AI1E
MCID: AML061
MIFTS: 37

Amelogenesis Imperfecta, Type Ie (AI1E)

Categories: Fetal diseases, 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 57 39
Aih1 57 12 20 72
Amelogenesis Imperfecta, Type 1e 57 29 6
Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth 57 70
Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 1 57 70
Amelogenesis Imperfecta Hypoplastic/hypomaturation X-Linked 1 20 72
Amelogenesis Imperfecta, Hypoplastic/hypomaturation Type 1e 72 13
Amelogenesis Imperfecta Type 1e 12 15
Amelogenesis Imperfecta Type Ie 12 72
Enamel Hypoplasia, X-Linked 57 6
Enamel Hypoplasia X-Linked 20 72
Ai1e 57 72
Amelogenesis Imperfecta Hypomaturation Type with Snow-Capped Teeth 72
Amelogenesis Imperfecta Hypomaturationtype with Snow-Capped Teeth 12
Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2 70
X-Linked Amelogenesis Imperfecta Hypoplastic/hypomaturation 1 12
Amelogenesis Imperfecta, X-Linked 1; Aih1 57
Amelogenesis Imperfecta, X-Linked 1 57
X-Linked Amelogenesis Imperfecta 1 12
Amelogenesis Imperfecta X-Linked 1 20
X-Linked Amelogenesis Imperfecta 72
X-Linked Enamel Hypoplasia 12
Amelogenesis Imperfecta 1e 72
Xai 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
phenotypic variability
carrier females exhibit less severe phenotype attributed to random inactivation of the x chromosome

Inheritance:
x-linked dominant


HPO:

31
amelogenesis imperfecta, type ie:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110058
OMIM® 57 301200
OMIM Phenotypic Series 57 PS104500
MeSH 44 D000567
ICD10 32 K00.5
UMLS 70 C1845051 C1845052 C1845053

Summaries for Amelogenesis Imperfecta, Type Ie

OMIM® : 57 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) (Updated 20-May-2021)

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). Affiliated tissues include bone, skin and liver, and related phenotypes are microdontia and abnormality of metabolism/homeostasis

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

UniProtKB/Swiss-Prot : 72 Amelogenesis imperfecta 1E: An 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

Diseases in the Amelogenesis Imperfecta family:

Amelogenesis Imperfecta, Type Ib Amelogenesis Imperfecta, Type Iv
Amelogenesis Imperfecta, Type Ia Amelogenesis Imperfecta, Type Iiia
Amelogenesis Imperfecta, Type Ic Amelogenesis Imperfecta, Type Ig
Amelogenesis Imperfecta, Type Ie Amelogenesis Imperfecta, Type Ih
Amelogenesis Imperfecta, Type if Amelogenesis Imperfecta, Type Ij
Amelogenesis Imperfecta, Type Iiib Amelogenesis Imperfecta, Type Iiic
Amelogenesis Imperfecta Type 2a1

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 31.4 TUFT1 SEPSECS DNAL1 AMELX AMBN
2 amelogenesis imperfecta 29.3 TUFT1 SEPSECS DNAL1 CYP2D6 ARHGAP6 AMELX
3 triiodothyronine receptor auxiliary protein 10.3
4 type 1 diabetes mellitus 12 10.2 TNFRSF25 TNFRSF10A
5 type 1 diabetes mellitus 5 10.2 TNFRSF25 TNFRSF10A
6 peliosis hepatis 10.2 NUP210 DNAL1
7 taurodontism 10.2
8 rapidly involuting congenital hemangioma 10.2
9 amelogenesis imperfecta hypomaturation type 10.2
10 hypoplastic amelogenesis imperfecta 10.2
11 hirata disease 10.1 TNFRSF10A HLA-DRB1
12 focal epithelial hyperplasia 10.1 TNFRSF10A HLA-DRB1
13 autoimmune cholangitis 10.1 SEPSECS NUP210
14 immunodeficiency 31c 10.1 TNFRSF25 TNFRSF10A
15 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 10.1 TUFT1 AMELX
16 central nervous system vasculitis 10.0 TNFRSF10A HLA-DRB1
17 adrenal cortical hypofunction 10.0 TNFRSF25 TNFRSF10A
18 pemphigoid gestationis 10.0 TNFRSF25 TNFRSF10A HLA-DRB1
19 pulp degeneration 10.0 AMELX AMBN
20 autoimmune disease of endocrine system 10.0 TNFRSF25 TNFRSF10A HLA-DRB1
21 hypercementosis 10.0 AMELX AMBN
22 type 1 diabetes mellitus 2 10.0 TNFRSF25 TNFRSF10A
23 hermansky-pudlak syndrome 6 10.0 AMELX AMBN
24 tooth resorption 9.9 AMELX AMBN
25 trichodentoosseous syndrome 9.9 AMELX AMBN
26 cholangitis, primary sclerosing 9.9 TNFRSF25 SEPSECS NUP210 DNAL1
27 body mass index quantitative trait locus 11 9.9
28 linear skin defects with multiple congenital anomalies 1 9.9
29 body mass index quantitative trait locus 9 9.9
30 body mass index quantitative trait locus 8 9.9
31 body mass index quantitative trait locus 4 9.9
32 body mass index quantitative trait locus 10 9.9
33 body mass index quantitative trait locus 7 9.9
34 body mass index quantitative trait locus 12 9.9
35 body mass index quantitative trait locus 14 9.9
36 body mass index quantitative trait locus 18 9.9
37 body mass index quantitative trait locus 19 9.9
38 microphthalmia 9.9
39 pulmonary embolism 9.9
40 bone benign neoplasm 9.9 AMELX AMBN
41 rigid spine muscular dystrophy 1 9.9 SEPSECS NME5 ACTA1
42 autoimmune disease of gastrointestinal tract 9.9 TNFRSF25 TNFRSF10A SEPSECS NUP210
43 dental fluorosis 9.8 AMELX AMBN
44 autoimmune hepatitis 9.8 SEPSECS HLA-DRB1 FTCD CYP2D6 ASGR1
45 dentine erosion 9.7 TUFT1 AMELX AMBN
46 enamel caries 9.7 TUFT1 AMELX AMBN
47 tooth erosion 9.7 TUFT1 AMELX AMBN
48 teeth hard tissue disease 9.7 TUFT1 AMELX AMBN
49 dentin dysplasia 9.6 AMELX AMBN
50 dental caries 9.6 TUFT1 AMELX AMBN

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:

31
# Description HPO Frequency HPO Source Accession
1 microdontia 31 HP:0000691
2 abnormality of metabolism/homeostasis 31 HP:0001939
3 amelogenesis imperfecta 31 HP:0000705
4 hypoplasia of dental enamel 31 HP:0006297
5 anterior open-bite malocclusion 31 HP:0009102

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Teeth:
amelogenesis imperfecta
anterior open bite
thin enamel
pitted enamel
hypomineralized enamel
more

Clinical features from OMIM®:

301200 (Updated 20-May-2021)

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 29 AMELX

Anatomical Context for Amelogenesis Imperfecta, Type Ie

MalaCards organs/tissues related to Amelogenesis Imperfecta, Type Ie:

40
Bone, Skin, Liver

Publications for Amelogenesis Imperfecta, Type Ie

Articles related to Amelogenesis Imperfecta, Type Ie:

(show all 38)
# Title Authors PMID Year
1
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). 61 57 6
1916828 1991
2
Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta. 6 57
15111628 2004
3
Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta. 57 6
7782077 1995
4
Mapping of the gene for X-linked amelogenesis imperfecta by linkage analysis. 6 57
1967204 1990
5
Amelogenesis imperfecta: a genetic study. 57 6
3169793 1988
6
Electron optic microanalysis of two gene products in enamel of females heterozygous for X-linked hypomaturation amelogenesis imperfecta. 6 57
4623931 1972
7
Partial expression of sex-linked recessive amelogenesis imperfecta in females compatible with the Lyon hypothesis. 6 57
5225441 1967
8
Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1). 6 61
7599636 1995
9
Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1). 6 61
1483698 1992
10
Genetic heterogeneity in X-linked amelogenesis imperfecta. 57 61
1358807 1992
11
Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6. 57
23251683 2012
12
A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta. 57
20067920 2010
13
A nomenclature for X-linked amelogenesis imperfecta. 6
11922868 2002
14
A new frameshift mutation encoding a truncated amelogenin leads to X-linked amelogenesis imperfecta. 6
11839357 2002
15
Detection of a novel mutation in X-linked amelogenesis imperfecta. 6
11201048 2000
16
Mutational analysis of X-linked amelogenesis imperfecta in multiple families. 6
10669095 2000
17
An amelogenin gene defect associated with human X-linked amelogenesis imperfecta. 6
9188994 1997
18
Molecular basis and consequences of a deletion in the amelogenin gene, analyzed by capture PCR. 6
8406474 1993
19
Amelogenesis imperfecta--clinical manifestations in 51 families in a northern Swedish county. 57
3264621 1988
20
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. 57
3150442 1988
21
A clinical, genetic, and ultrastructural study of snow-capped teeth: amelogenesis imperfecta, hypomaturation type. 57
6947186 1981
22
Hereditary enamel hypoplasia. 57
5155316 1971
23
HEREDITARY ENAMEL DEFECTS. 57
14114178 1964
24
Hereditary defects in enamel and dentin. 57
13469154 1957
25
[Hereditary structural abnormalities of human teeth]. 57
13469153 1957
26
[Hypoplasia of dental enamel with incomplete dominant sex linked heredity]. 57
13015997 1952
27
Polyamines and Their Biosynthesis/Catabolism Genes Are Differentially Modulated in Response to Heat Versus Cold Stress in Tomato Leaves (Solanum lycopersicum L.). 61
32707844 2020
28
Advantages and Limitations of SNP Array in the Molecular Characterization of Pediatric T-Cell Acute Lymphoblastic Leukemia. 61
32766158 2020
29
Human leucocyte antigens and pediatric autoimmune liver disease: diagnosis and prognosis. 61
26567543 2016
30
Characteristics and outcome of autoimmune liver disease in Asian children. 61
25788179 2015
31
Involvement of (IgG and IgM)-secreting B lymphocytes in severity of autoimmune hepatitis type 1. 61
23296906 2013
32
Childhood autoimmune liver disease: indications and outcome of liver transplantation. 61
20118802 2010
33
Validation of amelogenesis imperfecta inferred from amelogenin evolution. 61
17384026 2007
34
Heterogeneous nuclear ribonucleoprotein A2/B1 identified as an autoantigen in autoimmune hepatitis by proteome analysis. 61
15188401 2004
35
Altered amelogenin self-assembly based on mutations observed in human X-linked amelogenesis imperfecta (AIH1). 61
11877393 2002
36
DNA diagnosis of X-linked amelogenesis imperfecta (AIH1). 61
9083938 1997
37
Molecular biology of hereditary enamel defects. 61
9189626 1997
38
SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta (AIH1). 61
8081371 1994

Variations for Amelogenesis Imperfecta, Type Ie

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Ie:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARHGAP6 , AMELX NM_001142.2(AMELX):c.113del (p.Pro38fs) Deletion Pathogenic 11137 rs387906487 GRCh37: X:11316363-11316363
GRCh38: X:11298243-11298243
2 ARHGAP6 , AMELX NM_001142.2(AMELX):c.14_22del (p.Ile5_Ala8delinsThr) Deletion Pathogenic 11138 rs387906488 GRCh37: X:11312922-11312930
GRCh38: X:11294802-11294810
3 ARHGAP6 , AMELX NM_001142.2(AMELX):c.431del (p.Pro144fs) Deletion Pathogenic 11139 rs387906489 GRCh37: X:11316953-11316953
GRCh38: X:11298833-11298833
4 ARHGAP6 , AMELX NM_001142.2(AMELX):c.110C>T (p.Thr37Ile) SNV Pathogenic 11140 rs104894733 GRCh37: X:11316363-11316363
GRCh38: X:11298243-11298243
5 ARHGAP6 , AMELX NM_001142.2(AMELX):c.529G>T (p.Glu177Ter) SNV Pathogenic 11141 rs104894734 GRCh37: X:11317052-11317052
GRCh38: X:11298932-11298932
6 ARHGAP6 , AMELX NM_001142.2(AMELX):c.166C>A (p.Pro56Thr) SNV Pathogenic 11142 rs104894736 GRCh37: X:11316689-11316689
GRCh38: X:11298569-11298569
7 ARHGAP6 , AMELX NM_001142.2(AMELX):c.499del (p.Leu167fs) Deletion Pathogenic 11143 rs387906490 GRCh37: X:11317019-11317019
GRCh38: X:11298899-11298899
8 ARHGAP6 , AMELX NM_001142.2(AMELX):c.378del (p.Tyr127fs) Deletion Pathogenic 11144 rs387906491 GRCh37: X:11316899-11316899
GRCh38: X:11298779-11298779
9 ARHGAP6 , AMELX NM_001142.2(AMELX):c.2T>C (p.Met1Thr) SNV Pathogenic 11145 rs104894737 GRCh37: X:11312910-11312910
GRCh38: X:11294790-11294790
10 ARHGAP6 , AMELX NM_001142.2(AMELX):c.11G>C (p.Trp4Ser) SNV Pathogenic 11146 rs104894738 GRCh37: X:11312919-11312919
GRCh38: X:11294799-11294799
11 ARHGAP6 , AMELX NM_001287242.1(ARHGAP6):c.49-45951_49-41228del Deletion Pathogenic 11136 GRCh37: X:11314055-11318781
GRCh38: X:11295935-11300661
12 ARHGAP6 , AMELX NM_001142.2(AMELX):c.129G>C (p.Gln43His) SNV not provided 96976 rs431825176 GRCh37: X:11316382-11316382
GRCh38: X:11298262-11298262
13 ARHGAP6 , AMELX NM_001142.2(AMELX):c.131G>A (p.Ser44Asn) SNV not provided 96977 rs431825177 GRCh37: X:11316384-11316384
GRCh38: X:11298264-11298264
14 ARHGAP6 , AMELX NM_001142.2(AMELX):c.132C>A (p.Ser44Arg) SNV not provided 96978 rs431825178 GRCh37: X:11316385-11316385
GRCh38: X:11298265-11298265
15 FAM83H NM_198488.4(FAM83H):c.2250C>T (p.Gly750=) SNV not provided 96979 rs431825179 GRCh37: 8:144809381-144809381
GRCh38: 8:143727211-143727211
16 FAM83H NM_198488.4(FAM83H):c.2765G>T (p.Arg922Leu) SNV not provided 96980 rs431825180 GRCh37: 8:144808866-144808866
GRCh38: 8:143726696-143726696
17 FAM83H NM_198488.4(FAM83H):c.2766C>T (p.Arg922=) SNV not provided 96981 rs431825181 GRCh37: 8:144808865-144808865
GRCh38: 8:143726695-143726695

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

72
# 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

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 8.8 TUFT1 AMELX AMBN

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 8.8 TUFT1 AMELX AMBN

Sources for Amelogenesis Imperfecta, Type Ie

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....