MCID: AML002
MIFTS: 45

Amelogenesis Imperfecta malady

Genetic diseases, Rare diseases, Oral diseases categories

Aliases & Classifications for Amelogenesis Imperfecta

About this section
Sources:
30LifeMap Discovery®, 9Disease Ontology, 63Wikipedia, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 27ICD9CM, 55SNOMED-CT, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Amelogenesis Imperfecta, Aliases & Descriptions:

Name: Amelogenesis Imperfecta 30 9 63 41 21 11 43 47
Congenital Enamel Hypoplasia 21
 
Aortic Valve Insufficiency 60
Ai 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Oral diseases


Characteristics (Orphanet epidemiological data):

47
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


External Ids:

Disease Ontology9 DOID:2187
ICD9CM27 520.5
MeSH33 D000567
Orphanet47 88661
SNOMED-CT55 78494001
MESH via Orphanet34 D000567
ICD10 via Orphanet26 K00.5
UMLS via Orphanet61 C0002452

Summaries for Amelogenesis Imperfecta

About this section


NIH Rare Diseases:41 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 taurodontism and dentinogenesis imperfecta. An important gene associated with Amelogenesis Imperfecta is AMELX (amelogenin, X-linked), and among its related pathways are Collagen biosynthesis and modifying enzymes and Degradation of the extracellular matrix. The compounds hydroxyapatite and batimastat have been mentioned in the context of this disorder. Affiliated tissues include kidney and skin, and related mouse phenotype craniofacial.

Disease Ontology:9 A dental enamel hypoplasia characterized by abnormal enamel formation.

Genetics Home Reference:21 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 teeth.

Wikipedia:63 Amelogenesis imperfecta (AI) presents with a rare abnormal formation of the enamel or external layer of... more...

Related Diseases for Amelogenesis Imperfecta

About this section

Diseases in the Amelogenesis Imperfecta family:

Amelogenesis Imperfecta, Type Ia Amelogenesis Imperfecta, Type Ih
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 159)
idRelated DiseaseScoreTop Affiliating Genes
1taurodontism31.4DSPP, DLX3
2dentinogenesis imperfecta30.9DSPP, MMP20, ENAM
3dental fluorosis30.6MMP20, AMELY, AMELX
4dentin dysplasia30.5ENAM, MSX2, MMP20, DSPP
5hypocalcified amelogenesis imperfecta10.8
6jalili syndrome10.8
7amelogenesis imperfecta, type 1e10.7
8amelogenesis imperfecta, type iia110.7
9amelogenesis imperfecta, type iv10.7
10amelogenesis imperfecta, type iia210.7
11nephrocalcinosis10.7
12gingivitis10.7
13amelogenesis imperfecta, type ib10.6
14amelogenesis imperfecta, type iia310.6
15amelogenesis imperfecta, type ig10.6
16amelogenesis imperfecta hypoplastic type, ig10.6
17verloes bourguignon syndrome10.6
18amelogenesis imperfecta, type ic10.6
19amelogenesis imperfecta, type iii10.6
20cone-rod dystrophy10.6
21amelogenesis imperfecta hypomaturation type10.6
22amyloidosis10.6
23amelogenesis imperfecta, type iia410.6
24amelogenesis imperfecta, type iia510.6
25amelogenesis imperfecta, type ia10.5
26kohlschutter-tonz syndrome10.5
27gamma heavy chain disease10.5
28amelogenesis imperfecta local hypoplastic10.5
29amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 210.5
30amelogenesis imperfecta and gingival hyperplasia syndrome10.5
31cerebritis10.5
32atherosclerosis10.5
33amelogenesis imperfecta, type ih10.5
34periodontitis10.5
35alzheimer disease10.4
36neuronitis10.4
37artery disease10.4
38dementia10.4
39amelogenesis imperfecta pigmented hypomaturation type10.4
40trichodysplasia - amelogenesis imperfecta10.4
41coronary artery disease10.4
42androgen insensitivity10.4
43adenocarcinoma10.4
44renal tubular acidosis10.3
45brachyolmia10.3
46epidermolysis bullosa10.3
47fibromatosis10.3
48adenocarcinoma in situ10.3
49familial renal amyloidosis due to apolipoprotein ai variant10.3
50cerebral amyloid angiopathy10.3

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



Diseases related to amelogenesis imperfecta

Symptoms for Amelogenesis Imperfecta

About this section

Drugs & Therapeutics for Amelogenesis Imperfecta

About this section

Drug clinical trials:

Search ClinicalTrials for Amelogenesis Imperfecta

Search NIH Clinical Center for Amelogenesis Imperfecta

Genetic Tests for Amelogenesis Imperfecta

About this section

Anatomical Context for Amelogenesis Imperfecta

About this section

MalaCards organs/tissues related to Amelogenesis Imperfecta:

31
Kidney, Skin

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

About this section

MGI Mouse Phenotypes related to Amelogenesis Imperfecta:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053827.2SLC24A4, ENAM, KLK4, MSX2, FAM20A, MMP20

Publications for Amelogenesis Imperfecta

About this section

Articles related to Amelogenesis Imperfecta:

(show top 50)    (show all 426)
idTitleAuthorsYear
1
Ultrastructural analysis of the teeth affected by amelogenesis imperfecta resulting from FAM83H mutations and review of the literature. (25487982)
2015
2
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. (25669657)
2015
3
Interdisciplinary Care for a Patient with Amelogenesis Imperfecta: A Clinical Report. (25522047)
2014
4
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. (23375655)
2013
5
Phenotype-genotype correlations in mouse models of amelogenesis imperfecta caused by Amelx and Enam mutations. (22759786)
2012
6
Multiple unerupted teeth with amelogenesis imperfecta in siblings. (22655284)
2012
7
Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6. (23251683)
2012
8
Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry. (21127961)
2011
9
Amelogenesis imperfecta due to a mutation of the enamelin gene: clinical case with genotype-phenotype correlations. (20298654)
2010
10
Interdisciplinary treatment of a patient with amelogenesis imperfecta. (21280548)
2010
11
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. (19200527)
2009
12
Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta. (19530186)
2009
13
Clinical success of deproteinization in hypocalcified amelogenesis imperfecta. (19169442)
2009
14
Amelogenesis imperfecta: Report of a case and review of literature. (21887005)
2009
15
Rehabilitation of a patient with amelogenesis imperfecta using all-ceramic crowns: a clinical report. (17692589)
2007
16
Amelogenesis imperfecta. (17408482)
2007
17
Acid-etching effects in hypomineralized amelogenesis imperfecta. A microscopic and microanalytical study. (16388292)
2006
18
Oral rehabilitation of a young adult with hypoplastic amelogenesis imperfecta: a clinical report. (16399268)
2006
19
Effect of deproteinization on composite bond strength in hypocalcified amelogenesis imperfecta. (16700741)
2006
20
ENAM mutations in autosomal-dominant amelogenesis imperfecta. (15723871)
2005
21
Genes and related proteins involved in amelogenesis imperfecta. (16304440)
2005
22
Amelogenesis imperfecta. (15119723)
2004
23
Relationship of phenotype and genotype in X-linked amelogenesis imperfecta. (12952177)
2003
24
Inheritance pattern and elemental composition of enamel affected by hypomaturation amelogenesis imperfecta. (12489199)
2002
25
Amelogenesis imperfecta with growth hormone deficiency in a 12 year-old boy. (12014527)
2002
26
Enamelysin (matrix metalloproteinase 20)-deficient mice display an amelogenesis imperfecta phenotype. (12393861)
2002
27
Amelogenesis imperfecta: a scanning electron microscopic and histopathologic study. (12175124)
2002
28
Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary. (12407086)
2002
29
A case of amelogenesis imperfecta of deciduous and all permanent teeth. (11484794)
2001
30
Mutational analysis of X-linked amelogenesis imperfecta in multiple families. (10669095)
2000
31
Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus. (11037750)
2000
32
The effects of acid-etching on enamel from different clinical variants of amelogenesis imperfecta: an SEM study. (9524971)
1998
33
Ultrastructural study of tooth enamel with amelogenesis imperfecta in AI-nephrocalcinosis syndrome. (7554924)
1995
34
Taurodontism of the mandibular first permanent molar distinguishes between the tricho-dento-osseous (TDO) syndrome and amelogenesis imperfecta. (8375104)
1993
35
Periodontal and prosthodontic treatment of amelogenesis imperfecta: a clinical report. (8366451)
1993
36
Trichodysplasia and amelogenesis imperfecta. (8419879)
1993
37
The mineral composition and enamel ultrastructure of hypocalcified amelogenesis imperfecta. (8325967)
1993
38
Scanning electron microscopic study of primary teeth in X-linked amelogenesis imperfecta. (1602411)
1992
39
X-linked (recessive) hypomaturation amelogenesis imperfecta: a prosthodontic, genetic, and histopathologic report. (1800740)
1991
40
Mapping of the gene for X-linked amelogenesis imperfecta by linkage analysis. (1967204)
1990
41
Asymmetrical tooth defects observed in hypoplastic primary teeth and amelogenesis imperfecta: case reports. (3475684)
1987
42
Hereditary amelogenesis imperfecta. An epidemiological, genetic and clinical study in a Swedish child population. (3460191)
1986
43
Hereditary amelogenesis imperfecta. I. Oral health in children. (3466378)
1986
44
Amelogenesis imperfecta--a method of rehabilitation. (6391971)
1984
45
The treatment of hypocalcified amelogenesis imperfecta in a young adolescent. (6596421)
1984
46
X-linked hypomaturation amelogenesis imperfecta: a case report. (6932309)
1980
47
The management of children and adolescents suffering from amelogenesis imperfecta and dentinogenesis imperfecta. (4280388)
1974
48
Electron-optic analyses of hypomineralized amelogenesis imperfecta in man. (4625727)
1972
49
Amelogenesis imperfecta: report of a case. (5280290)
1971
50
A mineralized cuticular structure with connective tissue characteristics on the crowns of human unerupted teeth in amelogenesis imperfecta. A light and electron microscopic study. (4226808)
1967

Variations for Amelogenesis Imperfecta

About this section

Clinvar genetic disease variations for Amelogenesis Imperfecta:

6 (show all 37)
id Gene Variation Type Significance SNP ID Assembly Location
1AMELXNG_012040.1: g.(7523_7526)_(12246_12249)deldeletionPathogenic
2NM_182680.1(AMELX): c.155delC (p.Pro52Leufs)deletionPathogenicrs387906487GRCh38Chr X, 11298246: 11298246
3NM_182680.1(AMELX): c.14_22delTTTTATTTG (p.Ile5_Ala8delinsThr)deletionPathogenicrs387906488GRCh37Chr X, 11312922: 11312930
4NM_182680.1(AMELX): c.473delC (p.Pro158Hisfs)deletionPathogenicrs387906489GRCh37Chr X, 11316954: 11316954
5NM_182680.1(AMELX): c.152C> T (p.Thr51Ile)single nucleotide variantPathogenicrs104894733GRCh37Chr X, 11316363: 11316363
6NM_182680.1(AMELX): c.571G> T (p.Glu191Ter)single nucleotide variantPathogenicrs104894734GRCh37Chr X, 11317052: 11317052
7NM_182680.1(AMELX): c.208C> A (p.Pro70Thr)single nucleotide variantPathogenicrs104894736GRCh37Chr X, 11316689: 11316689
8NM_182680.1(AMELX): c.541delC (p.Leu181Cysfs)deletionPathogenicrs387906490GRCh37Chr X, 11317022: 11317022
9NM_182680.1(AMELX): c.420delC (p.Tyr141Thrfs)deletionPathogenicrs387906491GRCh37Chr X, 11316901: 11316901
10NM_182680.1(AMELX): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs104894737GRCh37Chr X, 11312910: 11312910
11NM_182680.1(AMELX): c.11G> C (p.Trp4Ser)single nucleotide variantPathogenicrs104894738GRCh37Chr X, 11312919: 11312919
12MMP20NM_004771.3(MMP20): c.678T> A (p.His226Gln)single nucleotide variantPathogenicGRCh38Chr 11, 102609070: 102609070
13MMP20NM_004771.3(MMP20): c.102G> A (p.Trp34Ter)single nucleotide variantPathogenicGRCh38Chr 11, 102625218: 102625218
14WDR72NM_182758.3(WDR72): c.2348C> G (p.Ser783Ter)single nucleotide variantPathogenicrs267607178GRCh37Chr 15, 53908055: 53908055
15WDR72NM_182758.3(WDR72): c.2934G> A (p.Trp978Ter)single nucleotide variantPathogenicrs143816093GRCh37Chr 15, 53901728: 53901728
16WDR72WDR72, 1-BP DEL, 2857AdeletionPathogenic
17FAM83HNM_198488.3(FAM83H): c.1366C> T (p.Gln456Ter)single nucleotide variantPathogenicrs387907056GRCh37Chr 8, 144810265: 144810265
18C4orf26C4ORF26, ARG77TERsingle nucleotide variantPathogenic
19C4orf26C4ORF26, CYS43TERsingle nucleotide variantPathogenic
20C4orf26C4ORF26, IVS1AS, A-T, -2single nucleotide variantPathogenic
21C4orf26NM_178497.3(C4orf26): c.318G> Asingle nucleotide variantPathogenicrs146645381GRCh37Chr 4, 76489574: 76489574
22C4orf26C4ORF26, 6-BP DEL/16-BP INS, NT51indelPathogenic
23ENAMENAM, IVS7, G-A, +1single nucleotide variantPathogenic
24ENAMNM_031889.2(ENAM): c.157A> T (p.Lys53Ter)single nucleotide variantPathogenicrs121908109GRCh37Chr 4, 71497599: 71497599
25ENAMENAM, 2-BP INS, 13185AGinsertionPathogenic
26MMP20NM_004771.3(MMP20): c.954-2A> Tsingle nucleotide variantPathogenicrs140213840GRCh38Chr 11, 102594759: 102594759
27FAM83HNM_198488.3(FAM83H): c.973C> T (p.Arg325Ter)single nucleotide variantPathogenicrs137854435GRCh37Chr 8, 144810658: 144810658
28FAM83HNM_198488.3(FAM83H): c.1192C> T (p.Gln398Ter)single nucleotide variantPathogenicrs137854436GRCh37Chr 8, 144810439: 144810439
29FAM83HNM_198488.3(FAM83H): c.1243G> T (p.Glu415Ter)single nucleotide variantPathogenicrs137854437GRCh37Chr 8, 144810388: 144810388
30FAM83HNM_198488.3(FAM83H): c.891T> A (p.Tyr297Ter)single nucleotide variantPathogenicrs137854438GRCh37Chr 8, 144810740: 144810740
31FAM83HNM_198488.3(FAM83H): c.1380G> A (p.Trp460Ter)single nucleotide variantPathogenicrs137854439GRCh37Chr 8, 144810251: 144810251
32FAM83HNM_198488.3(FAM83H): c.2029C> T (p.Gln677Ter)single nucleotide variantPathogenicrs137854440GRCh37Chr 8, 144809602: 144809602
33FAM83HNM_198488.3(FAM83H): c.1408C> T (p.Gln470Ter)single nucleotide variantPathogenicrs137854441GRCh37Chr 8, 144810223: 144810223
34FAM83HNM_198488.3(FAM83H): c.860C> A (p.Ser287Ter)single nucleotide variantPathogenicrs137854442GRCh37Chr 8, 144810771: 144810771
35FAM83HFAM83H, 2-BP DEL, 923TCdeletionPathogenic
36FAM83HNM_198488.3(FAM83H): c.1379G> A (p.Trp460Ter)single nucleotide variantPathogenicrs137854444GRCh37Chr 8, 144810252: 144810252
37DLX3NM_005220.2(DLX3): c.561_562delCT (p.Tyr188Glnfs)deletionPathogenicrs387906406GRCh37Chr 17, 48069183: 48069184

Expression for genes affiliated with Amelogenesis Imperfecta

About this section
Search GEO for disease gene expression data for Amelogenesis Imperfecta.

Pathways for genes affiliated with Amelogenesis Imperfecta

About this section

Compounds for genes affiliated with Amelogenesis Imperfecta

About this section

Compounds related to Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1hydroxyapatite439.8DSPP, ENAM
2batimastat43 59 1211.6COL17A1, MMP20
3fluoride439.5MMP20, DSPP
4calcium43 49 24 1210.6SLC24A4, ENAM, COL17A1, MSX2, MMP20, DSPP

GO Terms for genes affiliated with Amelogenesis Imperfecta

About this section

Cellular components related to Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:00055788.7AMELX, AMELY, DSPP, MMP20, ENAM
2extracellular regionGO:00055768.6DSPP, MMP20, COL17A1, KLK4, C4orf26

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:00305749.7COL17A1, MMP20
2odontogenesis of dentin-containing toothGO:00424759.7AMELX, DLX3
3response to stimulusGO:00508969.5SLC24A4, CNNM4
4osteoblast differentiationGO:00016499.3AMELX, MSX2
5extracellular matrix organizationGO:00301989.3DSPP, COL17A1, MMP20
6enamel mineralizationGO:00701669.2MSX2, AMELX, FAM20A
7amelogenesisGO:00971869.1MMP20, SLC24A4, ENAM, KLK4
8biomineral tissue developmentGO:00312148.7AMELX, CNNM4, ENAM, DSPP, AMELY, FAM83H

Molecular functions related to Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of tooth enamelGO:00303459.9AMELY, AMELX

Products for genes affiliated with Amelogenesis Imperfecta

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Amelogenesis Imperfecta

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet