MCID: AML029
MIFTS: 46

Ameloblastoma

Categories: Cancer diseases, Oral diseases, Rare diseases

Aliases & Classifications for Ameloblastoma

MalaCards integrated aliases for Ameloblastoma:

Name: Ameloblastoma 12 20 58 54 15 70
Adenoameloblastoma 20 70

Characteristics:

Orphanet epidemiological data:

58
ameloblastoma
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0050894
ICD10 via Orphanet 33 D16.4 D16.5
UMLS via Orphanet 71 C0002448
Orphanet 58 ORPHA314419
UMLS 70 C0002448 C0334565

Summaries for Ameloblastoma

GARD : 20 Ameloblastoma is a rare, noncancerous (benign) tumor that typically develops in the jaw near the molars. It originates in the cells that form the enamel that protects your teeth. The condition most often occurs in adults in their 30s and 40s, though it can occur at any age. In many cases, the first sign is painless swelling in the jaw. While it can be very aggressive, these tumors are rarely found outside of the jaw. Treatment is complete surgical removal of the affected tissue.

MalaCards based summary : Ameloblastoma, also known as adenoameloblastoma, is related to calcifying epithelial odontogenic tumor and squamous cell papilloma. An important gene associated with Ameloblastoma is AMBN (Ameloblastin), and among its related pathways/superpathways are Gastric cancer and Relaxin signaling pathway. The drugs Trametinib and Dabrafenib have been mentioned in the context of this disorder. Affiliated tissues include bone, smooth muscle and lymph node, and related phenotypes are growth/size/body region and mortality/aging

Disease Ontology : 12 A cell type benign neoplasm that has material basis in odontogenic epithelium.

Wikipedia : 73 Ameloblastoma is a rare, benign or cancerous tumor of odontogenic epithelium (ameloblasts, or outside... more...

Related Diseases for Ameloblastoma

Diseases related to Ameloblastoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 295)
# Related Disease Score Top Affiliating Genes
1 calcifying epithelial odontogenic tumor 31.6 TP53 PTCH1 KRT8 AMBN
2 squamous cell papilloma 30.8 TP53 KRT14
3 keratocystic odontogenic tumor 30.7 TP53 TNFSF11 SMO PTCH1 GLI1 CALB2
4 fibroma 30.6 SERPINA3 PTCH1 KRT14 CALB2
5 carcinosarcoma 30.4 TP53 KRAS CALB2
6 odontoma 30.4 KRT8 KRT19 KRT18 KRT14
7 oral cancer 30.3 TP53 MMP2 KRT19
8 squamous cell carcinoma 30.2 TP53 PTCH1 MMP2 KRT19 CDKN1B
9 basal cell nevus syndrome 30.2 TP53 SMO PTCH1 KRT14 GLI1
10 basaloid squamous cell carcinoma 30.1 TP53 KRT8 KRT19 KRT14
11 oncocytoma 30.1 KRT8 KRT19 KRT18 KRT14
12 adenoid cystic carcinoma 30.0 TP53 SERPINA3 MMP2 KRT19 KRT14 KRAS
13 papilloma 29.9 TP53 KRT8 KRT14 KRT1 KRAS CDKN1B
14 mixed cell type cancer 29.9 TP53 SERPINA3 KRAS CALB2
15 mucoepidermoid carcinoma 29.9 TP53 SERPINA3 KRT19 KRT14 CDKN1B
16 tooth resorption 29.9 TNFSF11 SERPINA3 AMELX AMBN
17 craniopharyngioma 29.7 PTCH1 MMP20 KRT8 KRT14
18 rhabdomyosarcoma 29.5 TP53 PTCH1 MMP2 KRAS GLI1 CDKN1B
19 lung cancer susceptibility 3 29.2 TP53 TERT MMP2 KRT19 KRAS CALB2
20 basal cell carcinoma 29.0 TP53 TERT SMO PTCH1 MMP2 KRT8
21 neuroblastoma 28.9 TP53 TERT PTCH1 MMP2 KRT1 CDKN1B
22 bone ameloblastoma 11.0
23 schimmelpenning-feuerstein-mims syndrome 10.9
24 ameloblastic carcinoma 10.6
25 pancreatic signet ring cell adenocarcinoma 10.4 TP53 KRAS
26 clear cell cystadenofibroma 10.4 TP53 CALB2
27 cystadenofibroma 10.4 TP53 CALB2
28 rare tumor 10.4
29 trachea carcinoma in situ 10.4 KRT14 KRAS
30 fallopian tube carcinosarcoma 10.4 TP53 CALB2
31 root resorption 10.4
32 fibroepithelial basal cell carcinoma 10.4 PTCH1 KRT14
33 rare odontogenic tumor 10.4
34 laryngeal neuroendocrine tumor 10.4 TP53 PTCH1
35 basosquamous carcinoma 10.4 TP53 PTCH1
36 esophageal basaloid squamous cell carcinoma 10.4 TP53 KRT14
37 bone giant cell sarcoma 10.3 TP53 TNFSF11 KRAS
38 micronodular basal cell carcinoma 10.3 PTCH1 KRT14
39 wolffian duct adenocarcinoma 10.3 KRAS CALB2
40 undifferentiated embryonal sarcoma of the liver 10.3 TP53 SERPINA3
41 papillary serous adenocarcinoma 10.3 TP53 KRAS CALB2
42 serous cystadenocarcinoma 10.3 TP53 MMP2 KRAS
43 large cell acanthoma 10.3 TP53 KRT14
44 maxillary sinus adenocarcinoma 10.3 TP53 CDKN1B
45 ovarian serous carcinoma 10.3 TP53 KRAS CALB2
46 bone resorption disease 10.3
47 benign teratoma 10.3 TP53 PTCH1 CALB2
48 seminal vesicle adenocarcinoma 10.3 KRT18 KRAS CALB2
49 liver angiosarcoma 10.3 TP53 KRT19 KRAS
50 biliary tract benign neoplasm 10.3 TP53 KRT19 KRAS

Graphical network of the top 20 diseases related to Ameloblastoma:



Diseases related to Ameloblastoma

Symptoms & Phenotypes for Ameloblastoma

MGI Mouse Phenotypes related to Ameloblastoma:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.48 AMBN BSG CDKN1B GLI1 KRAS KRT1
2 mortality/aging MP:0010768 10.37 BSG CDKN1B GLI1 KRAS KRT1 KRT14
3 craniofacial MP:0005382 10.36 AMBN CDKN1B GLI1 KRAS KRT14 KRT19
4 immune system MP:0005387 10.31 BSG CDKN1B KRAS KRT1 KRT14 KRT19
5 digestive/alimentary MP:0005381 10.27 CDKN1B GLI1 KRAS KRT14 KRT19 KRT8
6 endocrine/exocrine gland MP:0005379 10.26 BSG CDKN1B GLI1 KRAS KRT14 KRT19
7 embryo MP:0005380 10.22 CDKN1B GLI1 KRAS KRT18 KRT19 KRT8
8 integument MP:0010771 10.22 CDKN1B KRAS KRT1 KRT14 KRT19 PTCH1
9 nervous system MP:0003631 10.21 BSG CALB2 CDKN1B GLI1 KRAS KRT1
10 neoplasm MP:0002006 10.2 AMBN CDKN1B GLI1 KRAS KRT14 KRT19
11 liver/biliary system MP:0005370 10.11 BSG CDKN1B KRAS KRT18 KRT19 KRT8
12 muscle MP:0005369 10.08 BSG CDKN1B KRAS MMP2 PTCH1 SMO
13 normal MP:0002873 10.07 CALB2 GLI1 KRAS KRT19 MMP2 PTCH1
14 reproductive system MP:0005389 10 BSG CDKN1B GLI1 KRAS KRT14 KRT19
15 no phenotypic analysis MP:0003012 9.95 CDKN1B GLI1 KRAS KRT19 PTCH1 TNFSF11
16 respiratory system MP:0005388 9.93 BSG CDKN1B GLI1 KRAS KRT14 KRT19
17 pigmentation MP:0001186 9.8 CDKN1B KRAS KRT1 KRT14 PTCH1 TP53
18 skeleton MP:0005390 9.65 AMBN CDKN1B KRAS KRT19 MMP2 PTCH1
19 vision/eye MP:0005391 9.32 AMBN BSG CDKN1B KRAS KRT14 MMP2

Drugs & Therapeutics for Ameloblastoma

Drugs for Ameloblastoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trametinib Approved Phase 2 871700-17-3 11707110
2
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
3 Protein Kinase Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot Study of Dabrafenib and Trametinib for Patients With BRAF Mutated Ameloblastoma Completed NCT02367859 Phase 2 Dabrafenib;Trametinib

Search NIH Clinical Center for Ameloblastoma

Genetic Tests for Ameloblastoma

Anatomical Context for Ameloblastoma

MalaCards organs/tissues related to Ameloblastoma:

40
Bone, Smooth Muscle, Lymph Node, Salivary Gland, Skin, Thyroid, Endothelial

Publications for Ameloblastoma

Articles related to Ameloblastoma:

(show top 50) (show all 3182)
# Title Authors PMID Year
1
Expression and role of metalloproteinase-2 and endogenous tissue regulator in ameloblastoma. 61 54
19709349 2010
2
Expression of osteonectin/secreted protein acidic and rich in cysteine and matrix metalloproteinases in ameloblastoma. 54 61
20070483 2010
3
Tissue inhibitor of metalloproteinase-2 inhibits ameloblastoma growth in a new mouse xenograft disease model. 61 54
19895658 2010
4
Expression of RECK and matrix metalloproteinase-2 in ameloblastoma. 61 54
19995435 2009
5
Immunoexpression of MMPs-1, -2, and -9 in ameloblastoma and odontogenic adenomatoid tumor. 61 54
19522745 2009
6
Critical role of heparin binding domains of ameloblastin for dental epithelium cell adhesion and ameloblastoma proliferation. 54 61
19648121 2009
7
[Characterization of growth and proliferation in a telomerase-immortalized ameloblastoma cell line]. 61 54
19961754 2009
8
The immunoprofile of odontogenic keratocyst (keratocystic odontogenic tumor) that includes expression of PTCH, SMO, GLI-1 and bcl-2 is similar to ameloblastoma but different from odontogenic cysts. 61 54
19473442 2009
9
Presence of myofibroblasts and expression of matrix metalloproteinase-2 (MMP-2) in ameloblastomas correlate with rupture of the osseous cortical. 61 54
19096916 2009
10
Apoptosis-related factors (TRAIL, DR4, DR5, DcR1, DcR2, apoptotic cells) and proliferative activity in ameloblastomas. 61 54
19414356 2009
11
[Correlations of extrocellular matrix metalloproteinase inducer and microvessel density to invasiveness of ameloblastoma]. 61 54
19079990 2008
12
Evaluation of cell cycle-related indicators in plexiform ameloblastoma. 54 61
20424660 2008
13
Suppression of local invasion of ameloblastoma by inhibition of matrix metalloproteinase-2 in vitro. 54 61
18588710 2008
14
Midkine expression correlating with growth activity and tooth morphogenesis in odontogenic tumors. 54 61
18329695 2008
15
Calretinin expression in the differential diagnosis of human ameloblastoma and keratocystic odontogenic tumor. 54 61
18223328 2008
16
Unicystic ameloblastoma with the presence of dentin. 54 61
17687176 2007
17
[Expression of cyclin D1 and its inhibitors and hTERT in ameloblastoma]. 54 61
17334067 2006
18
[Mutation and polymorphism of the ameloblastin gene in ameloblastomas]. 61 54
17331365 2006
19
Osteoprotegerin (OPG) binds with tumor necrosis factor-related apoptosis-inducing ligand (TRAIL): suppression of TRAIL-induced apoptosis in ameloblastomas. 61 54
16413220 2006
20
[Association of matrix metalloproteinase-2 activity with cell proliferation and growth in ameloblastoma]. 54 61
16541644 2006
21
Polymorphisms in PTCH1 affect the risk of ameloblastoma. 54 61
16109989 2005
22
TRAIL cleaves caspase-8, -9 and -3 of AM-1 cells: a possible pathway for TRAIL to induce apoptosis in ameloblastoma. 61 54
16110259 2005
23
[Expression of p21WAF1, p27KIP1 and cyclin E in ameloblastoma]. 61 54
16191374 2005
24
Ameloblastoma induces osteoclastogenesis: a possible role of ameloblastoma in expanding in the bone. 61 54
15935726 2005
25
Expression of tumor necrosis factor alpha, TNF-related apoptosis-inducing ligand, and their associated molecules in ameloblastomas. 61 54
15817072 2005
26
TNFalpha played a role in induction of Akt and MAPK signals in ameloblastoma. 61 54
15792609 2005
27
Proliferating cell nuclear antigen (PCNA) and p53 protein expression in ameloblastoma and adenomatoid odontogenic tumor. 61 54
16113935 2005
28
[Expression of pRb and E2F-1 and telomerase activity in ameloblastoma]. 61 54
15498350 2004
29
Expression of Sonic hedgehog (SHH) signaling molecules in ameloblastomas. 54 61
15128061 2004
30
Expression of parathyroid hormone-related protein (PTHrP), osteoclast differentiation factor (ODF)/receptor activator of nuclear factor-kappaB ligand (RANKL) and osteoclastogenesis inhibitory factor (OCIF)/osteoprotegerin (OPG) in ameloblastomas. 61 54
14675140 2004
31
[Expression of human telomerase reverse transcriptase and bcl-2 in ameloblastoma]. 54 61
14732976 2003
32
[Expression of telomerase activity and cyclin A in ameloblastoma]. 54 61
12930651 2003
33
Proliferating cell nuclear antigen and Ki67 immunoreactivity in ameloblastomas. 54 61
12582363 2003
34
[Proliferating activity and differentiation between peripheral cells and central cells in ameloblastoma]. 61 54
11955366 2002
35
Neural cell adhesion molecule and neurothelin expression in human ameloblastoma. 54 61
11474447 2001
36
Use of calretinin in the differential diagnosis of unicystic ameloblastomas. 61 54
11318896 2001
37
Telomerase activity and telomerase reverse transciptase (TERT) expression in ameloblastomas. 54 61
11302243 2001
38
Immunohistochemical evaluation of PCNA and Ki-67 in ameloblastoma. 54 61
11167148 2001
39
Different keratin profiles in craniopharyngioma subtypes and ameloblastomas. 61 54
11770017 2001
40
Calretinin expression in ameloblastomas. 54 61
10931215 2000
41
Expression of proliferating cell nuclear antigen in ameloblastomas and odontogenic cysts. 54 61
9861350 1998
42
[A study of epithelial cell kinetics of the odontogenic keratocyst]. 61 54
11774634 1998
43
Comparison of proliferating cell nuclear antigen expression in odontogenic keratocyst and ameloblastoma: an immunohistochemical study. 61 54
9762365 1998
44
Enamel epithelium expresses bone sialoprotein (BSP). 61 54
9541244 1998
45
Neoplastic odontogenic epithelial cells express bone sialoprotein. 61 54
9539200 1998
46
Immunohistochemical detection of proliferating cell nuclear antigen (PCNA) in 23 cases of ameloblastoma. 61 54
8944836 1996
47
Granular cell ameloblastoma. An immunocytochemical study. 54 61
8857640 1996
48
Immunohistochemical detection of alpha 1-antitrypsin, alpha 1-antichymotrypsin, transferrin and ferritin in ameloblastoma. 61 54
7492517 1995
49
Expression of proliferating cell nuclear antigen (PCNA) and Ki-67 in unicystic ameloblastoma. 61 54
7797199 1995
50
Cytoskeletal gene expression in normal and neoplastic human odontogenic epithelia. 61 54
1721670 1991

Variations for Ameloblastoma

Expression for Ameloblastoma

Search GEO for disease gene expression data for Ameloblastoma.

Pathways for Ameloblastoma

Pathways related to Ameloblastoma according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.57 TP53 TNFSF11 TERT KRAS CDKN1B
2
Show member pathways
12.47 MMP2 KRT19 KRT18 KRT14 KRAS
3
Show member pathways
12.26 KRT8 KRT19 KRT18 KRT14 KRT1
4
Show member pathways
12.09 TP53 SMO PTCH1 MMP2 GLI1
5 11.97 TP53 SMO PTCH1 MMP2 KRAS
6 11.95 TP53 TERT SMO PTCH1 MMP2 KRAS
7 11.61 TERT MMP2 KRT1
8 11.56 TP53 MMP2 KRAS
9 11.42 SMO PTCH1 GLI1
10
Show member pathways
11.39 KRT8 KRT19 KRT18 KRT14 KRT1
11 11.28 SMO PTCH1 GLI1
12 11.15 TP53 KRT8 KRT19
13 11.05 TNFSF11 SMO PTCH1 GLI1
14
Show member pathways
10.78 SMO PTCH1 GLI1

GO Terms for Ameloblastoma

Cellular components related to Ameloblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratin filament GO:0045095 9.46 KRT8 KRT18 KRT14 KRT1
2 intermediate filament GO:0005882 9.35 KRT8 KRT19 KRT18 KRT14 KRT1
3 cell periphery GO:0071944 8.92 KRT8 KRT19 KRT18 KRT14

Biological processes related to Ameloblastoma according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.99 TP53 TERT SMO KRT18 CDKN1B
2 smoothened signaling pathway GO:0007224 9.69 SMO PTCH1 GLI1
3 extracellular matrix disassembly GO:0022617 9.67 MMP20 MMP2 BSG
4 regulation of cell proliferation GO:0042127 9.65 TP53 PTCH1 CDKN1B AMELX AMBN
5 tumor necrosis factor-mediated signaling pathway GO:0033209 9.62 TP53 TNFSF11 KRT8 KRT18
6 prostate gland development GO:0030850 9.58 PTCH1 GLI1
7 commissural neuron axon guidance GO:0071679 9.58 SMO PTCH1
8 embryonic organ development GO:0048568 9.58 TP53 SMO PTCH1
9 mammary gland epithelial cell differentiation GO:0060644 9.57 SMO PTCH1
10 dorsal/ventral neural tube patterning GO:0021904 9.56 SMO PTCH1
11 negative regulation of production of miRNAs involved in gene silencing by miRNA GO:1903799 9.55 TP53 TERT
12 keratinization GO:0031424 9.55 KRT8 KRT19 KRT18 KRT14 KRT1
13 hepatocyte apoptotic process GO:0097284 9.54 KRT8 KRT18
14 dorsal/ventral pattern formation GO:0009953 9.54 SMO PTCH1 GLI1
15 smooth muscle tissue development GO:0048745 9.52 SMO PTCH1
16 cell differentiation involved in embryonic placenta development GO:0060706 9.48 KRT8 KRT19
17 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.46 SMO GLI1
18 cerebellar cortex morphogenesis GO:0021696 9.43 SMO GLI1
19 odontogenesis of dentin-containing tooth GO:0042475 9.26 SMO BSG AMELX AMBN
20 cornification GO:0070268 9.02 KRT8 KRT19 KRT18 KRT14 KRT1

Molecular functions related to Ameloblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.23 TP53 TNFSF11 TERT SMO SERPINA3 PTCH1
2 protein-containing complex binding GO:0044877 9.35 PTCH1 KRT8 KRT19 KRAS CDKN1B
3 patched binding GO:0005113 9.16 SMO PTCH1
4 structural constituent of tooth enamel GO:0030345 8.62 AMELX AMBN

Sources for Ameloblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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