MCID: AML016
MIFTS: 24

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 51 24
Aih1 11 47 24 69
Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2 47 67
Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 1 24 67
Amelogenesis Imperfecta Hypoplastic/hypomaturation X-Linked 1 47 69
Amelogenesis Imperfecta, Hypoplastic/hypomaturation Type 1e 69 12
Amelogenesis Imperfecta Type Ie 11 69
Enamel Hypoplasia, X-Linked 47 24
Enamel Hypoplasia X-Linked 47 69
Amelogenesis Imperfecta 1e 69 26
Aih3 11 47
Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth 67
Amelogenesis Imperfecta Hypomaturation Type with Snow-Capped Teeth 69
 
Amelogenesis Imperfecta Hypomaturationtype with Snow-Capped Teeth 11
X-Linked Amelogenesis Imperfecta Hypoplastic/hypomaturation 2 11
X-Linked Amelogenesis Imperfecta Hypoplastic/hypomaturation 1 11
Amelogenesis Imperfecta-3, Hypoplastic Type 12
Amelogenesis Imperfecta 3 Hypoplastic Type 11
Amelogenesis Imperfecta Type Ie X-Linked 2 11
Amelogenesis Imperfecta X-Linked 1 47
X-Linked Amelogenesis Imperfecta 1 11
X-Linked Amelogenesis Imperfecta 69
Amelogenesis Imperfecta Type 1e 11
X-Linked Enamel Hypoplasia 11
Ai1e 69
Xai 69

Characteristics:

HPO:

63
amelogenesis imperfecta, type 1e:
Inheritance: x-linked dominant inheritance
Onset and clinical course: phenotypic variability
Inheritance: x-linked inheritance

Classifications:



External Ids:

OMIM51 301200
Disease Ontology11 DOID:0110058, DOID:0110059
ICD1029 K00.5
MeSH38 D000567

Summaries for Amelogenesis Imperfecta, Type 1e

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OMIM:51 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 and microphthalmia, 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).

Disease Ontology:11 An amelogenesis imperfecta that has material basis in mutation in the gene encoding amelogenin (AMELX).

UniProtKB/Swiss-Prot:69 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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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

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

idRelated DiseaseScoreTop Affiliating Genes
1amelogenesis imperfecta10.2
2microphthalmia9.8

Symptoms for Amelogenesis Imperfecta, Type 1e

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Symptoms by clinical synopsis from OMIM:

301200

Clinical features from OMIM:

301200

Human phenotypes related to Amelogenesis Imperfecta, Type 1e:

 63
id Description HPO Frequency HPO Source Accession
1 microdontia63 HP:0000691
2 amelogenesis imperfecta63 HP:0000705
3 abnormality of metabolism/homeostasis63 HP:0001939
4 hypoplasia of dental enamel63 HP:0006297
5 anterior open bite63 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 1e26 24 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:

69
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
1AMELXNM_001287242.1(ARHGAP6): c.49-45951_49-41228deldeletionPathogenicGRCh37Chr X, 11314055: 11318781
2AMELXNM_182680.1(AMELX): c.155delC (p.Pro52Leufs)deletionPathogenicrs387906487GRCh37Chr X, 11316366: 11316366
3AMELXNM_182680.1(AMELX): c.14_22delTTTTATTTG (p.Ile5_Ala8delinsThr)deletionPathogenicrs387906488GRCh37Chr X, 11312922: 11312930
4AMELXNM_182680.1(AMELX): c.473delC (p.Pro158Hisfs)deletionPathogenicrs387906489GRCh37Chr X, 11316954: 11316954
5AMELXNM_182680.1(AMELX): c.152C> T (p.Thr51Ile)SNVPathogenicrs104894733GRCh37Chr X, 11316363: 11316363
6AMELXNM_182680.1(AMELX): c.571G> T (p.Glu191Ter)SNVPathogenicrs104894734GRCh37Chr X, 11317052: 11317052
7AMELXNM_182680.1(AMELX): c.208C> A (p.Pro70Thr)SNVPathogenicrs104894736GRCh37Chr X, 11316689: 11316689
8AMELXNM_182680.1(AMELX): c.541delC (p.Leu181Cysfs)deletionPathogenicrs387906490GRCh37Chr X, 11317022: 11317022
9AMELXNM_182680.1(AMELX): c.420delC (p.Tyr141Thrfs)deletionPathogenicrs387906491GRCh37Chr X, 11316901: 11316901
10AMELXNM_182680.1(AMELX): c.2T> C (p.Met1Thr)SNVPathogenicrs104894737GRCh37Chr X, 11312910: 11312910
11AMELXNM_182680.1(AMELX): c.11G> C (p.Trp4Ser)SNVPathogenicrs104894738GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet