MCID: AML002
MIFTS: 41

Amelogenesis Imperfecta malady

Categories: Genetic diseases, Rare diseases, Oral diseases, Nephrological diseases

Aliases & Classifications for Amelogenesis Imperfecta

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Sources:
32LifeMap Discovery®, 10Disease Ontology, 68Wikipedia, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 27ICD10, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Amelogenesis Imperfecta:

Name: Amelogenesis Imperfecta 32 10 68 45 23 47 12 51 36
Congenital Enamel Hypoplasia 23
 
Aortic Valve Insufficiency 65
Ai 23

Characteristics:

Orphanet epidemiological data:

51
amelogenesis imperfecta:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked dominant,X-linked recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology10 DOID:2187
ICD1027 K00.5
MeSH36 D000567
Orphanet51 88661
SNOMED-CT59 78494001
UMLS via Orphanet66 C0002452
ICD10 via Orphanet28 K00.5
MESH via Orphanet37 D000567
UMLS65 C0002452

Summaries for Amelogenesis Imperfecta

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NIH Rare Diseases:45 Amelogenesis imperfecta (ai) (amelogenesis - enamel formation; imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. this condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. these dental problems, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth. there are 4 main types of ai that are classified based on the type of enamel defect. these 4 types are divided further into 14 subtypes, which are distinguished by their specific dental abnormalities and by their pattern of inheritance. ai can be inherited in an autosomal dominant, autosomal recessive or x-linked recessive pattern. last updated: 12/12/2013

MalaCards based summary: Amelogenesis Imperfecta, also known as congenital enamel hypoplasia, is related to amelogenesis imperfecta hypoplastic type, ig and amelogenesis imperfecta, type 1e. An important gene associated with Amelogenesis Imperfecta is AMELX (Amelogenin, X-Linked). Affiliated tissues include bone, thyroid and breast, and related mouse phenotypes are craniofacial and growth/size/body region.

Disease Ontology:10 A dental enamel hypoplasia characterized by abnormal enamel formation.

Genetics Home Reference:23 Amelogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and permanent (adult) teeth.

Wikipedia:68 Amelogenesis imperfecta (AI) presents with a rare abnormal formation of the enamel or external layer of... more...

Related Diseases for Amelogenesis Imperfecta

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Diseases in the Amelogenesis Imperfecta family:

Amelogenesis Imperfecta, Type Ia Amelogenesis Imperfecta, Type Ih
Amelogenesis Imperfecta, Type if Amelogenesis Imperfecta, Type Ib
Amelogenesis Imperfecta, Type Ic Amelogenesis Imperfecta, Type Iii
Amelogenesis Imperfecta, Type Iv Amelogenesis Imperfecta, Type Ig
Amelogenesis Imperfecta, Type 1e

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

(show top 50)    (show all 360)
idRelated DiseaseScoreTop Affiliating Genes
1amelogenesis imperfecta hypoplastic type, ig33.0AMELX, KLK4, MMP20, WDR72
2amelogenesis imperfecta, type 1e12.8
3amelogenesis imperfecta, type iv12.8
4amelogenesis imperfecta, type iia112.8
5amelogenesis imperfecta, type iii12.8
6amelogenesis imperfecta, type ib12.8
7amelogenesis imperfecta, type ic12.8
8amelogenesis imperfecta, type iia212.7
9amelogenesis imperfecta, type ig12.7
10amelogenesis imperfecta, type iia412.7
11amelogenesis imperfecta, type iia312.7
12amelogenesis imperfecta, type ia12.7
13amelogenesis imperfecta, type if12.7
14amelogenesis imperfecta, type ih12.7
15amelogenesis imperfecta, type iia512.7
16amelogenesis imperfecta hypomaturation type12.5
17hypoplastic amelogenesis imperfecta12.5
18amelogenesis imperfecta local hypoplastic12.5
19amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 212.5
20brachyolmia-amelogenesis imperfecta syndrome12.5
21hypocalcified amelogenesis imperfecta12.5
22amelogenesis imperfecta pigmented hypomaturation type12.4
23amelogenesis imperfecta-gingival hyperplasia syndrome12.4
24trichodysplasia-amelogenesis imperfecta syndrome12.4
25jalili syndrome12.2
26androgen insensitivity11.9
27kohlschutter-tonz syndrome11.9
28dental anomalies and short stature11.9
29aland island eye disease11.8
30verloes bourguignon syndrome11.7
31autoimmune inner ear disease11.6
32lubinsky syndrome11.4
33amelo-cerebro-hypohidrotic syndrome11.4
34hypergonadotropic hypogonadism-cataract syndrome11.4
35pediatric arterial ischemic stroke11.4
36amish infantile epilepsy syndrome11.3
37adolescent idiopathic scoliosis11.3
38endotheliitis10.6
39hepatocellular carcinoma10.5
40breast cancer10.5
41gastric cancer10.5
42adenocarcinoma10.5
43heimler syndrome 210.5
44heimler syndrome 110.5
45tricho-dento-osseous syndrome10.5
46leukemia10.4
47prostatitis10.4
48colorectal cancer10.4
49retinitis10.4
50pancreatitis10.4

Graphical network of the top 20 diseases related to Amelogenesis Imperfecta:



Diseases related to amelogenesis imperfecta

Symptoms for Amelogenesis Imperfecta

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Drugs & Therapeutics for Amelogenesis Imperfecta

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Factors of Genetic Susceptibility Associated to Severe Caries PhenotypeCompletedNCT00541060
2Amelogenesis ImperfectaRecruitingNCT01746121
3Orodental Manifestations of Rare DiseasesRecruitingNCT02397824

Search NIH Clinical Center for Amelogenesis Imperfecta


Cochrane evidence based reviews: amelogenesis imperfecta

Genetic Tests for Amelogenesis Imperfecta

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Anatomical Context for Amelogenesis Imperfecta

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MalaCards organs/tissues related to Amelogenesis Imperfecta:

33
Bone, Thyroid, Breast, Lung, T cells, Heart, Liver

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Amelogenesis Imperfecta:
id TissueAnatomical CompartmentCell Relevance
1 ToothDental EnamelAmeloblasts Affected by disease
2 ToothDental EnamelEarly Ameloblasts Affected by disease

Animal Models for Amelogenesis Imperfecta or affiliated genes

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MGI Mouse Phenotypes related to Amelogenesis Imperfecta:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053827.0AMBN, ENAM, FAM20A, KLK4, MMP20, WDR72
2MP:00053786.8AMBN, DLX3, ENAM, FAM20A, KLK4, MMP20

Publications for Amelogenesis Imperfecta

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Articles related to Amelogenesis Imperfecta:

(show top 50)    (show all 444)
idTitleAuthorsYear
1
CXCR4 promotes GSK3I^ expression in pancreatic cancer cells via the Akt pathway. (25145299)
2015
2
Multifunctional nanoparticle-EpCAM aptamer bioconjugates: a paradigm for targeted drug delivery and imaging in cancer therapy. (25240596)
2015
3
Oncostatin m is produced in adipose tissue and is regulated in conditions of obesity and type 2 diabetes. (24297795)
2014
4
Gestational Hypertension and Preeclampsia in Living Kidney Donors. (25397608)
2014
5
Upregulation of CHOP/GADD153 during coronavirus infectious bronchitis virus infection modulates apoptosis by restricting activation of the extracellular signal-regulated kinase pathway. (23678184)
2013
6
Ischemic heart disease after breast cancer radiotherapy. (23802526)
2013
7
New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome. (23602329)
2013
8
Foveal slope measurements in subjects with high-risk of age-related macular degeneration. (24104710)
2013
9
Monomeric 14-3-3IP has a chaperone-like activity and is stabilized by phosphorylated HspB6. (22794279)
2012
10
Old and new HLA associations with ankylosing spondylitis. (22881057)
2012
11
Idiopathic hemorrhagic pericardial effusion as a precursor to epicardial lymphosarcoma in three cows. (22676351)
2012
12
Integrated, genome-wide screening for hypomethylated oncogenes in salivary gland adenoid cystic carcinoma. (21551254)
2011
13
Pituitary abscess with panhypopituitarism showing T1 signal hyperintensity of the marginal pituitary area: a non-invasive differential diagnosis of pituitary abscess and pituitary apoplexy. (19293544)
2009
14
Heparin treatment for severe hypertriglyceridemia in diabetic ketoacidosis. (19667310)
2009
15
An oncolytic adenovirus expressing granulocyte macrophage colony-stimulating factor shows improved specificity and efficacy for treating human solid tumors. (18670453)
2009
16
Cardiovascular disease risk biomarkers and liver and kidney function are not altered in postmenopausal women after ingesting an elderberry extract rich in anthocyanins for 12 weeks. (19793846)
2009
17
Targeted inhibition of the EGFR pathways enhances Zn-BC-AM PDT-induced apoptosis in well-differentiated nasopharyngeal carcinoma cells. (19816982)
2009
18
S100-annexin complexes--structural insights. (18795951)
2008
19
Comparative in vitro activity of tigecycline against enterobacteria producing two or more extended-spectrum beta-lactamases. (18789848)
2008
20
Meeting report of immunology and skin disease: new perspectives. (17632556)
2007
21
Severe head injury: control of physiological variables, organ failure and complications in the intensive care unit. (17711565)
2007
22
Inflammatory infiltrate, microvessel density, nitric oxide synthase expression, vascular endothelial growth factor expression, and proliferative activity in peri-implant soft tissues around titanium and zirconium oxide healing caps. (16579706)
2006
23
Leptin does not induce hypertrophy, cell cycle alterations, or production of MCP-1 in cultured rat and mouse cardiomyocytes. (16433256)
2005
24
Keeping DCs awake by putting SOCS1 to sleep. (15797506)
2005
25
Three-dimensional solution structure of a unique S100 protein. (16122705)
2005
26
Warfarin resistance in a French strain of rats. (16421894)
2005
27
Eph receptors in the adult brain. (15194108)
2004
28
Distribution of syndecans 1-4 within the anterior segment of the human eye: expression of a variant syndecan-3 and matrix-associated syndecan-2. (15183101)
2004
29
Little evidence for involvement of MLH3 in colorectal cancer predisposition. (12800209)
2003
30
Using reticulocyte indices to identify alpha-thalassemia--a preliminary report. (12971500)
2002
31
The antimicrobial natural product chuangxinmycin and some synthetic analogues are potent and selective inhibitors of bacterial tryptophanyl tRNA synthetase. (12372526)
2002
32
Elevated inferior petrosal sinus levels of PTHrP in a patient with Cushing's disease. (11318794)
2001
33
Complications and prognostic factors in Vogt-Koyanagi-Harada disease. (11336934)
2001
34
Actin polymerization is essential for pollen tube growth. (11514633)
2001
35
Peroxynitrite activates mitogen-activated protein kinase (MAPK) via a MEK-independent pathway: a role for protein kinase C. (11418104)
2001
36
Connective tissue growth factor: what's in a name? (11001822)
2000
37
2-(oxalylamino)-benzoic acid is a general, competitive inhibitor of protein-tyrosine phosphatases. (10702277)
2000
38
Cell turnover parameters in small and large cell varieties of primary intestinal non-Hodgkin's lymphoma. (9655306)
1998
39
The relative ability of human papillomavirus type 6 and human papillomavirus type 16 E7 proteins to transactivate E2F-responsive elements is promoter- and cell-dependent. (9426463)
1997
40
Kleine-Levin syndrome in a boy with Prader-Willi syndrome. (8650457)
1996
41
Risk factors for acute hypersensitivity reactions in hemodialysis]. (9064565)
1996
42
Doppler echocardiography in familial hypertrophic cardiomyopathy: the French Cooperative Study. (10150472)
1995
43
Pathogenesis of Aleutian mink disease parvovirus infection: effects of suppression of antibody response on viral mRNA levels and on development of acute disease. (8289377)
1994
44
Molecular cloning of the B-CAM cell surface glycoprotein of epithelial cancers: a novel member of the immunoglobulin superfamily. (7954395)
1994
45
Mild pulmonary, but severe hepatic disease in a cystic fibrosis patient homozygous for a frameshift mutation in the regulatory domain of the CFTR. (7686577)
1993
46
Serum concentrations of total sialic acid and sialoglycoproteins in relation to coronary heart disease risk markers. (7507325)
1993
47
Cholecystokinin's role in regulation of colonic motility in health and in irritable bowel syndrome. (1587408)
1992
48
Complement, neutrophil, and macrophage activation in women with severe preeclampsia and the syndrome of hemolysis, elevated liver enzymes, and low platelet count. (1727579)
1992
49
Mandibulofacial dysostosis (Treacher--Collins syndrome). (903733)
1977
50
Imperforate anus complicating pregnancy. (13104531)
1953

Variations for Amelogenesis Imperfecta

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Expression for genes affiliated with Amelogenesis Imperfecta

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Search GEO for disease gene expression data for Amelogenesis Imperfecta.

Pathways for genes affiliated with Amelogenesis Imperfecta

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GO Terms for genes affiliated with Amelogenesis Imperfecta

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Biological processes related to Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1odontogenesis of dentin-containing toothGO:00424759.8AMELX, ENAM
2amelogenesisGO:00971869.7KLK4, MMP20
3biomineral tissue developmentGO:00312147.9AMBN, AMELX, FAM20A, FAM83H, KLK4

Sources for Amelogenesis Imperfecta

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet