AI1E
MCID: AML061
MIFTS: 33

Amelogenesis Imperfecta, Type Ie (AI1E)

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

Aliases & Classifications for Amelogenesis Imperfecta, Type Ie

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Ie:

Name: Amelogenesis Imperfecta, Type Ie 58 41
Aih1 58 12 54 76
Amelogenesis Imperfecta, Type 1e 58 30 6
Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth 58 74
Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 1 58 74
Amelogenesis Imperfecta Hypoplastic/hypomaturation X-Linked 1 54 76
Amelogenesis Imperfecta, Hypoplastic/hypomaturation Type 1e 76 13
Amelogenesis Imperfecta Type 1e 12 15
Amelogenesis Imperfecta Type Ie 12 76
Enamel Hypoplasia X-Linked 54 76
Ai1e 58 76
Amelogenesis Imperfecta Hypomaturation Type with Snow-Capped Teeth 76
Amelogenesis Imperfecta Hypomaturationtype with Snow-Capped Teeth 12
Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2 74
X-Linked Amelogenesis Imperfecta Hypoplastic/hypomaturation 1 12
Amelogenesis Imperfecta, X-Linked 1; Aih1 58
Amelogenesis Imperfecta, X-Linked 1 58
X-Linked Amelogenesis Imperfecta 1 12
Amelogenesis Imperfecta X-Linked 1 54
X-Linked Amelogenesis Imperfecta 76
Enamel Hypoplasia, X-Linked 58
X-Linked Enamel Hypoplasia 12
Amelogenesis Imperfecta 1e 76
Xai 76

Characteristics:

OMIM:

58
Miscellaneous:
phenotypic variability
carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome

Inheritance:
x-linked dominant


HPO:

33
amelogenesis imperfecta, type ie:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110058
OMIM 58 301200
MeSH 45 D000567
ICD10 34 K00.5

Summaries for Amelogenesis Imperfecta, Type Ie

OMIM : 58 Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms (Witkop, 1988). (301200)

MalaCards based summary : Amelogenesis Imperfecta, Type Ie, also known as aih1, is related to amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 and amelogenesis imperfecta. An important gene associated with Amelogenesis Imperfecta, Type Ie is AMELX (Amelogenin X-Linked). Related phenotypes are abnormality of metabolism/homeostasis and microdontia

Disease Ontology : 12 An amelogenesis imperfecta that has material basis in mutation in the gene encoding amelogenin (AMELX).

UniProtKB/Swiss-Prot : 76 Amelogenesis imperfecta 1E: A X-linked defect of dental enamel formation. Teeth have only a thin layer of enamel with normal hardness. The thinness of the enamel makes the teeth appear small.

Related Diseases for Amelogenesis Imperfecta, Type Ie

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



Diseases related to Amelogenesis Imperfecta, Type Ie

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Ie

Human phenotypes related to Amelogenesis Imperfecta, Type Ie:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 33 HP:0001939
2 microdontia 33 HP:0000691
3 amelogenesis imperfecta 33 HP:0000705
4 hypoplasia of dental enamel 33 HP:0006297
5 anterior open bite 33 HP:0200095

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Teeth:
amelogenesis imperfecta
thin enamel
pitted enamel
hypomineralized enamel
soft enamel
more

Clinical features from OMIM:

301200

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Ie

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta, Type Ie

Genetic Tests for Amelogenesis Imperfecta, Type Ie

Genetic tests related to Amelogenesis Imperfecta, Type Ie:

# Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Type 1e 30 AMELX

Anatomical Context for Amelogenesis Imperfecta, Type Ie

Publications for Amelogenesis Imperfecta, Type Ie

Articles related to Amelogenesis Imperfecta, Type Ie:

(show all 30)
# Title Authors Year
1
A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta. ( 20067920 )
2010
2
A novel missense mutation (p.P52R) in amelogenin gene causing X-linked amelogenesis imperfecta. ( 17189466 )
2007
3
Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta. ( 15111628 )
2004
4
X-linked amelogenesis imperfecta may result from decreased formation of tyrosine rich amelogenin peptide (TRAP). ( 12648554 )
2003
5
Unusual manifestations in X-linked amelogenesis imperfecta. ( 12924992 )
2003
6
Relationship of phenotype and genotype in X-linked amelogenesis imperfecta. ( 12952177 )
2003
7
A new frameshift mutation encoding a truncated amelogenin leads to X-linked amelogenesis imperfecta. ( 11839357 )
2002
8
Altered amelogenin self-assembly based on mutations observed in human X-linked amelogenesis imperfecta (AIH1). ( 11877393 )
2002
9
A nomenclature for X-linked amelogenesis imperfecta. ( 11922868 )
2002
10
Reduced hydrolysis of amelogenin may result in X-linked amelogenesis imperfecta. ( 11223334 )
2001
11
Mutational analysis of X-linked amelogenesis imperfecta in multiple families. ( 10669095 )
2000
12
Detection of a novel mutation in X-linked amelogenesis imperfecta. ( 11201048 )
2000
13
DNA diagnosis of X-linked amelogenesis imperfecta (AIH1). ( 9083938 )
1997
14
An amelogenin gene defect associated with human X-linked amelogenesis imperfecta. ( 9188994 )
1997
15
Understanding enamel formation from mutations causing X-linked amelogenesis imperfecta. ( 7554922 )
1995
16
Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1). ( 7599636 )
1995
17
Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta. ( 7782077 )
1995
18
SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta (AIH1). ( 8081371 )
1994
19
Clinical features of a family with X-linked amelogenesis imperfecta mapping to a new locus (AIH3) on the long arm of the X chromosome. ( 8361730 )
1993
20
Enamel ultrastructure and protein content in X-linked amelogenesis imperfecta. ( 8361731 )
1993
21
Molecular basis and consequences of a deletion in the amelogenin gene, analyzed by capture PCR. ( 8406474 )
1993
22
Genetic heterogeneity in X-linked amelogenesis imperfecta. ( 1358807 )
1992
23
Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1). ( 1483698 )
1992
24
X-linked amelogenesis imperfecta. Presentation of two kindreds and a review of the literature. ( 1574307 )
1992
25
Scanning electron microscopic study of primary teeth in X-linked amelogenesis imperfecta. ( 1602411 )
1992
26
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). ( 1916828 )
1991
27
Mapping of the gene for X-linked amelogenesis imperfecta by linkage analysis. ( 1967204 )
1990
28
Amelogenesis imperfecta: a genetic study. ( 3169793 )
1988
29
Electron optic microanalysis of two gene products in enamel of females heterozygous for X-linked hypomaturation amelogenesis imperfecta. ( 4623931 )
1972
30
Partial expression of sex-linked recessive amelogenesis imperfecta in females compatible with the Lyon hypothesis. ( 5225441 )
1967

Variations for Amelogenesis Imperfecta, Type Ie

UniProtKB/Swiss-Prot genetic disease variations for Amelogenesis Imperfecta, Type Ie:

76
# Symbol AA change Variation ID SNP ID
1 AMELX p.Trp4Ser VAR_037581 rs104894738
2 AMELX p.Thr37Ile VAR_037582 rs104894733
3 AMELX p.Pro56Thr VAR_037583 rs104894736

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Ie:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 AMELX NM_001287242.1(ARHGAP6): c.49-45951_49-41228del deletion Pathogenic GRCh37 Chromosome X, 11314055: 11318781
2 AMELX NM_001287242.1(ARHGAP6): c.49-45951_49-41228del deletion Pathogenic GRCh38 Chromosome X, 11295935: 11300661
3 AMELX NM_182680.1(AMELX): c.155delC (p.Pro52Leufs) deletion Pathogenic rs387906487 GRCh37 Chromosome X, 11316366: 11316366
4 AMELX NM_182680.1(AMELX): c.155delC (p.Pro52Leufs) deletion Pathogenic rs387906487 GRCh38 Chromosome X, 11298246: 11298246
5 AMELX NM_182680.1(AMELX): c.14_22delTTTTATTTG (p.Ile5_Ala8delinsThr) deletion Pathogenic rs387906488 GRCh37 Chromosome X, 11312922: 11312930
6 AMELX NM_182680.1(AMELX): c.14_22delTTTTATTTG (p.Ile5_Ala8delinsThr) deletion Pathogenic rs387906488 GRCh38 Chromosome X, 11294802: 11294810
7 AMELX NM_182680.1(AMELX): c.473delC (p.Pro158Hisfs) deletion Pathogenic rs387906489 GRCh37 Chromosome X, 11316954: 11316954
8 AMELX NM_182680.1(AMELX): c.473delC (p.Pro158Hisfs) deletion Pathogenic rs387906489 GRCh38 Chromosome X, 11298834: 11298834
9 AMELX NM_182680.1(AMELX): c.152C> T (p.Thr51Ile) single nucleotide variant Pathogenic rs104894733 GRCh37 Chromosome X, 11316363: 11316363
10 AMELX NM_182680.1(AMELX): c.152C> T (p.Thr51Ile) single nucleotide variant Pathogenic rs104894733 GRCh38 Chromosome X, 11298243: 11298243
11 AMELX NM_182680.1(AMELX): c.571G> T (p.Glu191Ter) single nucleotide variant Pathogenic rs104894734 GRCh37 Chromosome X, 11317052: 11317052
12 AMELX NM_182680.1(AMELX): c.571G> T (p.Glu191Ter) single nucleotide variant Pathogenic rs104894734 GRCh38 Chromosome X, 11298932: 11298932
13 AMELX NM_182680.1(AMELX): c.208C> A (p.Pro70Thr) single nucleotide variant Pathogenic rs104894736 GRCh37 Chromosome X, 11316689: 11316689
14 AMELX NM_182680.1(AMELX): c.208C> A (p.Pro70Thr) single nucleotide variant Pathogenic rs104894736 GRCh38 Chromosome X, 11298569: 11298569
15 AMELX NM_182680.1(AMELX): c.541delC (p.Leu181Cysfs) deletion Pathogenic rs387906490 GRCh37 Chromosome X, 11317022: 11317022
16 AMELX NM_182680.1(AMELX): c.541delC (p.Leu181Cysfs) deletion Pathogenic rs387906490 GRCh38 Chromosome X, 11298902: 11298902
17 AMELX NM_182680.1(AMELX): c.420delC (p.Tyr141Thrfs) deletion Pathogenic rs387906491 GRCh37 Chromosome X, 11316901: 11316901
18 AMELX NM_182680.1(AMELX): c.420delC (p.Tyr141Thrfs) deletion Pathogenic rs387906491 GRCh38 Chromosome X, 11298781: 11298781
19 AMELX NM_182680.1(AMELX): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs104894737 GRCh37 Chromosome X, 11312910: 11312910
20 AMELX NM_182680.1(AMELX): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs104894737 GRCh38 Chromosome X, 11294790: 11294790
21 AMELX NM_182680.1(AMELX): c.11G> C (p.Trp4Ser) single nucleotide variant Pathogenic rs104894738 GRCh37 Chromosome X, 11312919: 11312919
22 AMELX NM_182680.1(AMELX): c.11G> C (p.Trp4Ser) single nucleotide variant Pathogenic rs104894738 GRCh38 Chromosome X, 11294799: 11294799

Expression for Amelogenesis Imperfecta, Type Ie

Search GEO for disease gene expression data for Amelogenesis Imperfecta, Type Ie.

Pathways for Amelogenesis Imperfecta, Type Ie

GO Terms for Amelogenesis Imperfecta, Type Ie

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

# Name GO ID Score Top Affiliating Genes
1 biomineral tissue development GO:0031214 8.62 AMELX TUFT1

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of tooth enamel GO:0030345 8.62 AMELX TUFT1

Sources for Amelogenesis Imperfecta, Type Ie

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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