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 56
Multiple Endocrine Neoplasia Type 2b 12 52 58 43 15 71
Wagenmann-Froboese Syndrome 56 12 52 58
Men2b 56 12 58 73
Multiple Endocrine Neoplasia Iib 56 29 13
Multiple Endocrine Neoplasia, Type 2b 29 6
Mucosal Neuroma Syndrome 12 52
Multiple Endocrine Neoplasia, Type Iii, Formerly; Men3, Formerly 56
Multiple Endocrine Neoplasia, Type Iii, Formerly 56
Neuromata, Mucosal, with Endocrine Tumors 56
Neoplasia, Endocrine, Multiple, Type Iib 39
Multiple Endocrine Neoplasia, Type 3 12
Multiple Endocrine Neoplasia Type 3 58
Multiple Neoplasia 2b 73
Men3, Formerly 56
Men Type Iib 12
Men Iib 56
Men 2b 52

Characteristics:

Orphanet epidemiological data:

58
multiple endocrine neoplasia type 2b
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
multiple endocrine neoplasia, type iib:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:10016
OMIM 56 162300
OMIM Phenotypic Series 56 PS131100
ICD9CM 34 258.03
MeSH 43 D018814
NCIt 49 C3227
SNOMED-CT 67 61530001
ICD10 32 E31.23
MESH via Orphanet 44 D018814
ICD10 via Orphanet 33 D44.8
UMLS via Orphanet 72 C0025269
Orphanet 58 ORPHA247709
MedGen 41 C0025269
UMLS 71 C0025269

Summaries for Multiple Endocrine Neoplasia, Type Iib

NIH Rare Diseases : 52 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 multiple endocrine neoplasia and neuroma, 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 Developmental Biology. The drugs Sorafenib and Protein Kinase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include thyroid, tongue and testes, and related phenotypes are global developmental delay and muscular hypotonia

Disease Ontology : 12 A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities.

OMIM : 56 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 : 73 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 164)
# Related Disease Score Top Affiliating Genes
1 multiple endocrine neoplasia 31.1 SDHB RET MEN1 GDNF CALCA
2 neuroma 30.9 RET NF1 GDNF CALCA
3 intestinal obstruction 30.8 RET NRTN GDNF
4 hyperparathyroidism 30.7 RET MEN1 CALCA
5 thyroid carcinoma 30.6 RET NTRK1 NCOA4 CCDC6 CALCA
6 renal hypodysplasia/aplasia 1 30.5 RET GFRA1 GDNF
7 neuroendocrine carcinoma 30.5 MEN1 GRP CALCA
8 parathyroid adenoma 30.4 RET MEN1 CALCA
9 primary hyperparathyroidism 30.4 RET MEN1 CALCA
10 constipation 30.1 RET NRTN GRP GDNF CALCA
11 thyroid gland medullary carcinoma 30.0 RET NTRK1 NCOA4 MEN1 GDNF CCDC6
12 neurofibromatosis 30.0 SDHD SDHB RET NF1
13 neurofibromatosis, type i 29.8 SDHD SDHB RET NF1 MEN1
14 cowden syndrome 29.8 SDHD SDHB RET NF1 MEN1
15 multiple mucosal neuroma 29.7 SDHAF2 RET NTRK1 GDNF CALCA
16 von hippel-lindau syndrome 29.5 TMEM127 SDHD SDHB RET NF1 MEN1
17 neuroendocrine tumor 29.4 SDHD SDHB RET NF1 MEN1 GRP
18 thyroid carcinoma, familial medullary 29.2 RET PSPN NTRK1 NRTN MEN1 GRP
19 megacolon 29.2 RET PSPN NTRK1 NRTN GFRA1 GDNF
20 hereditary paraganglioma-pheochromocytoma syndromes 29.0 TMEM127 SDHD SDHB SDHAF2 RET NF1
21 multiple endocrine neoplasia, type iia 28.8 TMEM127 SHC1 SDHD SDHB SDHAF2 RET
22 paraganglioma 28.7 TMEM127 SDHD SDHB SDHAF2 RET NF1
23 neuroblastoma 27.8 SHC1 SDHB RET PTCH1 NTRK1 NF1
24 hirschsprung disease 1 27.7 SHC1 RET PTCH1 PSPN NTRK1 NRTN
25 pheochromocytoma 27.4 TMEM127 SHC1 SDHD SDHB SDHAF2 RET
26 thyroid gland cancer 26.4 SHC1 SDHD SDHB RET PTCH1 PSPN
27 atypical follicular adenoma 10.5 RET CALCA
28 adrenal gland pheochromocytoma 10.5
29 medullary sponge kidney 10.5 RET GDNF
30 nonencapsulated sclerosing carcinoma 10.5 RET CALCA
31 hypoganglionosis 10.5 RET GDNF
32 benign struma ovarii 10.5 RET NCOA4
33 struma ovarii 10.5 RET NCOA4
34 malignant struma ovarii 10.5 RET NCOA4
35 lung oat cell carcinoma 10.4 GRP CALCA
36 pancreatic cholera 10.4 MEN1 CALCA
37 neurogenic arthropathy 10.4 NTRK1 CALCA
38 endocrine pancreas disease 10.4 MEN1 CALCA
39 pancreatic somatostatinoma 10.4 NF1 CALCA
40 tall cell variant papillary carcinoma 10.4 RET NTRK1
41 parathyroid carcinoma 10.4 RET MEN1 CALCA
42 hyperparathyroidism 2 with jaw tumors 10.3 RET MEN1
43 parathyroid gland disease 10.3 RET MEN1 CALCA
44 islet cell tumor 10.3 RET MEN1 CALCA
45 skin lipoma 10.3 RET MEN1 GFRA1
46 perianal hematoma 10.3 NF1 CALCA
47 thyroid gland disease 10.3 RET NCOA4 CALCA
48 ptosis 10.3
49 dysphagia 10.3
50 thyroid tumor 10.3

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

Human phenotypes related to Multiple Endocrine Neoplasia, Type Iib:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 muscular hypotonia 31 HP:0001252
3 scoliosis 31 HP:0002650
4 kyphosis 31 HP:0002808
5 thick eyebrow 31 HP:0000574
6 myopathy 31 HP:0003198
7 thick lower lip vermilion 31 HP:0000179
8 hyperlordosis 31 HP:0003307
9 high palate 31 HP:0000218
10 failure to thrive in infancy 31 HP:0001531
11 high, narrow palate 31 HP:0002705
12 pectus excavatum 31 HP:0000767
13 joint laxity 31 HP:0001388
14 disproportionate tall stature 31 HP:0001519
15 aganglionic megacolon 31 HP:0002251
16 constipation 31 HP:0002019
17 colonic diverticula 31 HP:0002253
18 pes cavus 31 HP:0001761
19 pheochromocytoma 31 HP:0002666
20 diarrhea 31 HP:0002014
21 generalized hypotonia 31 HP:0001290
22 ganglioneuroma 31 HP:0003005
23 medullary thyroid carcinoma 31 HP:0002865
24 elevated calcitonin 31 HP:0003528
25 nodular goiter 31 HP:0005994
26 parathyroid hyperplasia 31 HP:0008208
27 elevated urinary epinephrine 31 HP:0003639
28 flushing 31 HP:0031284
29 proximal femoral epiphysiolysis 31 HP:0006461

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
kyphosis
lordosis

Growth Other:
failure to thrive in infancy

Skeletal Limbs:
joint laxity
slipped capital femoral epiphyses

Skeletal Feet:
pes cavus

Laboratory Abnormalities:
elevated calcitonin
pentagastrin stimulation test
increased urinary epinephrine

Endocrine Features:
parathyroid hyperplasia

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

Muscle Soft Tissue:
myopathy

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Abdomen Gastrointestinal:
constipation
diarrhea
ganglioneuroma
megacolon
colonic diverticulosis

Neoplasia:
pheochromocytoma
ganglioneuroma
medullary thyroid carcinoma
parathyroid disease rare

Head And Neck Neck:
nodular goiter

Neurologic Central Nervous System:
hypotonia
developmental delay

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

UMLS symptoms related to Multiple Endocrine Neoplasia, Type Iib:


constipation, diarrhea

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

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.91 SHC1
2 Decreased viability GR00055-A-2 9.91 SHC1
3 Decreased viability GR00106-A-0 9.91 MEN1 ZNF22
4 Decreased viability GR00221-A-1 9.91 NF1 RET SDHD
5 Decreased viability GR00221-A-2 9.91 NF1 RET SDHD
6 Decreased viability GR00221-A-3 9.91 NTRK1
7 Decreased viability GR00221-A-4 9.91 NF1 RET SDHD
8 Decreased viability GR00240-S-1 9.91 SDHB
9 Decreased viability GR00249-S 9.91 CCDC6 GFRA1 NCOA4 NF1 NTRK1 PTCH1
10 Decreased viability GR00301-A 9.91 NTRK1 RET
11 Decreased viability GR00381-A-1 9.91 CALCA GRP SDHD
12 Decreased viability GR00381-A-3 9.91 GRP
13 Decreased viability GR00386-A-1 9.91 GRP NCOA4 NF1 PTCH1 TMEM127
14 Decreased viability GR00402-S-2 9.91 ARTN CCDC6 GRP RET TMEM127

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 GDNF GFRA1 GRP NF1 NRTN NTRK1
2 embryo MP:0005380 9.97 GFRA1 MEN1 NF1 PTCH1 RET SDHAF2
3 endocrine/exocrine gland MP:0005379 9.97 GDNF MEN1 NF1 NRTN PTCH1 RET
4 digestive/alimentary MP:0005381 9.95 GDNF GFRA1 MEN1 NF1 NRTN PTCH1
5 muscle MP:0005369 9.91 GDNF GFRA1 MEN1 NF1 NRTN NTRK1
6 nervous system MP:0003631 9.77 ARTN GDNF GFRA1 GRP MEN1 NF1
7 neoplasm MP:0002006 9.7 MEN1 NF1 PTCH1 RET SDHB SDHD
8 normal MP:0002873 9.23 GFRA1 NF1 NTRK1 PTCH1 RET SDHB

Drugs & Therapeutics for Multiple Endocrine Neoplasia, Type Iib

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
2 Protein Kinase Inhibitors Phase 2
3
Choline Approved, Nutraceutical 62-49-7 305

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Study of Sorafenib (BAY 43-9006) in Patients With Metastatic Medullary Thyroid Carcinoma Active, not recruiting NCT00390325 Phase 2 Sorafenib;Sorafenib Tosylate
2 Phase I/II Trial of Vandetanib (ZD6474, ZACTIMA) in Children and Adolescents With Hereditary Medullary Thyroid Carcinoma Active, not recruiting NCT00514046 Phase 1, Phase 2 Vandetanib
3 A Phase 1 Study of Veliparib (ABT-888) in Combination With Capecitabine and Temozolomide in Advanced Well-Differentiated Neuroendocrine Tumors Withdrawn NCT02831179 Phase 1 Capecitabine;Temozolomide;Veliparib
4 Study of Molecular Pathways in Medullary Thyroid Carcinoma (MTC) and Correlation of Molecular Data With Clinical Behavior of the MTC in Individuals Patients Completed NCT01424878
5 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
6 Longitudinal Assessment and Natural History Study of Children and Adults With MEN2A or MEN2B With or Without Medullary Thyroid Carcinoma Recruiting NCT01660984
7 Diagnostic Value of 18F-Fluorocholine PET/CT for the Detection of Medullary Thyroid Cancer Recruiting NCT03643055

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
2 Multiple Endocrine Neoplasia Iib 29

Anatomical Context for Multiple Endocrine Neoplasia, Type Iib

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

40
Thyroid, Tongue, Testes, Adrenal Gland, Colon, Bone, Small Intestine

Publications for Multiple Endocrine Neoplasia, Type Iib

Articles related to Multiple Endocrine Neoplasia, Type Iib:

(show top 50) (show all 317)
# Title Authors PMID Year
1
Parent-of-origin effects in multiple endocrine neoplasia type 2B. 61 56 6
7977365 1994
2
Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. 61 6 56
7906417 1994
3
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. 61 56 6
7906866 1994
4
Full activation of MEN2B mutant RET by an additional MEN2A mutation or by ligand GDNF stimulation. 6 56
9620546 1998
5
Phenotypic multiple endocrine neoplasia type 2B, without endocrinopathy or RET gene mutation: implications for management. 61 56
16839263 2006
6
Medullary thyroid carcinoma as part of a multiple endocrine neoplasia type 2B syndrome: influence of the stage on the clinical course. 56 61
11815959 2002
7
Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome). 56 61
8880581 1996
8
Relationship of familial prominent corneal nerves and lesions of the tongue resembling neuromas to multiple endocrine neoplasia type 2B. 56 61
7573303 1995
9
Familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2B map to the same region of chromosome 10 as multiple endocrine neoplasia type 2A. 61 56
1672289 1991
10
Multiple endocrine neoplasia type 2b with a good prognosis. 56 61
2884942 1987
11
Abnormal cutaneous innervation in multiple endocrine neoplasia, type 2b. 56 61
7224387 1981
12
The parathyroid glands in multiple endocrine neoplasia type 2b. 61 56
7377288 1980
13
Multiple endocrine neoplasia, type 2b: phenotype recognition; neurological features and their pathological basis. 56 61
554522 1979
14
Alimentary tract manifestations of multiple endocrine neoplasia, type 2b. 56 61
895196 1977
15
Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia, type 2b. 61 56
980061 1976
16
Mucosal ganglioneuromatosis, medullary thyroid carcinoma, and pheochromocytoma: multiple endocrine neoplasia, type 2b. 56 61
1063979 1976
17
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
18
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
19
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 6
24893135 2014
20
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
21
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome. 56
22258529 2012
22
Ocular signs of multiple endocrine neoplasia type 2B (MEN2B). 52 61
22238409 2012
23
Clinical utility gene card for: multiple endocrine neoplasia type 2. 6
21863057 2012
24
Medullary thyroid cancer: management guidelines of the American Thyroid Association. 6
19469690 2009
25
Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918. 6
11788682 2002
26
Guidelines for diagnosis and therapy of MEN type 1 and type 2. 6
11739416 2001
27
Multiple Endocrine Neoplasia Type 2 6
20301434 1999
28
Neuromas and prominent corneal nerves without MEN 2B. 56
10189992 1998
29
Four cases of mucosal neuroma syndrome: multiple endocrine neoplasm 2B or not 2B? 56
9435410 1998
30
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. 6
8918855 1996
31
Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease. 6
8782503 1996
32
Mutation of the RET protooncogene in sporadic medullary thyroid carcinoma. 6
7536460 1995
33
A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC. 6
7845675 1995
34
Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. 6
7824936 1995
35
Familial medullary thyroid cancer and prominent corneal nerves: clinical and genetic analysis. 56
7829628 1995
36
Parental origin effects, genome imprinting, and sex-ratio distortion: double or nothing? 56
7977364 1994
37
Medullary thyroid carcinoma, genes, and the prevention of cancer. 56
7915823 1994
38
Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2. 56
8098977 1993
39
Isolation of ret proto-oncogene cDNA with an amino-terminal signal sequence. 6
2660074 1989
40
Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains. 6
3078962 1988
41
Mucosal neuromata syndrome (MEN type IIb (III)). 56
2906373 1988
42
Intestinal ganglioneuromatosis. A manifestation of overproduction of nerve growth factor? 56
6131380 1983
43
Mucosal neuroma syndrome presenting in a neonate. 56
892250 1977
44
Dopa decarboxylase in medullary carcinoma of the thyroid. 56
4146664 1973
45
C-cell hyperplasia preceding medullary thyroid carcinoma. 56
4587234 1973
46
Pheochromocytoma, medullary thyroid carcinoma, multiple mucosal neuroma. A variant of the syndrome. 56
4623875 1972
47
Multiple mucosal neuromas, pheochromocytoma, medullary carcinoma of the thyroid and marfanoid body build with muscle wasting. Syndrome of hyperplasia and neoplasia of neural crest derivatives--an unitarian concept. 56
4649671 1972
48
Elevated histaminase activity in medullary carcinoma of the thyroid gland. 56
4990961 1970
49
Multiple mucosal neuromas, pheochromocytoma and medullary carcinoma of the thyroid--a syndrome. 56
5660196 1968
50
Syndrome of bilateral pheochromocytoma, medullary thyroid carcinoma and multiple neuromas. A possible regulatory defect in the differentiation of chromaffin tissue. 56
4968712 1968

Variations for Multiple Endocrine Neoplasia, Type Iib

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

6 (show top 50) (show all 107) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RET NM_020975.6(RET):c.1852T>G (p.Cys618Gly)SNV Pathogenic 13905 rs76262710 10:43609096-43609096 10:43113648-43113648
2 RET NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)SNV Pathogenic 13909 rs75996173 10:43609949-43609949 10:43114501-43114501
3 RET NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)SNV Pathogenic 13916 rs77503355 10:43609103-43609103 10:43113655-43113655
4 RET NM_020975.6(RET):c.1900T>C (p.Cys634Arg)SNV Pathogenic 13917 rs75076352 10:43609948-43609948 10:43114500-43114500
5 RET NM_020975.6(RET):c.1902C>G (p.Cys634Trp)SNV Pathogenic 13918 rs77709286 10:43609950-43609950 10:43114502-43114502
6 RET NM_020975.6(RET):c.2753T>C (p.Met918Thr)SNV Pathogenic 13919 rs74799832 10:43617416-43617416 10:43121968-43121968
7 RET NM_020975.6(RET):c.1859G>T (p.Cys620Phe)SNV Pathogenic 13928 rs77503355 10:43609103-43609103 10:43113655-43113655
8 RET NM_020975.6(RET):c.1852T>C (p.Cys618Arg)SNV Pathogenic 13929 rs76262710 10:43609096-43609096 10:43113648-43113648
9 RET NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)SNV Pathogenic 13933 rs77939446 10:43609070-43609070 10:43113622-43113622
10 RET NM_020975.6(RET):c.2671T>G (p.Ser891Ala)SNV Pathogenic 13951 rs75234356 10:43615592-43615592 10:43120144-43120144
11 RET NM_020975.6(RET):c.1853G>A (p.Cys618Tyr)SNV Pathogenic 24901 rs79781594 10:43609097-43609097 10:43113649-43113649
12 RET NM_020975.6(RET):c.1888T>C (p.Cys630Arg)SNV Pathogenic 24908 rs377767404 10:43609936-43609936 10:43114488-43114488
13 RET NM_020975.6(RET):c.2410G>C (p.Val804Leu)SNV Pathogenic 38613 rs79658334 10:43614996-43614996 10:43119548-43119548
14 RET NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe)indel Pathogenic/Likely pathogenic 38629 rs377767429 10:43615568-43615569 10:43120120-43120121
15 RET NM_020975.6(RET):c.2304G>T (p.Glu768Asp)SNV Pathogenic/Likely pathogenic 38611 rs78014899 10:43613840-43613840 10:43118392-43118392
16 RET NM_020975.6(RET):c.1947G>A (p.Ser649=)SNV Pathogenic/Likely pathogenic 24929 rs377767412 10:43609995-43609995 10:43114547-43114547
17 RET NM_020975.6(RET):c.2410G>A (p.Val804Met)SNV Pathogenic/Likely pathogenic 37102 rs79658334 10:43614996-43614996 10:43119548-43119548
18 RET NM_020975.6(RET):c.2304G>C (p.Glu768Asp)SNV Pathogenic/Likely pathogenic 13931 rs78014899 10:43613840-43613840 10:43118392-43118392
19 RET NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)SNV Conflicting interpretations of pathogenicity 13936 rs77724903 10:43613908-43613908 10:43118460-43118460
20 RET NM_020975.6(RET):c.2944C>T (p.Arg982Cys)SNV Conflicting interpretations of pathogenicity 13938 rs17158558 10:43620335-43620335 10:43124887-43124887
21 RET NM_020975.6(RET):c.2945G>A (p.Arg982His)SNV Conflicting interpretations of pathogenicity 477359 rs368550200 10:43620336-43620336 10:43124888-43124888
22 RET NM_020975.6(RET):c.2342A>G (p.Gln781Arg)SNV Conflicting interpretations of pathogenicity 24938 rs377767416 10:43613878-43613878 10:43118430-43118430
23 RET NM_020975.6(RET):c.874G>A (p.Val292Met)SNV Conflicting interpretations of pathogenicity 24880 rs34682185 10:43601830-43601830 10:43106382-43106382
24 RET NM_020975.6(RET):c.1531G>A (p.Glu511Lys)SNV Conflicting interpretations of pathogenicity 24883 rs201553718 10:43607555-43607555 10:43112107-43112107
25 RET NM_020975.6(RET):c.3057G>A (p.Ala1019=)SNV Conflicting interpretations of pathogenicity 132727 rs369579749 10:43622040-43622040 10:43126592-43126592
26 RET NM_020975.6(RET):c.1438G>A (p.Glu480Lys)SNV Conflicting interpretations of pathogenicity 135189 rs537874538 10:43606829-43606829 10:43111381-43111381
27 RET NM_020975.6(RET):c.1264-4C>TSNV Conflicting interpretations of pathogenicity 136097 rs587780806 10:43606651-43606651 10:43111203-43111203
28 RET NM_020975.6(RET):c.3188-9C>TSNV Conflicting interpretations of pathogenicity 136116 rs551159582 10:43623551-43623551 10:43128103-43128103
29 RET NM_020975.6(RET):c.3243T>C (p.Asp1081=)SNV Conflicting interpretations of pathogenicity 136118 rs144192900 10:43623615-43623615 10:43128167-43128167
30 RET NM_020975.6(RET):c.693C>T (p.Arg231=)SNV Conflicting interpretations of pathogenicity 136123 rs576806329 10:43600467-43600467 10:43105019-43105019
31 RET NM_020975.6(RET):c.539G>A (p.Arg180Gln)SNV Conflicting interpretations of pathogenicity 161360 rs370736139 10:43597991-43597991 10:43102543-43102543
32 RET NM_020975.6(RET):c.2081G>A (p.Arg694Gln)SNV Conflicting interpretations of pathogenicity 161358 rs141185224 10:43610129-43610129 10:43114681-43114681
33 RET NM_020975.6(RET):c.225G>A (p.Thr75=)SNV Conflicting interpretations of pathogenicity 184368 rs151267865 10:43596058-43596058 10:43100610-43100610
34 RET NM_020975.6(RET):c.3253A>G (p.Thr1085Ala)SNV Conflicting interpretations of pathogenicity 183744 rs756465544 10:43623625-43623625 10:43128177-43128177
35 RET NM_020975.6(RET):c.262A>G (p.Ile88Val)SNV Conflicting interpretations of pathogenicity 188305 rs141679950 10:43596095-43596095 10:43100647-43100647
36 RET NM_020975.6(RET):c.972G>C (p.Trp324Cys)SNV Conflicting interpretations of pathogenicity 188078 rs758298916 10:43601928-43601928 10:43106480-43106480
37 RET NM_020975.6(RET):c.2607+4C>TSNV Conflicting interpretations of pathogenicity 216720 rs200634990 10:43615197-43615197 10:43119749-43119749
38 RET NM_020975.6(RET):c.1063+9G>ASNV Conflicting interpretations of pathogenicity 241333 rs765463636 10:43602028-43602028 10:43106580-43106580
39 RET NM_020975.6(RET):c.1522+35C>TSNV Conflicting interpretations of pathogenicity 241337 rs377130948 10:43606948-43606948 10:43111500-43111500
40 RET NM_020975.6(RET):c.1879+13C>TSNV Conflicting interpretations of pathogenicity 372091 rs375573788 10:43609136-43609136 10:43113688-43113688
41 RET NM_020975.6(RET):c.2393-14C>TSNV Conflicting interpretations of pathogenicity 372082 rs144269978 10:43614965-43614965 10:43119517-43119517
42 RET NM_020975.6(RET):c.2488G>A (p.Gly830Arg)SNV Uncertain significance 372078 rs200127630 10:43615074-43615074 10:43119626-43119626
43 RET NM_020975.6(RET):c.2110G>T (p.Val704Phe)SNV Uncertain significance 372088 rs927029236 10:43610158-43610158 10:43114710-43114710
44 RET NM_020975.6(RET):c.2116G>A (p.Val706Met)SNV Uncertain significance 372079 rs137855422 10:43610164-43610164 10:43114716-43114716
45 RET NM_020975.6(RET):c.3142C>G (p.Leu1048Val)SNV Uncertain significance 372080 rs774347808 10:43622125-43622125 10:43126677-43126677
46 RET NM_020975.6(RET):c.1187C>T (p.Ser396Leu)SNV Uncertain significance 372081 rs781646869 10:43604602-43604602 10:43109154-43109154
47 RET NM_020975.6(RET):c.2477A>C (p.Tyr826Ser)SNV Uncertain significance 220530 rs34617196 10:43615063-43615063 10:43119615-43119615
48 RET NM_020975.6(RET):c.3206G>C (p.Trp1069Ser)SNV Uncertain significance 220521 rs776615468 10:43623578-43623578 10:43128130-43128130
49 RET NM_020975.6(RET):c.1915G>A (p.Ala639Thr)SNV Uncertain significance 241341 rs777122776 10:43609963-43609963 10:43114515-43114515
50 RET NM_020975.6(RET):c.2225C>T (p.Thr742Met)SNV Uncertain significance 187701 rs773256580 10:43612120-43612120 10:43116672-43116672

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

73
# 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

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
13.88 SHC1 RET PTCH1 PSPN NTRK1 NRTN
2
Show member pathways
13.22 SHC1 RET PSPN NRTN NF1 GFRA1
3
Show member pathways
13.03 SHC1 RET PSPN NRTN NF1 GFRA1
4
Show member pathways
12.6 SHC1 RET NTRK1 NCOA4 CCDC6
5 12.56 RET PTCH1 NTRK1 NCOA4 CCDC6
6 12.31 RET NTRK1 NF1 CALCA
7
Show member pathways
11.4 SHC1 RET PSPN NRTN GFRA1 GDNF
8 11.04 SHC1 RET GFRA1 GDNF
9 10.92 PSPN NRTN GFRA1 GDNF ARTN
10 10.03 SHC1 RET GFRA1 GDNF

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 axon GO:0030424 9.35 RET NTRK1 NRTN NF1 CALCA
2 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.62 SDHD SDHB

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.91 TMEM127 PTCH1 NTRK1 NF1 MEN1
2 nervous system development GO:0007399 9.85 RET PSPN NTRK1 NRTN GFRA1 GDNF
3 positive regulation of MAPK cascade GO:0043410 9.77 SHC1 RET NTRK1
4 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.71 SHC1 RET NTRK1 NRTN
5 neural crest cell migration GO:0001755 9.65 RET NRTN GDNF
6 tricarboxylic acid cycle GO:0006099 9.61 SDHD SDHB SDHAF2
7 response to pain GO:0048265 9.58 RET CALCA
8 detection of temperature stimulus involved in sensory perception of pain GO:0050965 9.58 NTRK1 CALCA
9 enteric nervous system development GO:0048484 9.57 RET GDNF
10 smooth muscle tissue development GO:0048745 9.56 PTCH1 NF1
11 axon guidance GO:0007411 9.56 SHC1 RET PSPN NTRK1 NRTN GFRA1
12 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.55 RET NF1
13 commissural neuron axon guidance GO:0071679 9.54 PTCH1 GDNF
14 glial cell-derived neurotrophic factor receptor signaling pathway GO:0035860 9.52 RET GFRA1
15 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.49 SDHD SDHAF2
16 lymphocyte migration into lymphoid organs GO:0097021 9.46 RET ARTN
17 peripheral nervous system development GO:0007422 9.43 NF1 GDNF ARTN
18 sympathetic nervous system development GO:0048485 9.33 NTRK1 NF1 GDNF
19 Peyer's patch morphogenesis GO:0061146 9.32 RET ARTN
20 MAPK cascade GO:0000165 9.28 SHC1 RET PSPN NRTN NF1 MEN1

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

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.26 PSPN NRTN GDNF ARTN
2 signaling receptor binding GO:0005102 9.17 PSPN NRTN GRP GFRA1 GDNF CALCA
3 ubiquinone binding GO:0048039 9.16 SDHD SDHB

Sources for Multiple Endocrine Neoplasia, Type Iib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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