MEN2B
MCID: MLT159
MIFTS: 60

Multiple Endocrine Neoplasia, Type Iib (MEN2B)

Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare 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 thyroid carcinoma, familial medullary 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 Cushing syndrome. The drugs Nicotinamide and Sorafenib 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 top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 thyroid carcinoma, familial medullary 31.3 RET OSMR MEN1 GFRA1 GDNF EDNRB
2 multiple endocrine neoplasia, type iia 31.3 RET MEN1 GFRA1 GDNF CALCA
3 neuroma 30.7 RET GDNF CALCA
4 multiple endocrine neoplasia 30.2 RET MEN1 GDNF CDKN1B CALCA
5 megacolon 30.2 RET GFRA1 GDNF EDNRB
6 intestinal pseudo-obstruction 30.1 RET EDNRB
7 pheochromocytoma 30.0 RET MEN1 GDNF CALCA
8 constipation 30.0 RET GDNF EDNRB CALCA
9 thyroid cancer 29.4 RET GFRA1 GDNF CDKN1B CALCA
10 thyroid gland disease 10.2 RET CALCA
11 pancreatic somatostatinoma 10.2 MEN1 CALCA
12 medullary sponge kidney 10.2 RET GDNF
13 hyperparathyroidism 2 with jaw tumors 10.2 RET MEN1
14 pancreatic cholera 10.2 MEN1 CALCA
15 bullous impetigo 10.2 EDNRB CALCA
16 hypoganglionosis 10.2 RET GDNF
17 familial isolated hyperparathyroidism 10.2 RET MEN1
18 impetigo 10.2 EDNRB CALCA
19 oligomeganephronia 10.2 RET GDNF
20 carcinoid syndrome 10.2 MEN1 CALCA
21 nemaline myopathy 2 10.2 RET CALCA
22 waardenburg syndrome, type 4a 10.1 RET EDNRB
23 nodular goiter 10.1 RET CALCA
24 ectopic cushing syndrome 10.1 RET MEN1
25 autonomic nervous system disease 10.1 EDNRB CALCA
26 lichen amyloidosis 10.1 RET OSMR
27 amyloidosis, primary localized cutaneous, 1 10.1 RET OSMR
28 islet cell tumor 10.1 MEN1 CALCA
29 brachial plexus lesion 10.1 GDNF CALCA
30 parathyroid gland disease 10.1 RET MEN1 CALCA
31 jejunoileitis 10.1 GFRA1 GDNF
32 parathyroid carcinoma 10.1 RET MEN1 CALCA
33 endocrine organ benign neoplasm 10.1 RET MEN1 CALCA
34 pyelonephritis 10.1
35 depression 10.1
36 causalgia 10.1 GDNF CALCA
37 parathyroid adenoma 10.1 RET MEN1 CALCA
38 pituitary adenoma 4, acth-secreting 10.1
39 neuropathy, hereditary sensory and autonomic, type iii 10.1
40 diabetes mellitus 10.1
41 familial adenomatous polyposis 10.1
42 paraganglioma 10.1
43 adrenal gland pheochromocytoma 10.1
44 malignant pheochromocytoma 10.1
45 open-angle glaucoma 10.1
46 pulmonary edema 10.1
47 neuroendocrine tumor 10.1
48 melanoma 10.1
49 ganglioneuroma 10.1
50 multiple mucosal neuroma 10.1

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

Skeletal Limbs:
joint laxity
slipped capital femoral epiphyses

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

Neoplasia:
pheochromocytoma
medullary thyroid carcinoma
ganglioneuroma
parathyroid disease rare

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 joint laxity 32 HP:0001388
16 aganglionic megacolon 32 HP:0002251
17 pheochromocytoma 32 HP:0002666
18 disproportionate tall stature 32 HP:0001519
19 parathyroid hyperplasia 32 HP:0008208
20 diarrhea 32 HP:0002014
21 colonic diverticula 32 HP:0002253
22 generalized hypotonia 32 HP:0001290
23 abnormality of the skin 32 HP:0000951
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
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 CDKN1B EDNRB GDNF GFRA1 NCK1 OSMR
2 cellular MP:0005384 10 CDKN1B EDNRB GDNF GFRA1 MEN1 NCK1
3 digestive/alimentary MP:0005381 9.91 CDKN1B EDNRB GDNF GFRA1 MEN1 RET
4 embryo MP:0005380 9.88 CDKN1B EDNRB GFRA1 MEN1 NCK1 RET
5 growth/size/body region MP:0005378 9.87 CDKN1B EDNRB GDNF MEN1 NCK1 OSMR
6 endocrine/exocrine gland MP:0005379 9.85 CDKN1B EDNRB GDNF MEN1 OSMR RET
7 immune system MP:0005387 9.8 CDKN1B EDNRB GDNF GFRA1 MEN1 OSMR
8 muscle MP:0005369 9.63 CDKN1B EDNRB GDNF GFRA1 MEN1 RET
9 nervous system MP:0003631 9.5 CDKN1B EDNRB GDNF GFRA1 MEN1 NCK1
10 renal/urinary system MP:0005367 9.1 CDKN1B EDNRB GDNF GFRA1 NCK1 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 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
2
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
3
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
4
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
5 Vitamins Phase 2
6 Nicotinic Acids Phase 2
7 Vitamin B9 Phase 2
8 Trace Elements Phase 2
9 Vitamin B3 Phase 2
10 Folate Phase 2
11 Protein Kinase Inhibitors Phase 2
12 Vitamin B Complex Phase 2
13 Micronutrients Phase 2

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 Sorafenib Tosylate in Treating Patients With Metastatic, Locally Advanced, or Recurrent Medullary Thyroid Cancer Active, not recruiting NCT00390325 Phase 2 Sorafenib Tosylate
3 Veliparib, Capecitabine, and Temozolomide in Patients With Advanced, Metastatic, and Recurrent Neuroendocrine Tumor Withdrawn NCT02831179 Phase 1 Capecitabine;Temozolomide;Veliparib
4 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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 130)
# Title Authors Year
1
Pheochromocytoma in Children and Adolescents With Multiple Endocrine Neoplasia Type 2B. ( 30113649 )
2019
2
Multiple Endocrine Neoplasia Type 2b (MEN2B) in a 9-Year-Old Female. ( 29709408 )
2018
3
Pregnancy on vandetanib in metastatic medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2B. ( 29457255 )
2018
4
Pediatric Multiple Endocrine Neoplasia Type 2B: Clinicopathological Correlation of Perilimbal Mucosal Neuromas and Treatment of Secondary Open-Angle Glaucoma. ( 29765955 )
2018
5
Long-Term Survivorship in Multiple Endocrine Neoplasia Type 2B Diagnosed Before and in the New Millennium. ( 29077903 )
2018
6
Diagnosis of multiple endocrine neoplasia type 2B and management of its ocular features. ( 29182461 )
2018
7
The Reality of Multiple Endocrine Neoplasia Type 2B Diagnosis: Awareness of Unique Physical Appearance Is Important. ( 30135345 )
2018
8
Multiple Endocrine Neoplasia Type 2B Presents Early in Childhood but Often Is Undiagnosed for Years. ( 30314660 )
2018
9
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
10
Multiple Endocrine Neoplasia Type 2B Unmasked by 18 F-FDG PET/CT and 131 I-MIBG SPECT/CT. ( 28134695 )
2017
11
Cushing Disease in a patient with Multiple Endocrine Neoplasia type 2B. ( 28435794 )
2017
12
SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B. ( 26708403 )
2016
13
Characteristics of chronic megacolon among patients diagnosed with multiple endocrine neoplasia type 2B. ( 27403312 )
2016
14
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
15
In Vivo Confocal Microscopic Architecture of Corneal Nerves in a Case of Multiple Endocrine Neoplasia Type 2b. ( 27994400 )
2016
16
Laryngeal neuromas in a case of multiple endocrine neoplasia type 2B. ( 26535826 )
2015
17
Epidemiology, Clinical Features, and Genetics of Multiple Endocrine Neoplasia Type 2B in a Complete Population. ( 25355845 )
2014
18
Laryngeal neuroma in multiple endocrine neoplasia type 2B. ( 24389350 )
2014
19
Cognitive behavioural therapy for depression in multiple endocrine neoplasia type IIB: a 1-year follow-up. ( 24898996 )
2014
20
Multiple endocrine neoplasia type 2B: maxillofacial significance in 5 cases. ( 25454714 )
2014
21
Vandetanib in children and adolescents with multiple endocrine neoplasia type 2B associated medullary thyroid carcinoma. ( 23766359 )
2013
22
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
23
Coexistence of Multiple Endocrine Neoplasia Type 2B and Chilaiditi Sign: A Case Report. ( 23119190 )
2012
24
Abraham Lincoln's marfanoid mother: the earliest known case of multiple endocrine neoplasia type 2B? ( 22504423 )
2012
25
Positive selection for new disease mutations in the human germline: evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B. ( 22359510 )
2012
26
Confocal scan imaging and impression cytology of the cornea in a case of multiple endocrine neoplasia type-2b. ( 23275828 )
2012
27
Multiple mucosal neuromas in the larynx as part of a multiple endocrine neoplasia type 2B. ( 23218252 )
2012
28
A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract. ( 23093970 )
2012
29
Ocular signs of multiple endocrine neoplasia type 2B (MEN2B). ( 22238409 )
2012
30
A family presenting with multiple endocrine neoplasia type 2B: A case report. ( 22185228 )
2011
31
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
32
Single oligoarray-based detection of specific M918T mutation in RET oncogene in multiple endocrine neoplasia type 2B. ( 21253810 )
2011
33
Neural hyperplasia in maxillary bone of multiple endocrine neoplasia type 2B patient. ( 22099857 )
2011
34
Multiple endocrine neoplasia type 2B associated with malignant melanoma. ( 19958369 )
2010
35
Deeply seated tongue nodules. Multiple endocrine neoplasia, type 2B. ( 20829172 )
2010
36
Multiple Endocrine Neoplasia Type 2B: Early Diagnosis by Multiple Mucosal Neuroma and Its DNA Analysis. ( 21165219 )
2010
37
Ocular findings in a child with multiple endocrine neoplasia type 2b. ( 18825906 )
2008
38
Diabetes mellitus as a primary manifestation of multiple endocrine neoplasia type 2B. ( 19241927 )
2008
39
Early diagnosis of multiple endocrine neoplasia type 2B: a challenge for physicians. ( 19169500 )
2008
40
Choroidal metastases in multiple endocrine neoplasia type 2B. ( 17244227 )
2007
41
Dental rehabilitation of the patient with multiple endocrine neoplasia Type 2b. ( 17899721 )
2007
42
Multiple endocrine neoplasia type 2b associated with lichen nitidus. ( 17540634 )
2007
43
Classic features of multiple endocrine neoplasia type 2B. ( 17296909 )
2007
44
Oral Mucosal Neuromas Leading to the Diagnosis of Multiple Endocrine Neoplasia Type 2B in a Child With Intestinal Pseudo-obstruction. ( 21960833 )
2007
45
RET is constitutively activated by novel tandem mutations that alter the active site resulting in multiple endocrine neoplasia type 2B. ( 17047083 )
2006
46
Phenotypic multiple endocrine neoplasia type 2B, without endocrinopathy or RET gene mutation: implications for management. ( 16839263 )
2006
47
De novo multiple endocrine neoplasia type 2B with noncardiogenic pulmonary edema as the presenting symptom. ( 16829704 )
2006
48
Multiple endocrine neoplasia type 2B diagnosed on suction rectal biopsy in infancy: a report of 2 cases. ( 16808642 )
2006
49
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
50
Case report: multiple endocrine neoplasia type 2B misdiagnosed as familial dysautonomia. ( 15839834 )
2005

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 182)
# 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_020975.5(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
4 RET NM_020975.5(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic rs77503355 GRCh38 Chromosome 10, 43113655: 43113655
5 RET NM_020975.5(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic rs75076352 GRCh37 Chromosome 10, 43609948: 43609948
6 RET NM_020975.5(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic rs75076352 GRCh38 Chromosome 10, 43114500: 43114500
7 RET NM_020975.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic rs77709286 GRCh37 Chromosome 10, 43609950: 43609950
8 RET NM_020975.4(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_020975.4(RET): c.1859G> T (p.Cys620Phe) single nucleotide variant Pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
12 RET NM_020975.4(RET): c.1859G> T (p.Cys620Phe) single nucleotide variant Pathogenic rs77503355 GRCh38 Chromosome 10, 43113655: 43113655
13 RET NM_020975.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic rs76262710 GRCh37 Chromosome 10, 43609096: 43609096
14 RET NM_020975.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic rs76262710 GRCh38 Chromosome 10, 43113648: 43113648
15 RET NM_020975.4(RET): c.2304G> C (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh37 Chromosome 10, 43613840: 43613840
16 RET NM_020975.4(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.2372A> T (p.Tyr791Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs77724903 GRCh37 Chromosome 10, 43613908: 43613908
20 RET NM_020975.4(RET): c.2372A> T (p.Tyr791Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs77724903 GRCh38 Chromosome 10, 43118460: 43118460
21 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh37 Chromosome 10, 43620335: 43620335
22 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh38 Chromosome 10, 43124887: 43124887
23 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic/Likely pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
24 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic/Likely pathogenic rs79658334 GRCh38 Chromosome 10, 43119548: 43119548
25 RET NM_020630.4(RET): c.3116C> T (p.Pro1039Leu) single nucleotide variant Uncertain significance rs79853121 GRCh37 Chromosome 10, 43622099: 43622099
26 RET NM_020630.4(RET): c.3116C> T (p.Pro1039Leu) single nucleotide variant Uncertain significance rs79853121 GRCh38 Chromosome 10, 43126651: 43126651
27 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic rs75234356 GRCh37 Chromosome 10, 43615592: 43615592
28 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic rs75234356 GRCh38 Chromosome 10, 43120144: 43120144
29 RET NM_020975.4(RET): c.1531G> A (p.Glu511Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201553718 GRCh37 Chromosome 10, 43607555: 43607555
30 RET NM_020975.4(RET): c.1531G> A (p.Glu511Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201553718 GRCh38 Chromosome 10, 43112107: 43112107
31 RET NM_020975.4(RET): c.1597G> A (p.Gly533Ser) single nucleotide variant Uncertain significance rs75873440 GRCh37 Chromosome 10, 43607621: 43607621
32 RET NM_020975.4(RET): c.1597G> A (p.Gly533Ser) single nucleotide variant Uncertain significance rs75873440 GRCh38 Chromosome 10, 43112173: 43112173
33 RET NM_020975.4(RET): c.1853G> A (p.Cys618Tyr) single nucleotide variant Pathogenic rs79781594 GRCh37 Chromosome 10, 43609097: 43609097
34 RET NM_020975.4(RET): c.1853G> A (p.Cys618Tyr) single nucleotide variant Pathogenic rs79781594 GRCh38 Chromosome 10, 43113649: 43113649
35 RET NM_020975.4(RET): c.1888T> C (p.Cys630Arg) single nucleotide variant Pathogenic rs377767404 GRCh37 Chromosome 10, 43609936: 43609936
36 RET NM_020975.4(RET): c.1888T> C (p.Cys630Arg) single nucleotide variant Pathogenic rs377767404 GRCh38 Chromosome 10, 43114488: 43114488
37 RET NM_020975.5(RET): c.1894G> A (p.Glu632Lys) single nucleotide variant Uncertain significance rs377767407 GRCh37 Chromosome 10, 43609942: 43609942
38 RET NM_020975.5(RET): c.1894G> A (p.Glu632Lys) single nucleotide variant Uncertain significance rs377767407 GRCh38 Chromosome 10, 43114494: 43114494
39 RET NM_020975.4(RET): c.2342A> G (p.Gln781Arg) single nucleotide variant Uncertain significance rs377767416 GRCh37 Chromosome 10, 43613878: 43613878
40 RET NM_020975.4(RET): c.2342A> G (p.Gln781Arg) single nucleotide variant Uncertain significance rs377767416 GRCh38 Chromosome 10, 43118430: 43118430
41 RET NM_020975.5(RET): c.2371T> A (p.Tyr791Asn) single nucleotide variant Uncertain significance rs377767417 GRCh37 Chromosome 10, 43613907: 43613907
42 RET NM_020975.5(RET): c.2371T> A (p.Tyr791Asn) single nucleotide variant Uncertain significance rs377767417 GRCh38 Chromosome 10, 43118459: 43118459
43 RET NM_020975.4(RET): c.2413G> A (p.Glu805Lys) single nucleotide variant no interpretation for the single variant rs377767418 GRCh37 Chromosome 10, 43614999: 43614999
44 RET NM_020975.4(RET): c.2413G> A (p.Glu805Lys) single nucleotide variant no interpretation for the single variant rs377767418 GRCh38 Chromosome 10, 43119551: 43119551
45 RET NM_020975.4(RET): c.2417A> G (p.Tyr806Cys) single nucleotide variant Uncertain significance rs377767419 GRCh37 Chromosome 10, 43615003: 43615003
46 RET NM_020975.4(RET): c.2417A> G (p.Tyr806Cys) single nucleotide variant Uncertain significance rs377767419 GRCh38 Chromosome 10, 43119555: 43119555
47 RET NM_020630.4(RET): c.2452G> A (p.Glu818Lys) single nucleotide variant Uncertain significance rs377767420 GRCh37 Chromosome 10, 43615038: 43615038
48 RET NM_020630.4(RET): c.2452G> A (p.Glu818Lys) single nucleotide variant Uncertain significance rs377767420 GRCh38 Chromosome 10, 43119590: 43119590
49 RET NM_020975.4(RET): c.2531G> T (p.Arg844Leu) single nucleotide variant Uncertain significance rs55947360 GRCh37 Chromosome 10, 43615117: 43615117
50 RET NM_020975.4(RET): c.2531G> T (p.Arg844Leu) single nucleotide variant Uncertain significance rs55947360 GRCh38 Chromosome 10, 43119669: 43119669

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
13.62 CALCA CDKN1B EDNRB GDNF GFRA1 MEN1
2
Show member pathways
12.02 CDKN1B EDNRB MEN1
3
Show member pathways
11.48 GDNF GFRA1 NCK1 RET
4 11.14 CDKN1B RET
5 11 GDNF GFRA1 RET
6 10.97 GDNF GFRA1
7 10.9 CALCA EDNRB
8 10.5 GDNF GFRA1 NCK1 RET
9 9.81 GDNF GFRA1 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 OSMR RET

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 negative regulation of apoptotic process GO:0043066 9.8 CDKN1B EDNRB GDNF RET
2 positive regulation of cell proliferation GO:0008284 9.76 CDKN1B EDNRB GDNF OSMR
3 nervous system development GO:0007399 9.73 EDNRB GDNF GFRA1 RET
4 axon guidance GO:0007411 9.7 GDNF GFRA1 RET
5 MAPK cascade GO:0000165 9.62 GDNF GFRA1 MEN1 RET
6 negative regulation of cell cycle GO:0045786 9.55 CDKN1B MEN1
7 ureteric bud development GO:0001657 9.54 GDNF RET
8 peripheral nervous system development GO:0007422 9.51 EDNRB GDNF
9 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.48 CDKN1B MEN1
10 neural crest cell migration GO:0001755 9.43 EDNRB GDNF RET
11 vasodilation GO:0042311 9.4 CALCA EDNRB
12 glial cell-derived neurotrophic factor receptor signaling pathway GO:0035860 9.37 GFRA1 RET
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 protein kinase inhibitor activity GO:0004860 9.16 CDKN1B NCK1
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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