MCID: AML016
MIFTS: 23

Amelogenesis Imperfecta, Type 1e malady

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

Aliases & Classifications for Amelogenesis Imperfecta, Type 1e

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Aliases & Descriptions for Amelogenesis Imperfecta, Type 1e:

Name: Amelogenesis Imperfecta, Type 1e 50 23
Aih1 46 23 68
Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 1 23 66
Amelogenesis Imperfecta Hypoplastic/hypomaturation X-Linked 1 46 68
Amelogenesis Imperfecta, Hypoplastic/hypomaturation Type 1e 68 12
Amelogenesis Imperfecta Type Ie 68 25
Enamel Hypoplasia X-Linked 46 68
 
Amelogenesis Imperfecta Hypomaturation Type with Snow-Capped Teeth 68
Amelogenesis Imperfecta X-Linked 1 46
X-Linked Amelogenesis Imperfecta 68
Enamel Hypoplasia, X-Linked 23
Amelogenesis Imperfecta 1e 68
Ai1e 68
Xai 68

Characteristics:

HPO:

62
amelogenesis imperfecta, type 1e:
Inheritance: x-linked dominant inheritance
Onset and clinical course: phenotypic variability


Classifications:



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OMIM50 301200
MeSH37 D000567

Summaries for Amelogenesis Imperfecta, Type 1e

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OMIM:50 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 amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 and amelogenesis imperfecta, and has symptoms including microdontia, amelogenesis imperfecta and abnormality of metabolism/homeostasis. An important gene associated with Amelogenesis Imperfecta, Type 1e is AMELX (Amelogenin, X-Linked).

UniProtKB/Swiss-Prot:68 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 1e

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Symptoms for Amelogenesis Imperfecta, Type 1e

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Symptoms by clinical synopsis from OMIM:

301200

Clinical features from OMIM:

301200

HPO human phenotypes related to Amelogenesis Imperfecta, Type 1e:

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

Drugs & Therapeutics for Amelogenesis Imperfecta, Type 1e

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Interventional clinical trials:

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

Genetic Tests for Amelogenesis Imperfecta, Type 1e

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Genetic tests related to Amelogenesis Imperfecta, Type 1e:

id Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Type 1e25 23 AMELX

Anatomical Context for Amelogenesis Imperfecta, Type 1e

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Animal Models for Amelogenesis Imperfecta, Type 1e or affiliated genes

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Publications for Amelogenesis Imperfecta, Type 1e

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Variations for Amelogenesis Imperfecta, Type 1e

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

68
id Symbol AA change Variation ID SNP ID
1AMELXp.Trp4SerVAR_037581rs104894738
2AMELXp.Thr37IleVAR_037582rs104894733
3AMELXp.Pro56ThrVAR_037583rs104894736

Clinvar genetic disease variations for Amelogenesis Imperfecta, Type 1e:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_001287242.1(ARHGAP6): c.49-45951_49-41228deldeletionPathogenicGRCh37Chr X, 11314055: 11318781
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

Expression for genes affiliated with Amelogenesis Imperfecta, Type 1e

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

Pathways for genes affiliated with Amelogenesis Imperfecta, Type 1e

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GO Terms for genes affiliated with Amelogenesis Imperfecta, Type 1e

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Sources for Amelogenesis Imperfecta, Type 1e

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet