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

About this section

Aliases & Descriptions for Amelogenesis Imperfecta, Type 1e:

Name: Amelogenesis Imperfecta, Type 1e 52 24
Aih1 11 48 24 70
Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2 48 68
Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 1 24 68
Amelogenesis Imperfecta Hypoplastic/hypomaturation X-Linked 1 48 70
Amelogenesis Imperfecta, Hypoplastic/hypomaturation Type 1e 70 12
Amelogenesis Imperfecta Type Ie 11 70
Enamel Hypoplasia, X-Linked 48 24
Enamel Hypoplasia X-Linked 48 70
Amelogenesis Imperfecta 1e 70 27
Aih3 11 48
Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth 68
Amelogenesis Imperfecta Hypomaturation Type with Snow-Capped Teeth 70
 
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 48
X-Linked Amelogenesis Imperfecta 1 11
X-Linked Amelogenesis Imperfecta 70
Amelogenesis Imperfecta Type 1e 11
X-Linked Enamel Hypoplasia 11
Ai1e 70
Xai 70

Characteristics:

HPO:

64
amelogenesis imperfecta, type 1e:
Inheritance: x-linked dominant inheritance
Onset and clinical course: phenotypic variability
Inheritance: x-linked inheritance

Classifications:



External Ids:

OMIM52 301200
Disease Ontology11 DOID:0110058, DOID:0110059
ICD1030 K00.5
MeSH39 D000567

Summaries for Amelogenesis Imperfecta, Type 1e

About this section
OMIM:52 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:70 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

About this section

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 & Phenotypes for Amelogenesis Imperfecta, Type 1e

About this section

Symptoms by clinical synopsis from OMIM:

301200

Clinical features from OMIM:

301200

Human phenotypes related to Amelogenesis Imperfecta, Type 1e:

 64
id Description HPO Frequency HPO Source Accession
1 microdontia64 HP:0000691
2 amelogenesis imperfecta64 HP:0000705
3 abnormality of metabolism/homeostasis64 HP:0001939
4 hypoplasia of dental enamel64 HP:0006297
5 anterior open bite64 HP:0200095

Drugs & Therapeutics for Amelogenesis Imperfecta, Type 1e

About this section

Interventional clinical trials:

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

Genetic Tests for Amelogenesis Imperfecta, Type 1e

About this section

Genetic tests related to Amelogenesis Imperfecta, Type 1e:

id Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Type 1e27 24 AMELX

Anatomical Context for Amelogenesis Imperfecta, Type 1e

About this section

Publications for Amelogenesis Imperfecta, Type 1e

About this section

Variations for Amelogenesis Imperfecta, Type 1e

About this section

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

70
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

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

Pathways for genes affiliated with Amelogenesis Imperfecta, Type 1e

About this section

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

About this section

Sources for Amelogenesis Imperfecta, Type 1e

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet