MCID: AML029
MIFTS: 47

Ameloblastoma

Categories: Cancer diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Ameloblastoma

MalaCards integrated aliases for Ameloblastoma:

Name: Ameloblastoma 11 19 58 53 14 71 75
Adenoameloblastoma 19 71

Characteristics:


Age Of Onset:

All ages 58

Classifications:

Orphanet: 58  
Rare odontological diseases


External Ids:

Disease Ontology 11 DOID:0050894
ICD10 via Orphanet 32 D16.4 D16.5
UMLS via Orphanet 72 C0002448
Orphanet 58 ORPHA314419
UMLS 71 C0002448 C0334565

Summaries for Ameloblastoma

Orphanet: 58 A rare, benign, slow-growing odontologic tumor located in the mandible, and on occasion the maxilla, characterized by painless, variable-sized jaw swelling, which if left untreated may lead to a grotesque facial appearance. Occasionally, paresthesias, tooth displacement and adjacent root resorption may be associated. Local invasion is frequently observed, but malignant transformation and metastasis are not common.

MalaCards based summary: Ameloblastoma, also known as adenoameloblastoma, is related to basal cell carcinoma 1 and fibroma. An important gene associated with Ameloblastoma is AMBN (Ameloblastin), and among its related pathways/superpathways are G-Beta Gamma Signaling and Keratinization. The drugs Dabrafenib and Trametinib have been mentioned in the context of this disorder. Affiliated tissues include bone, smooth muscle and salivary gland, and related phenotypes are no effect and no effect

GARD: 19 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. These tumors are rarely found outside of the jaw.

Disease Ontology: 11 A cell type benign neoplasm that has material basis in odontogenic epithelium.

Wikipedia: 75 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 378)
# Related Disease Score Top Affiliating Genes
1 basal cell carcinoma 1 31.0 SMO PTCH1
2 fibroma 30.6 SERPINA3 PTCH1 CALB2
3 carcinosarcoma 30.4 TP53 KRAS CALB2
4 basaloid squamous cell carcinoma 30.4 TP53 KRT8 KRT14
5 lip and oral cavity cancer 30.3 TP53 MMP2 KRT19
6 lung benign neoplasm 30.3 TP53 TERT KRAS
7 odontoma 30.3 PCNA KRT8 KRT19 KRT18 KRT14
8 basal cell nevus syndrome 30.2 TP53 TERT SMO PTCH1 GLI1
9 oncocytoma 30.1 KRT8 KRT19 KRT18
10 adenoma 30.0 TP53 KRT19 KRAS CDKN1B
11 squamous cell carcinoma 30.0 TP53 TERT MMP2 KRT19 KRAS CDKN1B
12 craniopharyngioma 30.0 KRT8 KRT19 KRT18 KRT14
13 mixed cell type cancer 29.9 TP53 SERPINA3 KRAS CALB2
14 papilloma 29.8 TP53 PCNA KRT8 KRT14 KRT1 KRAS
15 adenoid cystic carcinoma 29.8 TP53 SERPINA3 PCNA KRT19 KRT14 KRAS
16 leukoplakia 29.7 PCNA KRT8 KRT1
17 basal cell carcinoma 29.7 TP53 SMO PTCH1 PCNA KRT8 KRT19
18 tooth resorption 29.7 TNFSF11 SERPINA3 AMELX AMBN
19 thyroid gland follicular carcinoma 29.6 TP53 TERT PTCH1 KRT19
20 squamous cell carcinoma, head and neck 29.5 TP53 MMP2 KRT19 KRT18 CDKN1B
21 mucoepidermoid carcinoma 29.2 SERPINA3 PCNA KRT8 KRT19 KRT18 KRT14
22 rhabdomyosarcoma 29.1 TP53 TERT PTCH1 MMP2 KRAS GLI1
23 lung cancer susceptibility 3 29.1 TP53 TERT MMP2 KRT8 KRT19 KRAS
24 breast cancer 27.5 TP53 TNFSF11 TERT SERPINA3 PCNA MMP2
25 bone ameloblastoma 11.0
26 calcifying epithelial odontogenic tumor 11.0
27 schimmelpenning-feuerstein-mims syndrome 11.0
28 polycystic liver disease 1 with or without kidney cysts 10.7
29 ameloblastic carcinoma 10.6
30 keratocystic odontogenic tumor 10.6
31 rare tumor 10.4
32 root resorption 10.4
33 bone giant cell sarcoma 10.4 TP53 TNFSF11
34 clear cell cystadenofibroma 10.4 TP53 CALB2
35 vaginal carcinosarcoma 10.4 TP53 KRAS
36 rare odontogenic tumor 10.4
37 trachea carcinoma in situ 10.4 KRT14 KRAS
38 fallopian tube carcinosarcoma 10.4 TP53 CALB2
39 bone resorption disease 10.4
40 orbital disease 10.4
41 vulvar keratinizing squamous cell carcinoma 10.3 TP53 KRT19
42 cystadenofibroma 10.3 TP53 KRAS CALB2
43 endosalpingiosis 10.3 TP53 KRAS CALB2
44 large cell carcinoma with rhabdoid phenotype 10.3 TP53 KRAS CALB2
45 pleomorphic carcinoma 10.3 TP53 KRAS CALB2
46 liver angiosarcoma 10.3 TP53 KRAS
47 adenomyosis 10.3 TP53 MMP2 KRAS
48 ovarian benign neoplasm 10.3 TP53 KRAS CALB2
49 papillary serous adenocarcinoma 10.3 TP53 KRAS CALB2
50 vulvar sebaceous carcinoma 10.3 TP53 KRT8

Graphical network of the top 20 diseases related to Ameloblastoma:



Diseases related to Ameloblastoma

Symptoms & Phenotypes for Ameloblastoma

GenomeRNAi Phenotypes related to Ameloblastoma according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.18 AMBN AMELX BSG CALB2 CDKN1B GLI1
2 no effect GR00402-S-2 10.18 AMBN AMELX BSG CALB2 CDKN1B GLI1

MGI Mouse Phenotypes related to Ameloblastoma:

45 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.49 AMBN AMELX BSG CDKN1B GLI1 KRAS
2 neoplasm MP:0002006 10.42 AMBN AMELX CDKN1B GLI1 KRAS KRT14
3 nervous system MP:0003631 10.4 BSG CALB2 CDKN1B GLI1 KRAS KRT1
4 homeostasis/metabolism MP:0005376 10.39 AMELX BSG CDKN1B KRAS KRT1 KRT14
5 endocrine/exocrine gland MP:0005379 10.34 AMELX BSG CDKN1B GLI1 KRAS KRT14
6 immune system MP:0005387 10.34 AMELX BSG CDKN1B KRAS KRT1 KRT14
7 normal MP:0002873 10.3 CALB2 GLI1 KRAS KRT19 MMP2 PTCH1
8 digestive/alimentary MP:0005381 10.27 AMELX CDKN1B GLI1 KRAS KRT14 KRT19
9 craniofacial MP:0005382 10.26 AMBN AMELX CDKN1B GLI1 KRAS KRT14
10 respiratory system MP:0005388 10.22 AMELX BSG CDKN1B GLI1 KRAS KRT14
11 reproductive system MP:0005389 10.21 AMELX BSG CDKN1B GLI1 KRAS KRT14
12 cardiovascular system MP:0005385 10.2 AMELX CDKN1B KRAS KRT1 KRT18 KRT19
13 no phenotypic analysis MP:0003012 10.19 CDKN1B GLI1 KRAS KRT19 PCNA PTCH1
14 renal/urinary system MP:0005367 10.18 AMBN BSG CDKN1B GLI1 KRAS MMP2
15 muscle MP:0005369 10.17 BSG CDKN1B KRAS MMP2 PTCH1 SMO
16 liver/biliary system MP:0005370 10.16 BSG CDKN1B KRAS KRT18 KRT19 KRT8
17 embryo MP:0005380 10.16 CDKN1B GLI1 KRAS KRT18 KRT19 KRT8
18 skeleton MP:0005390 10.1 AMBN AMELX CDKN1B GLI1 KRAS KRT19
19 pigmentation MP:0001186 10.09 CDKN1B KRAS KRT1 KRT14 PTCH1 TP53
20 hematopoietic system MP:0005397 10 AMELX BSG CDKN1B KRAS KRT1 KRT14
21 vision/eye MP:0005391 9.96 AMBN BSG CDKN1B KRAS KRT14 MMP2
22 mortality/aging MP:0010768 9.86 BSG CDKN1B GLI1 KRAS KRT1 KRT14
23 integument MP:0010771 9.44 AMBN AMELX CDKN1B KRAS KRT1 KRT14

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
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760
2
Trametinib Approved Phase 2 871700-17-3 11707110
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
2 Clinical Evaluation of Fenestration Decompression Combined With Secondary Curettage for Ameloblastoma of the Jaw: Retrospective Radiographic Analysis Completed NCT04987515

Search NIH Clinical Center for Ameloblastoma

Genetic Tests for Ameloblastoma

Anatomical Context for Ameloblastoma

Organs/tissues related to Ameloblastoma:

MalaCards : Bone, Smooth Muscle, Salivary Gland, Lymph Node, Bone Marrow, Lung, Skin

Publications for Ameloblastoma

Articles related to Ameloblastoma:

(show top 50) (show all 3394)
# Title Authors PMID Year
1
Expression and role of metalloproteinase-2 and endogenous tissue regulator in ameloblastoma. 53 62
19709349 2010
2
Expression of osteonectin/secreted protein acidic and rich in cysteine and matrix metalloproteinases in ameloblastoma. 53 62
20070483 2010
3
Tissue inhibitor of metalloproteinase-2 inhibits ameloblastoma growth in a new mouse xenograft disease model. 53 62
19895658 2010
4
Expression of RECK and matrix metalloproteinase-2 in ameloblastoma. 53 62
19995435 2009
5
Immunoexpression of MMPs-1, -2, and -9 in ameloblastoma and odontogenic adenomatoid tumor. 53 62
19522745 2009
6
Critical role of heparin binding domains of ameloblastin for dental epithelium cell adhesion and ameloblastoma proliferation. 53 62
19648121 2009
7
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. 53 62
19473442 2009
8
[Characterization of growth and proliferation in a telomerase-immortalized ameloblastoma cell line]. 53 62
19961754 2009
9
Presence of myofibroblasts and expression of matrix metalloproteinase-2 (MMP-2) in ameloblastomas correlate with rupture of the osseous cortical. 53 62
19096916 2009
10
Apoptosis-related factors (TRAIL, DR4, DR5, DcR1, DcR2, apoptotic cells) and proliferative activity in ameloblastomas. 53 62
19414356 2009
11
[Correlations of extrocellular matrix metalloproteinase inducer and microvessel density to invasiveness of ameloblastoma]. 53 62
19079990 2008
12
Evaluation of cell cycle-related indicators in plexiform ameloblastoma. 53 62
20424660 2008
13
Suppression of local invasion of ameloblastoma by inhibition of matrix metalloproteinase-2 in vitro. 53 62
18588710 2008
14
Midkine expression correlating with growth activity and tooth morphogenesis in odontogenic tumors. 53 62
18329695 2008
15
Calretinin expression in the differential diagnosis of human ameloblastoma and keratocystic odontogenic tumor. 53 62
18223328 2008
16
Unicystic ameloblastoma with the presence of dentin. 53 62
17687176 2007
17
[Expression of cyclin D1 and its inhibitors and hTERT in ameloblastoma]. 53 62
17334067 2006
18
[Mutation and polymorphism of the ameloblastin gene in ameloblastomas]. 53 62
17331365 2006
19
Osteoprotegerin (OPG) binds with tumor necrosis factor-related apoptosis-inducing ligand (TRAIL): suppression of TRAIL-induced apoptosis in ameloblastomas. 53 62
16413220 2006
20
[Association of matrix metalloproteinase-2 activity with cell proliferation and growth in ameloblastoma]. 53 62
16541644 2006
21
TRAIL cleaves caspase-8, -9 and -3 of AM-1 cells: a possible pathway for TRAIL to induce apoptosis in ameloblastoma. 53 62
16110259 2005
22
Polymorphisms in PTCH1 affect the risk of ameloblastoma. 53 62
16109989 2005
23
[Expression of p21WAF1, p27KIP1 and cyclin E in ameloblastoma]. 53 62
16191374 2005
24
Ameloblastoma induces osteoclastogenesis: a possible role of ameloblastoma in expanding in the bone. 53 62
15935726 2005
25
Expression of tumor necrosis factor alpha, TNF-related apoptosis-inducing ligand, and their associated molecules in ameloblastomas. 53 62
15817072 2005
26
TNFalpha played a role in induction of Akt and MAPK signals in ameloblastoma. 53 62
15792609 2005
27
Proliferating cell nuclear antigen (PCNA) and p53 protein expression in ameloblastoma and adenomatoid odontogenic tumor. 53 62
16113935 2005
28
[Expression of pRb and E2F-1 and telomerase activity in ameloblastoma]. 53 62
15498350 2004
29
Expression of Sonic hedgehog (SHH) signaling molecules in ameloblastomas. 53 62
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. 53 62
14675140 2004
31
[Expression of human telomerase reverse transcriptase and bcl-2 in ameloblastoma]. 53 62
14732976 2003
32
[Expression of telomerase activity and cyclin A in ameloblastoma]. 53 62
12930651 2003
33
Proliferating cell nuclear antigen and Ki67 immunoreactivity in ameloblastomas. 53 62
12582363 2003
34
[Proliferating activity and differentiation between peripheral cells and central cells in ameloblastoma]. 53 62
11955366 2002
35
Neural cell adhesion molecule and neurothelin expression in human ameloblastoma. 53 62
11474447 2001
36
Telomerase activity and telomerase reverse transciptase (TERT) expression in ameloblastomas. 53 62
11302243 2001
37
Use of calretinin in the differential diagnosis of unicystic ameloblastomas. 53 62
11318896 2001
38
Immunohistochemical evaluation of PCNA and Ki-67 in ameloblastoma. 53 62
11167148 2001
39
Different keratin profiles in craniopharyngioma subtypes and ameloblastomas. 53 62
11770017 2001
40
Calretinin expression in ameloblastomas. 53 62
10931215 2000
41
Expression of proliferating cell nuclear antigen in ameloblastomas and odontogenic cysts. 53 62
9861350 1998
42
[A study of epithelial cell kinetics of the odontogenic keratocyst]. 53 62
11774634 1998
43
Neoplastic odontogenic epithelial cells express bone sialoprotein. 53 62
9539200 1998
44
Enamel epithelium expresses bone sialoprotein (BSP). 53 62
9541244 1998
45
Comparison of proliferating cell nuclear antigen expression in odontogenic keratocyst and ameloblastoma: an immunohistochemical study. 53 62
9762365 1998
46
Immunohistochemical detection of proliferating cell nuclear antigen (PCNA) in 23 cases of ameloblastoma. 53 62
8944836 1996
47
Granular cell ameloblastoma. An immunocytochemical study. 53 62
8857640 1996
48
Immunohistochemical detection of alpha 1-antitrypsin, alpha 1-antichymotrypsin, transferrin and ferritin in ameloblastoma. 53 62
7492517 1995
49
Expression of proliferating cell nuclear antigen (PCNA) and Ki-67 in unicystic ameloblastoma. 53 62
7797199 1995
50
Cytoskeletal gene expression in normal and neoplastic human odontogenic epithelia. 53 62
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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.46 SMO PTCH1 KRT1 KRAS GLI1
2
Show member pathways
12.37 KRT8 KRT19 KRT18 KRT14 KRT1
3
Show member pathways
12.21 KRT8 KRT19 KRT18 KRT14 KRT1
4
Show member pathways
11.76 TP53 PCNA CDKN1B
5 11.75 TP53 KRAS CDKN1B
6 11.67 TP53 PCNA CDKN1B
7 11.58 TP53 TERT KRAS
8 11.56 TERT MMP2 KRT1
9 11.54 PCNA KRT8 CDKN1B
10 11.46 TP53 GLI1 CDKN1B
11 11.26 GLI1 PTCH1 SMO
12 11.18 TP53 MMP2 KRAS
13 11.12 SMO PTCH1 GLI1
14
Show member pathways
10.96 SMO PTCH1 GLI1
15 10.85 TP53 KRT8 KRT19
16 10.59 PTCH1 GLI1
17 10.53 SMO PTCH1 GLI1
18 10.52 TNFSF11 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 9.76 KRT8 KRT18 KRT14 KRT1
2 cell periphery GO:0071944 9.43 KRT8 KRT19 KRT18 KRT14
3 intermediate filament GO:0005882 9.28 KRT8 KRT19 KRT18 KRT14 KRT1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to xenobiotic stimulus GO:0009410 10.13 AMELX CDKN1B MMP2 PTCH1 TP53
2 dorsal/ventral pattern formation GO:0009953 9.93 SMO PTCH1 GLI1
3 response to oxidative stress GO:0006979 9.91 TP53 PCNA MMP2 KRT1
4 epithelial cell differentiation GO:0030855 9.91 KRT14 KRT19 PCNA SMO
5 embryonic organ development GO:0048568 9.89 TP53 SMO PTCH1
6 liver regeneration GO:0097421 9.88 PTCH1 PCNA GLI1
7 response to cadmium ion GO:0046686 9.8 TERT PCNA CDKN1B
8 regulation of cell population proliferation GO:0042127 9.8 TP53 PTCH1 CDKN1B AMELX AMBN
9 cerebellar cortex morphogenesis GO:0021696 9.76 SMO GLI1
10 intermediate filament organization GO:0045109 9.76 KRT8 KRT19 KRT14 KRT1
11 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.73 SMO GLI1
12 cell differentiation involved in embryonic placenta development GO:0060706 9.7 KRT8 KRT19
13 odontogenesis of dentin-containing tooth GO:0042475 9.56 SMO BSG AMELX AMBN
14 tumor necrosis factor-mediated signaling pathway GO:0033209 9.17 TP53 TNFSF11 KRT8 KRT18

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of tooth enamel GO:0030345 8.92 AMELX AMBN

Sources for Ameloblastoma

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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