AI1E
MCID: AML016
MIFTS: 30

Amelogenesis Imperfecta, Type 1e (AI1E) malady

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

Aliases & Classifications for Amelogenesis Imperfecta, Type 1e

Aliases & Descriptions for Amelogenesis Imperfecta, Type 1e:

Name: Amelogenesis Imperfecta, Type 1e 54 24
Aih1 12 50 24 66
Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 1 24 69
Amelogenesis Imperfecta Hypoplastic/hypomaturation X-Linked 1 50 66
Amelogenesis Imperfecta, Hypoplastic/hypomaturation Type 1e 66 13
Amelogenesis Imperfecta Type 1e 12 14
Amelogenesis Imperfecta Type Ie 12 66
Enamel Hypoplasia X-Linked 50 66
Amelogenesis Imperfecta 1e 66 29
Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth 69
Amelogenesis Imperfecta Hypomaturation Type with Snow-Capped Teeth 66
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 66
Enamel Hypoplasia, X-Linked 24
X-Linked Enamel Hypoplasia 12
Ai1e 66
Xai 66

Characteristics:

HPO:

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


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... (301200) more...

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 abnormality of metabolism/homeostasis, microdontia and amelogenesis imperfecta. An important gene associated with Amelogenesis Imperfecta, Type 1e is AMELX (Amelogenin, X-Linked).

UniProtKB/Swiss-Prot : 66 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 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 Amelogenesis Imperfecta 1j

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 11.1
2 amelogenesis imperfecta 10.2
3 arrhythmogenic right ventricular dysplasia 4 10.1 AMELX AMELY
4 retinitis pigmentosa 59 10.1 AMELX AMELY
5 ocular cancer 10.1 AMELX AMELY
6 basal cell carcinoma 10.1 AMELX AMELY
7 intramuscular hemangioma 10.1 AMELX AMELY
8 accommodative spasm 10.1 AMELX AMELY
9 neuroschistosomiasis 10.1 AMELX AMELY
10 bronchus cancer 10.1 AMELX AMELY
11 autonomic peripheral neuropathy 10.1 AMELX SEPSECS
12 breast cystic hypersecretory carcinoma 10.0 AMELX AMELY
13 fungal gastritis 10.0 AMELX AMELY
14 ovarian malignant mesothelioma 10.0 AMELX AMELY
15 female breast upper-inner quadrant cancer 9.9 AMELX AMELY
16 microphthalmia 9.8
17 b-cell lymphomas 9.8 CYP2D6 FTCD SEPSECS
18 trichomegaly 9.6 ASGR1 CYP2D6 FTCD SEPSECS
19 autoimmune disease of skin and connective tissue 9.4 AMELX ASGR1 CYP2D6 FTCD SEPSECS
20 fetal hemoglobin quantitative trait locus 3 9.0 AMELX AMELY ASGR1 CYP2D6 FTCD NFKBIL1

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 by clinical synopsis from OMIM:

301200

Clinical features from OMIM:

301200

Human phenotypes related to Amelogenesis Imperfecta, Type 1e:

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

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:

66
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 GRCh37 Chromosome X, 11316366: 11316366
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 biomineral tissue development GO:0031214 8.96 AMELX AMELY
2 tooth mineralization GO:0034505 8.62 AMELX AMELY

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 8.62 AMELX AMELY

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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