MCID: AML016
MIFTS: 31

Amelogenesis Imperfecta, Type 1e

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

Aliases & Classifications for Amelogenesis Imperfecta, Type 1e

MalaCards integrated aliases for Amelogenesis Imperfecta, Type 1e:

Name: Amelogenesis Imperfecta, Type 1e 54 24 29
Aih1 12 50 24 71
Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 1 24 69
Amelogenesis Imperfecta Hypoplastic/hypomaturation X-Linked 1 50 71
Amelogenesis Imperfecta, Hypoplastic/hypomaturation Type 1e 71 13
Amelogenesis Imperfecta Type 1e 12 14
Amelogenesis Imperfecta Type Ie 12 71
Enamel Hypoplasia X-Linked 50 71
Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth 69
Amelogenesis Imperfecta Hypomaturation Type with Snow-Capped Teeth 71
Amelogenesis Imperfecta Hypomaturationtype with Snow-Capped Teeth 12
Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2 69
X-Linked Amelogenesis Imperfecta Hypoplastic/hypomaturation 1 12
X-Linked Amelogenesis Imperfecta 1 12
Amelogenesis Imperfecta X-Linked 1 50
X-Linked Amelogenesis Imperfecta 71
Enamel Hypoplasia, X-Linked 24
X-Linked Enamel Hypoplasia 12
Amelogenesis Imperfecta 1e 71
Ai1e 71
Xai 71

Characteristics:

OMIM:

54
Inheritance:
x-linked dominant

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


HPO:

32
amelogenesis imperfecta, type 1e:
Inheritance x-linked dominant inheritance
Onset and clinical course phenotypic variability


Classifications:



External Ids:

OMIM 54 301200
Disease Ontology 12 DOID:0110058
ICD10 33 K00.5
MeSH 42 D000567

Summaries for Amelogenesis Imperfecta, Type 1e

OMIM : 54
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 1e, also known as aih1, is related to x-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 and amelogenesis imperfecta, and has symptoms including microdontia, amelogenesis imperfecta and anterior open bite. An important gene associated with Amelogenesis Imperfecta, Type 1e is AMELX (Amelogenin, X-Linked).

UniProtKB/Swiss-Prot : 71 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.

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

Related Diseases for Amelogenesis Imperfecta, Type 1e

Diseases in the Amelogenesis Imperfecta family:

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

Diseases related to Amelogenesis Imperfecta, Type 1e via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
id Related Disease Score Top Affiliating Genes
1 x-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 11.2
2 amelogenesis imperfecta 10.2
3 ocular cancer 10.2 AMELX AMELY
4 pineal region yolk sac tumor 10.2 AMELX AMELY
5 thymus mucoepidermoid carcinoma 10.2 AMELX AMELY
6 retinitis pigmentosa 59 10.1 AMELX AMELY
7 accommodative spasm 10.1 AMELX AMELY
8 neuroschistosomiasis 10.1 AMELX AMELY
9 bronchus cancer 10.0 AMELX AMELY
10 pediatric infratentorial ependymoblastoma 10.0 AMELX AMELY
11 bacterial gastritis 10.0 AMELX AMELY
12 female breast upper-inner quadrant cancer 9.9 AMELX AMELY
13 microphthalmia 9.8
14 arrhythmogenic right ventricular dysplasia 3 9.7 AMELX AMELY TUFT1
15 ovarian malignant mesothelioma 9.7 AMELX AMELY TUFT1
16 vaginitis 9.7 AMELX TUFT1
17 bartter disease 9.4 CYP2D6 FTCD SEPSECS
18 amelogenesis imperfecta, type ic 8.8 ASGR1 CYP2D6 FTCD SEPSECS
19 specific developmental disorder 8.8 ASGR1 CYP2D6 FTCD SEPSECS
20 mental retardation, x-linked 104 7.4 AMELX AMELY ASGR1 CYP2D6 FTCD SEPSECS

Graphical network of the top 20 diseases related to Amelogenesis Imperfecta, Type 1e:



Diseases related to Amelogenesis Imperfecta, Type 1e

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type 1e

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Teeth:
amelogenesis imperfecta
hypomineralized enamel
soft enamel
hard enamel
thin enamel
more

Clinical features from OMIM:

301200

Human phenotypes related to Amelogenesis Imperfecta, Type 1e:

32
id Description HPO Frequency HPO Source Accession
1 microdontia 32 HP:0000691
2 amelogenesis imperfecta 32 HP:0000705
3 anterior open bite 32 HP:0200095
4 abnormality of metabolism/homeostasis 32 HP:0001939
5 hypoplasia of dental enamel 32 HP:0006297

Drugs & Therapeutics for Amelogenesis Imperfecta, Type 1e

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta, Type 1e

Genetic Tests for Amelogenesis Imperfecta, Type 1e

Genetic tests related to Amelogenesis Imperfecta, Type 1e:

id Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Type 1e 29 24 AMELX

Anatomical Context for Amelogenesis Imperfecta, Type 1e

Publications for Amelogenesis Imperfecta, Type 1e

Variations for Amelogenesis Imperfecta, Type 1e

UniProtKB/Swiss-Prot genetic disease variations for Amelogenesis Imperfecta, Type 1e:

71
id 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 1e:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 AMELX NM_182680.1(AMELX): c.155delC (p.Pro52Leufs) deletion Pathogenic rs387906487 GRCh38 Chromosome X, 11298246: 11298246
2 AMELX NM_001287242.1(ARHGAP6): c.49-45951_49-41228del deletion Pathogenic GRCh37 Chromosome X, 11314055: 11318781
3 AMELX NM_182680.1(AMELX): c.14_22delTTTTATTTG (p.Ile5_Ala8delinsThr) deletion Pathogenic rs387906488 GRCh37 Chromosome X, 11312922: 11312930
4 AMELX NM_182680.1(AMELX): c.473delC (p.Pro158Hisfs) deletion Pathogenic rs387906489 GRCh37 Chromosome X, 11316954: 11316954
5 AMELX NM_182680.1(AMELX): c.152C> T (p.Thr51Ile) single nucleotide variant Pathogenic rs104894733 GRCh37 Chromosome X, 11316363: 11316363
6 AMELX NM_182680.1(AMELX): c.571G> T (p.Glu191Ter) single nucleotide variant Pathogenic rs104894734 GRCh37 Chromosome X, 11317052: 11317052
7 AMELX NM_182680.1(AMELX): c.208C> A (p.Pro70Thr) single nucleotide variant Pathogenic rs104894736 GRCh37 Chromosome X, 11316689: 11316689
8 AMELX NM_182680.1(AMELX): c.541delC (p.Leu181Cysfs) deletion Pathogenic rs387906490 GRCh37 Chromosome X, 11317022: 11317022
9 AMELX NM_182680.1(AMELX): c.420delC (p.Tyr141Thrfs) deletion Pathogenic rs387906491 GRCh37 Chromosome X, 11316901: 11316901
10 AMELX NM_182680.1(AMELX): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs104894737 GRCh37 Chromosome X, 11312910: 11312910
11 AMELX NM_182680.1(AMELX): c.11G> C (p.Trp4Ser) single nucleotide variant Pathogenic rs104894738 GRCh37 Chromosome X, 11312919: 11312919

Expression for Amelogenesis Imperfecta, Type 1e

Search GEO for disease gene expression data for Amelogenesis Imperfecta, Type 1e.

Pathways for Amelogenesis Imperfecta, Type 1e

GO Terms for Amelogenesis Imperfecta, Type 1e

Biological processes related to Amelogenesis Imperfecta, Type 1e according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 tooth mineralization GO:0034505 8.96 AMELX AMELY
2 biomineral tissue development GO:0031214 8.8 AMELX AMELY TUFT1

Molecular functions related to Amelogenesis Imperfecta, Type 1e according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 structural constituent of tooth enamel GO:0030345 8.8 AMELX AMELY TUFT1

Sources for Amelogenesis Imperfecta, Type 1e

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....