MCID: MLT025
MIFTS: 57

Multiple Endocrine Neoplasia Iib

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

Aliases & Classifications for Multiple Endocrine Neoplasia Iib

MalaCards integrated aliases for Multiple Endocrine Neoplasia Iib:

Name: Multiple Endocrine Neoplasia Iib 54 13
Multiple Endocrine Neoplasia Type 2b 12 50 24 56 42 14 69
Men2b 12 24 56 71
Wagenmann-Froboese Syndrome 12 50 56
Mucosal Neuroma Syndrome 12 50 24
Men 2b 50 24
Multiple Endocrine Neoplasia, Type 2b 29
Multiple Endocrine Neoplasia, Type 3 12
Multiple Endocrine Neoplasia Type 3 56
Multiple Neoplasia 2b 71
Men Type Iib 12

Characteristics:

Orphanet epidemiological data:

56
multiple endocrine neoplasia type 2b
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

54
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 iib:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Multiple Endocrine Neoplasia Iib

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 247709disease definitionmultiple endocrine neoplasia 2b (men2b) syndrome is a rare aggressive form of men2 (see this term) characterized by medullary thyroid carcinoma (mtc, see this term), pheochromocytoma (see this term), mucosal ganglioneuroma, and marfanoid habitus.epidemiologythe exact prevalence of men2b is unknown but it accounts for 5 to 10% of all cases of men2 syndrome, providing estimated prevalence of 1/700,000 to 1/350,000.clinical descriptiononset usually occurs earlier than men2a (see this term) and most frequently in infants and young children. chronic constipation, abdominal distension, diarrhea, or megacolon at birth are often the initial manifestations of the disease due to ganglioneuromatosis of the gastrointestinal tract. patients also exhibit mucosal neuromas of the lips, eyelids, and tongue, bumpy lips, and marfanoid habitus (with skeletal abnormalities and joint laxity). men2b has a higher mortality rate than men2a. unlike men2a, men2b follows a more severe course and hyperparathyroidism is not found. pheochromocytoma occurs in 50% of patients.etiologya single mutation at codon 918 in the tyrosine kinase domain of the ret proto-oncogene (10q11.2) has been associated with the men2b phenotype.genetic counselingtransmission is autosomal dominant.visit the orphanet disease page for more resources. last updated: 4/17/2015

MalaCards based summary : Multiple Endocrine Neoplasia Iib, also known as multiple endocrine neoplasia type 2b, is related to pheochromocytoma and medullary thyroid carcinoma, familial, and has symptoms including scoliosis, diarrhea and joint laxity. An important gene associated with Multiple Endocrine Neoplasia Iib is RET (Ret Proto-Oncogene), and among its related pathways/superpathways are Signaling by GPCR and Axon guidance. The drugs Bevacizumab and Carboplatin have been mentioned in the context of this disorder. Affiliated tissues include thyroid, tongue and colon, and related phenotypes are behavior/neurological and cellular

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
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)

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.

Related Diseases for Multiple Endocrine Neoplasia Iib

Diseases in the Multiple Endocrine Neoplasia family:

Multiple Endocrine Neoplasia Iia Multiple Endocrine Neoplasia Iib
Multiple Endocrine Neoplasia 1 Multiple Endocrine Neoplasia, Type Iv

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

(show top 50) (show all 52)
id Related Disease Score Top Affiliating Genes
1 pheochromocytoma 29.7 CALCA GDNF MEN1 RET
2 medullary thyroid carcinoma, familial 29.0 CALCA EDNRB GDNF GFRA1 MEN1 OSMR
3 multiple endocrine neoplasia iia 10.8
4 megalocytic interstitial nephritis 10.6 GDNF RET
5 pemphigus foliaceus 10.6 CALCA MEN1
6 pandas 10.5 CALCA MEN1
7 mixed cell type adenoma of parathyroid 10.5 CALCA MEN1
8 hyperparathyroidism-jaw tumor syndrome 10.5 MEN1 RET
9 hypogonadotropic hypogonadism without anosmia, x-linked 10.5 GDNF RET
10 isolated scaphocephaly 10.5 CALCA EDNRB
11 iris mixed cell melanoma 10.5 CALCA MEN1
12 diabetes mellitus, noninsulin-dependent, 5 10.5 EDNRB RET
13 carcinoma of unknown primary site, childhood 10.5 CALCA MEN1
14 early-onset parkinson disease 10.5 MEN1 RET
15 juvenile dermatitis herpetiformis 10.4 CALCA EDNRB
16 nodular prostate 10.4 CALCA RET
17 serotonin syndrome 10.4 OSMR RET
18 kartagener syndrome 10.4 CALCA MEN1
19 hemopericardium 10.4 CALCA EDNRB
20 demyelinating polyneuropathy 10.3 PTCH1 RET
21 intestinal impaction 10.3 CALCA GDNF
22 opioid abuse 10.3 CALCA MEN1 RET
23 ileocolitis 10.3 GDNF GFRA1
24 parathyroid carcinoma 10.3 CALCA MEN1
25 parathyroid oncocytic adenoma 10.3 CALCA MEN1 RET
26 hyperparathyroidism, familial primary 10.3 CALCA MEN1 RET
27 connective tissue cancer 10.3 CALCA GDNF RET
28 subserous uterine fibroid 10.3 CALCA MEN1 RET
29 fallopian tube papillary adenocarcinoma 10.3 PTCH1 RET
30 vestibulocochlear nerve disease 10.3 GDNF RET
31 bladder diffuse clear cell adenocarcinoma 10.2 CALCA RET
32 multiple endocrine neoplasia 10.2
33 shprintzen-goldberg syndrome 10.2 EDNRB GDNF RET
34 spinal meningioma 10.2 EDNRB GDNF RET
35 paralytic ileus 10.2 EDNRB GDNF RET
36 sweat gland cancer 10.2 EDNRB GDNF RET
37 hirschsprung disease 1 10.2 EDNRB GDNF RET
38 mucositis 10.1
39 neuroma 10.1
40 male reproductive organ benign neoplasm 10.1 MEN1 RET
41 lymphoplasmacytic lymphoma 10.1 MEN1 PTCH1 RET
42 multiple mucosal neuroma 10.0
43 sporadic hemiplegic migraine 9.9 CALCA GDNF MEN1 RET
44 cloacogenic carcinoma 9.9 CALCA RET
45 conjunctivitis 9.9
46 prostatitis 9.9
47 constipation 9.9
48 benign shuddering attacks 9.8 CALCA MEN1 PTCH1 RET
49 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 9.8 CALCA MEN1 OSMR RET
50 wolffian duct adenocarcinoma 9.7 EDNRB GDNF GFRA1 RET

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



Diseases related to Multiple Endocrine Neoplasia Iib

Symptoms & Phenotypes for Multiple Endocrine Neoplasia Iib

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Spine:
scoliosis
kyphosis
lordosis

Abdomen- Gastroin testinal:
diarrhea
constipation
megacolon
colonic diverticulosis
ganglioneuroma

Skeletal- Limbs:
joint laxity
slipped capital femoral epiphyses

Muscle Soft Tissue:
myopathy

Neoplasia:
medullary thyroid carcinoma
pheochromocytoma
ganglioneuroma
parathyroid disease rare

Growth- Height:
marfanoid body habitus

Head And Neck- Face:
coarse-appearing facies

Head And Neck- Neck:
nodular goiter

Endocrine Features:
parathyroid hyperplasia

Neurologic- Central Nervous System:
hypotonia
developmental delay

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

Skeletal- Feet:
pes cavus

Chest- Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Laboratory- Abnormalities:
increased urinary epinephrine
elevated calcitonin
pentagastrin stimulation test

Growth- Other:
failure to thrive in infancy

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

Skin Nails & Hair- Skin:
flushing attacks


Clinical features from OMIM:

162300

Human phenotypes related to Multiple Endocrine Neoplasia Iib:

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

UMLS symptoms related to Multiple Endocrine Neoplasia Iib:


constipation, diarrhea, joint laxity

MGI Mouse Phenotypes related to Multiple Endocrine Neoplasia Iib:

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

Drugs & Therapeutics for Multiple Endocrine Neoplasia Iib

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

(show top 50) (show all 92)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 3 216974-75-3
2
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
3
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
4
Fluorouracil Approved Phase 3,Phase 2 51-21-8 3385
5
Gemcitabine Approved Phase 3,Phase 2,Phase 1 95058-81-4 60750
6
Levoleucovorin Approved Phase 3,Phase 2 68538-85-2
7
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 43805 6857599
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1 59-30-3 6037
9
leucovorin Approved, Nutraceutical Phase 3,Phase 2,Phase 1 58-05-9 143 6006
10 Albumin-Bound Paclitaxel Phase 3
11 Angiogenesis Inhibitors Phase 3
12 Angiogenesis Modulating Agents Phase 3
13 Antimitotic Agents Phase 3
14 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
15 Antidotes Phase 3,Phase 2
16 Anti-Infective Agents Phase 3,Phase 1,Phase 2
17 Antimetabolites Phase 3,Phase 2,Phase 1
18 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1
19 Antiviral Agents Phase 3,Phase 1,Phase 2
20 Hematinics Phase 3,Phase 2,Phase 1
21 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
22 Micronutrients Phase 3,Phase 2,Phase 1
23 Protective Agents Phase 3,Phase 2
24 Trace Elements Phase 3,Phase 2,Phase 1
25 Vitamin B Complex Phase 3,Phase 2,Phase 1
26 Vitamins Phase 3,Phase 2,Phase 1
27 Folate Nutraceutical Phase 3,Phase 2,Phase 1
28 Vitamin B9 Nutraceutical Phase 3,Phase 2,Phase 1
29
Topotecan Approved, Investigational Phase 2 119413-54-6, 123948-87-8 60700
30
Methyltestosterone Approved Phase 2 58-18-4 6010
31
Testosterone Approved, Investigational Phase 2 58-22-0 6013
32
Olaparib Approved Phase 2 763113-22-0 23725625
33
Nelfinavir Approved Phase 2 159989-64-7 64143
34
Capecitabine Approved, Investigational Phase 2 154361-50-9 60953
35
Zoledronic acid Approved Phase 2 118072-93-8 68740
36 Belotecan Investigational Phase 2 256411-32-2
37
Camptothecin Experimental Phase 2 7689-03-4
38
Enclomiphene Investigational Phase 2 15690-57-0
39
Cediranib Investigational Phase 2 288383-20-0 9933475
40
Imidazole Experimental Phase 2 288-32-4 795
41 topoisomerase I inhibitors Phase 2
42 Topoisomerase Inhibitors Phase 2
43 Anabolic Agents Phase 2
44 Androgens Phase 2
45 Antineoplastic Agents, Hormonal Phase 2
46 Clomiphene Phase 2
47 Estrogen Antagonists Phase 2
48 Estrogen Receptor Modulators Phase 2
49 Estrogens Phase 2
50 Fertility Agents Phase 2

Interventional clinical trials:

(show all 12)

id Name Status NCT ID Phase Drugs
1 Carboplatin and Paclitaxel With or Without Bevacizumab in Treating Patients With Newly Diagnosed Ovarian Epithelial Cancer, Fallopian Tube Cancer, or Primary Peritoneal Cavity Cancer Completed NCT00483782 Phase 3 carboplatin;paclitaxel
2 Second-Line Adjuvant Therapy With Nab-Paclitaxel Plus Gemcitabine Versus Oxaliplatin Plus Folinic Acid and Fluorouracil for Gemcitabine-Refractory Pancreatic Cancer After Curative Resection Recruiting NCT02506842 Phase 3 nab-paclitaxel;gemcitabine;oxaliplatin;folinic acid;fluorouracil
3 Belotecan Versus Topotecan for Recurrent Ovarian Cancer: A Randomized, Open-label, Parallel-group Phase IIb Trial Completed NCT01630018 Phase 2 Topotecan;Belotecan
4 Normalization of Morning Testosterone Levels in Men With Secondary Hypogonadism Completed NCT01270841 Phase 2 Placebo;topical testosterone;Androxal
5 DEC-205/NY-ESO-1 Fusion Protein CDX-1401, Poly ICLC, and IDO1 Inhibitor INCB024360 in Treating Patients With Ovarian, Fallopian Tube, or Primary Peritoneal Cancer in Remission Recruiting NCT02166905 Phase 1, Phase 2 Epacadostat;Poly ICLC
6 Efficacy and Safety Study of Cediranib in Combination With Olaparib in Patients With Recurrent Platinum-Resistant Ovarian Cancer Recruiting NCT02889900 Phase 2 cediranib and olaparib
7 Combination Chemotherapy With or Without Oregovomab Followed by Stereotactic Body Radiation Therapy and Nelfinavir Mesylate in Treating Patients With Locally Advanced Pancreatic Cancer Recruiting NCT01959672 Phase 2 Fluorouracil;Gemcitabine Hydrochloride;Leucovorin Calcium;Nelfinavir Mesylate
8 Hypofractionated Stereotactic Body Radiation Therapy and Fluorouracil or Capecitabine With or Without Zoledronic Acid in Treating Patients With Locally Advanced Pancreatic Cancer Recruiting NCT03073785 Phase 2 Capecitabine;Fluorouracil;Zoledronic Acid
9 Neoadjuvant Chemotherapy Followed by Radiation Therapy and Gemcitabine/Sorafenib/Vorinostat in Pancreatic Cancer Recruiting NCT02349867 Phase 1 Gemcitabine;Sorafenib;Vorinostat
10 Vaccine Therapy and Cyclophosphamide in Treating Patients With Stage II-III Breast or Stage II-IV Ovarian, Primary Peritoneal, or Fallopian Tube Cancer Active, not recruiting NCT01606241 Phase 1 Cyclophosphamide
11 Electronic Monitoring Device of Patient-Reported Outcomes and Function in Improving Patient-Centered Care in Patients With Gastrointestinal Cancer Undergoing Surgery Active, not recruiting NCT02511821
12 Patient Derived Cancer Cell Lines in Identifying Molecular Changes in Patients With Previously Untreated Pancreatic Cancer Receiving Gemcitabine Hydrochloride-Based Chemotherapy Withdrawn NCT02414100

Search NIH Clinical Center for Multiple Endocrine Neoplasia Iib

Cochrane evidence based reviews: multiple endocrine neoplasia type 2b

Genetic Tests for Multiple Endocrine Neoplasia Iib

Genetic tests related to Multiple Endocrine Neoplasia Iib:

id Genetic test Affiliating Genes
1 Multiple Endocrine Neoplasia, Type 2b 29
2 Multiple Endocrine Neoplasia Type 2b 24

Anatomical Context for Multiple Endocrine Neoplasia Iib

MalaCards organs/tissues related to Multiple Endocrine Neoplasia Iib:

39
Thyroid, Tongue, Colon, Testes, Bone, Breast, Skin

Publications for Multiple Endocrine Neoplasia Iib

Articles related to Multiple Endocrine Neoplasia Iib:

id Title Authors Year
1
Cutaneous metastasis of pheochromocytoma in multiple endocrine neoplasia IIB. ( 16844526 )
2006
2
The significance of cystic adrenal lesions in multiple endocrine neoplasia IIB syndrome. ( 15455172 )
2004
3
Primary carcinoid of the prostate in conjunction with multiple endocrine neoplasia IIb in a child. ( 7853568 )
1995
4
Multiple endocrine neoplasia IIb: an unusual cause of chronic constipation. ( 1967640 )
1990
5
Early total thyroidectomy in patients with multiple endocrine neoplasia IIb syndrome. ( 2573160 )
1989

Variations for Multiple Endocrine Neoplasia Iib

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

71
id 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 Iib:

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1 RET NM_020975.4(RET): c.1901G> A (p.Cys634Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
2 RET NM_020630.4(RET): c.1859G> A (p.Cys620Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
3 RET NM_020975.4(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic/Likely pathogenic rs75076352 GRCh37 Chromosome 10, 43609948: 43609948
4 RET NM_020630.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic/Likely pathogenic rs77709286 GRCh37 Chromosome 10, 43609950: 43609950
5 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic/Likely pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
6 RET NM_020630.4(RET): c.1859G> T (p.Cys620Phe) single nucleotide variant Pathogenic rs77503355 GRCh37 Chromosome 10, 43609103: 43609103
7 RET NM_020630.4(RET): c.1852T> C (p.Cys618Arg) single nucleotide variant Pathogenic/Likely pathogenic rs76262710 GRCh37 Chromosome 10, 43609096: 43609096
8 RET NM_020630.4(RET): c.2304G> C (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh37 Chromosome 10, 43613840: 43613840
9 RET NM_020975.4(RET): c.1826G> A (p.Cys609Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs77939446 GRCh37 Chromosome 10, 43609070: 43609070
10 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh37 Chromosome 10, 43620335: 43620335
11 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic/Likely pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
12 RET NM_020975.4(RET): c.2671T> G (p.Ser891Ala) single nucleotide variant Pathogenic/Likely pathogenic rs75234356 GRCh37 Chromosome 10, 43615592: 43615592
13 RET NM_020975.4(RET): c.1853G> A (p.Cys618Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs79781594 GRCh37 Chromosome 10, 43609097: 43609097
14 RET NM_020630.4(RET): c.1888T> C (p.Cys630Arg) single nucleotide variant Pathogenic/Likely pathogenic rs377767404 GRCh37 Chromosome 10, 43609936: 43609936
15 RET NM_020630.4(RET): c.2304G> T (p.Glu768Asp) single nucleotide variant Pathogenic/Likely pathogenic rs78014899 GRCh37 Chromosome 10, 43613840: 43613840
16 RET NM_020630.4(RET): c.2410G> C (p.Val804Leu) single nucleotide variant Pathogenic/Likely pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
17 RET NM_020975.4(RET): c.2647_2648delGCinsTT (p.Ala883Phe) indel Pathogenic/Likely pathogenic rs377767429 GRCh37 Chromosome 10, 43615568: 43615569

Expression for Multiple Endocrine Neoplasia Iib

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

Pathways for Multiple Endocrine Neoplasia Iib

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

id 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
11.48 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 Iib

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.78 EDNRB GDNF GFRA1 RET
2 MAPK cascade GO:0000165 9.67 GDNF GFRA1 MEN1 RET
3 axon guidance GO:0007411 9.62 GDNF GFRA1 RET RYK
4 ureteric bud development GO:0001657 9.52 GDNF RET
5 branching involved in ureteric bud morphogenesis GO:0001658 9.51 GDNF PTCH1
6 negative regulation of osteoblast differentiation GO:0045668 9.49 MEN1 PTCH1
7 peripheral nervous system development GO:0007422 9.46 EDNRB GDNF
8 vasodilation GO:0042311 9.43 CALCA EDNRB
9 neural crest cell migration GO:0001755 9.33 EDNRB GDNF RET
10 posterior midgut development GO:0007497 9.26 EDNRB RET
11 response to pain GO:0048265 9.13 CALCA EDNRB RET
12 commissural neuron axon guidance GO:0071679 9.1 RYK
13 enteric nervous system development GO:0048484 8.8 EDNRB GDNF RET

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

id Name GO ID Score Top Affiliating Genes
1 receptor binding GO:0005102 9.26 CALCA GDNF GFRA1 NCK1
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.8 GDNF GFRA1 RET

Sources for Multiple Endocrine Neoplasia Iib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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