MCID: AML016
MIFTS: 21

Amelogenesis Imperfecta, Type 1e malady

Genetic diseases, Rare diseases, Oral diseases categories

Aliases & Classifications for Amelogenesis Imperfecta, Type 1e

About this section

Amelogenesis Imperfecta, Type 1e, Aliases & Descriptions:

Name: Amelogenesis Imperfecta, Type 1e 45
Amelogenesis Imperfecta Type 1 20 22
Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 1 60
Amelogenesis Imperfecta Hypoplastic/hypomaturation X-Linked 1 41
 
Amelogenesis Imperfecta X-Linked 1 41
Amelogenesis Imperfecta, Type Ie 45
Enamel Hypoplasia X-Linked 41
Aih1 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Oral diseases


External Ids:

OMIM45 301200

Summaries for Amelogenesis Imperfecta, Type 1e

About this section


OMIM:45 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 amelogenesis imperfecta type 1, is related to gamma heavy chain disease and amelogenesis imperfecta, and has symptoms including microdontia, amelogenesis imperfecta and x-linked dominant inheritance. An important gene associated with Amelogenesis Imperfecta, Type 1e is AMELX (amelogenin, X-linked).

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 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
1gamma heavy chain disease10.5
2amelogenesis imperfecta10.5
3amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 210.3

Symptoms for Amelogenesis Imperfecta, Type 1e

About this section

Symptoms by clinical synopsis from OMIM:

301200

Clinical features from OMIM:

301200

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

(show all 6)
id Description Frequency HPO Source Accession
1 microdontia HP:0000691
2 amelogenesis imperfecta HP:0000705
3 x-linked dominant inheritance HP:0001423
4 abnormality of metabolism/homeostasis HP:0001939
5 phenotypic variability HP:0003812
6 anterior open bite HP:0200095

Drugs & Therapeutics for Amelogenesis Imperfecta, Type 1e

About this section

Drug clinical trials:

Search ClinicalTrials for Amelogenesis Imperfecta, Type 1e

Search 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 1e20 AMELX
2 Amelogenesis Imperfecta, Type Ie22

Anatomical Context for Amelogenesis Imperfecta, Type 1e

About this section

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

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:

62
id Symbol AA change Variation ID SNP ID
1AMELXp.Trp4SerVAR_037581
2AMELXp.Thr37IleVAR_037582
3AMELXp.Pro56ThrVAR_037583

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

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1AMELXNG_012040.1: g.(7523_7526)_(12246_12249)deldeletionPathogenic
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

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

Compounds for genes affiliated with Amelogenesis Imperfecta, Type 1e

About this section

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

About this section

Products for genes affiliated with Amelogenesis Imperfecta, Type 1e

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Amelogenesis Imperfecta, Type 1e

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet