: Early Diagnosis by Multiple Mucosal Neuroma and Its DNA Analysis. ( 21165219 )
2010
29
Ocular findings in a child with multiple endocrine neoplasia type 2b. ( 18825906 )
2008
30
Diabetes mellitus as a primary manifestation of multiple endocrine neoplasia type 2B. ( 19241927 )
2008
31
Early diagnosis of multiple endocrine neoplasia type 2B: a challenge for physicians. ( 19169500 )
2008
32
Choroidal metastases in multiple endocrine neoplasia type 2B. ( 17244227 )
2007
33
Dental rehabilitation of the patient with multiple endocrine neoplasia Type 2b. ( 17899721 )
2007
34
Multiple endocrine neoplasia type 2b associated with lichen nitidus. ( 17540634 )
2007
35
Classic features of multiple endocrine neoplasia type 2B. ( 17296909 )
2007
36
Oral Mucosal Neuromas Leading to the Diagnosis of Multiple Endocrine Neoplasia Type 2B in a Child With Intestinal Pseudo-obstruction. ( 21960833 )
2007
37
RET is constitutively activated by novel tandem mutations that alter the active site resulting in multiple endocrine neoplasia type 2B. ( 17047083 )
2006
38
Phenotypic multiple endocrine neoplasia type 2B, without endocrinopathy or RET gene mutation: implications for management. ( 16839263 )
2006
39
De novo multiple endocrine neoplasia type 2B with noncardiogenic pulmonary edema as the presenting symptom. ( 16829704 )
2006
40
Multiple endocrine neoplasia type 2B diagnosed on suction rectal biopsy in infancy: a report of 2 cases. ( 16808642 )
2006
41
A 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-deficient mice. ( 15632018 )
2005
42
Case report: multiple endocrine neoplasia type 2B misdiagnosed as familial dysautonomia. ( 15839834 )
2005
43
Iodine 123 metaiodobenzylguanidine radio-guided navigation surgery for recurrent medullary thyroid carcinoma in a girl with multiple endocrine neoplasia type 2B. ( 16226999 )
2005
44
Multiple endocrine neoplasia type 2B and Hirschsprung's disease. ( 15880310 )
2005
45
Prostatic neuroendocrine tumor in multiple endocrine neoplasia Type 2B. ( 15717656 )
2004
46
Diagnostic and therapeutic approach to multiple endocrine neoplasia type 2B in pediatric patients. ( 12415360 )
2002
47
Increased in vivo phosphorylation of ret tyrosine 1062 is a potential pathogenetic mechanism of multiple endocrine neoplasia type 2B. ( 11245446 )
2001
48
Multiple endocrine neoplasia type 2B mutation in human RET oncogene induces medullary thyroid carcinoma in transgenic mice. ( 10871866 )
2000
49
Multiple endocrine neoplasia type 2B--genetic basis and clinical expression. ( 11356339 )
2000
50
A two-hit model for development of multiple endocrine neoplasia type 2B by RET mutations. ( 10679286 )
2000

Variations for Multiple Endocrine Neoplasia, Type Iib

UniProtKB/Swiss-Prot genetic disease variations for Multiple Endocrine Neoplasia, Type Iib:

75
# Symbol AA change Variation ID SNP ID
1 RET p.Met918Thr VAR_006342 rs74799832
2 RET p.Thr946Met VAR_006345
3 RET p.Ala883Phe VAR_009485 rs377767429

ClinVar genetic disease variations for Multiple Endocrine Neoplasia, Type Iib:

6
(show top 50) (show all 108)
# Gene Variation Type Significance SNP ID Assembly Location
1 RET NM_020975.4(RET): c.1901G> A (p.Cys634Tyr) single nucleotide variant Pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
2 RET NM_020975.4(RET): c.1901G> A (p.Cys634Tyr) single nucleotide variant Pathogenic rs75996173 GRCh38 Chromosome 10, 43114501: 43114501
3 RET NM_020630.4(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
4 RET NM_020630.4(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic rs77503355 GRCh38 Chromosome 10, 43113655: 43113655
5 RET NM_020975.4(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic rs75076352 GRCh37 Chromosome 10, 43609948: 43609948
6 RET NM_020975.4(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic rs75076352 GRCh38 Chromosome 10, 43114500: 43114500
7 RET NM_020630.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic rs77709286 GRCh37 Chromosome 10, 43609950: 43609950
8 RET NM_020630.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic rs77709286 GRCh38 Chromosome 10, 43114502: 43114502
9 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
10 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh38 Chromosome 10, 43121968: 43121968
11 RET NM_020630.4(RET): c.1859G> T (p.Cys620Phe) single nucleotide variant Pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
12 RET NM_020630.4(RET): c.1859G> T (p.Cys620Phe) single nucleotide variant Pathogenic rs77503355 GRCh38 Chromosome 10, 43113655: 43113655
13 RET NM_020630.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic rs76262710 GRCh37 Chromosome 10, 43609096: 43609096
14 RET NM_020630.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic rs76262710 GRCh38 Chromosome 10, 43113648: 43113648
15 RET NM_020630.4(RET): c.2304G> C (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh37 Chromosome 10, 43613840: 43613840
16 RET NM_020630.4(RET): c.2304G> C (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh38 Chromosome 10, 43118392: 43118392
17 RET NM_020975.4(RET): c.1826G> A (p.Cys609Tyr) single nucleotide variant Pathogenic rs77939446 GRCh37 Chromosome 10, 43609070: 43609070
18 RET NM_020975.4(RET): c.1826G> A (p.Cys609Tyr) single nucleotide variant Pathogenic rs77939446 GRCh38 Chromosome 10, 43113622: 43113622
19 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh37 Chromosome 10, 43620335: 43620335
20 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh38 Chromosome 10, 43124887: 43124887
21 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
22 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic rs79658334 GRCh38 Chromosome 10, 43119548: 43119548
23 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic rs75234356 GRCh37 Chromosome 10, 43615592: 43615592
24 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic rs75234356 GRCh38 Chromosome 10, 43120144: 43120144
25 RET NM_020975.4(RET): c.1853G> A (p.Cys618Tyr) single nucleotide variant Pathogenic rs79781594 GRCh37 Chromosome 10, 43609097: 43609097
26 RET NM_020975.4(RET): c.1853G> A (p.Cys618Tyr) single nucleotide variant Pathogenic rs79781594 GRCh38 Chromosome 10, 43113649: 43113649
27 RET NM_020630.4(RET): c.1888T> C (p.Cys630Arg) single nucleotide variant Pathogenic rs377767404 GRCh37 Chromosome 10, 43609936: 43609936
28 RET NM_020630.4(RET): c.1888T> C (p.Cys630Arg) single nucleotide variant Pathogenic rs377767404 GRCh38 Chromosome 10, 43114488: 43114488
29 RET NM_020630.4(RET): c.2304G> T (p.Glu768Asp) single nucleotide variant Likely pathogenic rs78014899 GRCh37 Chromosome 10, 43613840: 43613840
30 RET NM_020630.4(RET): c.2304G> T (p.Glu768Asp) single nucleotide variant Likely pathogenic rs78014899 GRCh38 Chromosome 10, 43118392: 43118392
31 RET NM_020630.4(RET): c.2410G> C (p.Val804Leu) single nucleotide variant Pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
32 RET NM_020630.4(RET): c.2410G> C (p.Val804Leu) single nucleotide variant Pathogenic rs79658334 GRCh38 Chromosome 10, 43119548: 43119548
33 RET NM_020975.4(RET): c.2647_2648delGCinsTT (p.Ala883Phe) indel Pathogenic/Likely pathogenic rs377767429 GRCh37 Chromosome 10, 43615568: 43615569
34 RET NM_020975.4(RET): c.2647_2648delGCinsTT (p.Ala883Phe) indel Pathogenic/Likely pathogenic rs377767429 GRCh38 Chromosome 10, 43120120: 43120121
35 RET NM_020630.4(RET): c.539G> A (p.Arg180Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs370736139 GRCh37 Chromosome 10, 43597991: 43597991
36 RET NM_020630.4(RET): c.539G> A (p.Arg180Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs370736139 GRCh38 Chromosome 10, 43102543: 43102543
37 RET NM_020630.4(RET): c.2081G> A (p.Arg694Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs141185224 GRCh37 Chromosome 10, 43610129: 43610129
38 RET NM_020630.4(RET): c.2081G> A (p.Arg694Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs141185224 GRCh38 Chromosome 10, 43114681: 43114681
39 RET NM_020975.4(RET): c.225G> A (p.Thr75=) single nucleotide variant Benign/Likely benign rs151267865 GRCh37 Chromosome 10, 43596058: 43596058
40 RET NM_020975.4(RET): c.225G> A (p.Thr75=) single nucleotide variant Benign/Likely benign rs151267865 GRCh38 Chromosome 10, 43100610: 43100610
41 RET NM_020975.4(RET): c.604G> A (p.Val202Met) single nucleotide variant Uncertain significance rs751572082 GRCh37 Chromosome 10, 43598056: 43598056
42 RET NM_020975.4(RET): c.604G> A (p.Val202Met) single nucleotide variant Uncertain significance rs751572082 GRCh38 Chromosome 10, 43102608: 43102608
43 RET NM_020975.4(RET): c.1197G> A (p.Pro399=) single nucleotide variant Benign/Likely benign rs148371113 GRCh37 Chromosome 10, 43604612: 43604612
44 RET NM_020975.4(RET): c.1197G> A (p.Pro399=) single nucleotide variant Benign/Likely benign rs148371113 GRCh38 Chromosome 10, 43109164: 43109164
45 RET NM_020975.4(RET): c.2225C> T (p.Thr742Met) single nucleotide variant Uncertain significance rs773256580 GRCh37 Chromosome 10, 43612120: 43612120
46 RET NM_020975.4(RET): c.2225C> T (p.Thr742Met) single nucleotide variant Uncertain significance rs773256580 GRCh38 Chromosome 10, 43116672: 43116672
47 RET NM_020975.5(RET): c.3253A> G (p.Thr1085Ala) single nucleotide variant Uncertain significance rs756465544 GRCh37 Chromosome 10, 43623625: 43623625
48 RET NM_020975.5(RET): c.3253A> G (p.Thr1085Ala) single nucleotide variant Uncertain significance rs756465544 GRCh38 Chromosome 10, 43128177: 43128177
49 RET NM_020975.4(RET): c.262A> G (p.Ile88Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141679950 GRCh37 Chromosome 10, 43596095: 43596095
50 RET NM_020975.4(RET): c.262A> G (p.Ile88Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141679950 GRCh38 Chromosome 10, 43100647: 43100647

Expression for Multiple Endocrine Neoplasia, Type Iib

Search GEO for disease gene expression data for Multiple Endocrine Neoplasia, Type Iib.

Pathways for Multiple Endocrine Neoplasia, Type Iib

Pathways related to Multiple Endocrine Neoplasia, Type Iib according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 CALCA EDNRB GDNF GFRA1 MEN1 NCK1
2 11.74 NCK1 PTCH1 RYK
3
Show member pathways
11.34 GDNF GFRA1 NCK1 RET
4 10.97 GDNF GFRA1
5 10.9 CALCA EDNRB
6 10.9 GDNF GFRA1 RET
7 10.5 GDNF GFRA1 NCK1 RET

GO Terms for Multiple Endocrine Neoplasia, Type Iib

Cellular components related to Multiple Endocrine Neoplasia, Type Iib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.8 GFRA1 RET RYK

Biological processes related to Multiple Endocrine Neoplasia, Type Iib according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.99 EDNRB GDNF GFRA1 PTCH1 RET RYK
2 negative regulation of apoptotic process GO:0043066 9.78 EDNRB GDNF RET RYK
3 nervous system development GO:0007399 9.76 EDNRB GDNF GFRA1 RET
4 MAPK cascade GO:0000165 9.67 GDNF GFRA1 MEN1 RET
5 axon guidance GO:0007411 9.62 GDNF GFRA1 RET RYK
6 branching involved in ureteric bud morphogenesis GO:0001658 9.55 GDNF PTCH1
7 negative regulation of osteoblast differentiation GO:0045668 9.54 MEN1 PTCH1
8 ureteric bud development GO:0001657 9.52 GDNF RET
9 peripheral nervous system development GO:0007422 9.49 EDNRB GDNF
10 vasodilation GO:0042311 9.43 CALCA EDNRB
11 neural crest cell migration GO:0001755 9.43 EDNRB GDNF RET
12 commissural neuron axon guidance GO:0071679 9.4 PTCH1 RYK
13 posterior midgut development GO:0007497 9.16 EDNRB RET
14 response to pain GO:0048265 9.13 CALCA EDNRB RET
15 enteric nervous system development GO:0048484 8.8 EDNRB GDNF RET

Molecular functions related to Multiple Endocrine Neoplasia, Type Iib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.26 CALCA GDNF GFRA1 NCK1
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.16 RET RYK
3 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.8 GDNF GFRA1 RET

Sources for Multiple Endocrine Neoplasia, Type Iib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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