MCID: AML016
MIFTS: 28

Amelogenesis Imperfecta, Type 1e malady

Genetic diseases, Oral diseases, Rare diseases, Nephrological diseases, Fetal diseases categories
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Summaries for Amelogenesis Imperfecta, Type 1e

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47OMIM, 33MalaCards
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MalaCards: Amelogenesis Imperfecta, Type 1e, also known as amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 1, is related to amelogenesis imperfecta and taurodontism. An important gene associated with Amelogenesis Imperfecta, Type 1e is AMELX (amelogenin, X-linked).

Description from OMIM:47 301200, 613211, 614832, 130900, 612529 104510, 204700, 104500, 104530, 204650, 301201, 615887 more

Aliases & Classifications for Amelogenesis Imperfecta, Type 1e

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20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
amelogenesis imperfecta:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic,X-linked dominant,X-linked recessive; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

amelogenesis imperfecta, type 1e 20 22 47
amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 1 62
amelogenesis imperfecta 49


External Ids:

MESH via Orphanet36 D000567
ICD10 via Orphanet26 K00.5
SNOMED-CT via Orphanet59 78494001
UMLS via Orphanet63 C0002452

Related Diseases for Amelogenesis Imperfecta, Type 1e

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17GeneCards, 18GeneDecks
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Diseases in the Amelogenesis Imperfecta, Type 1e family:

Amelogenesis Imperfecta Amelogenesis Imperfecta, Type Ib
Amelogenesis Imperfecta, Type Ic Amelogenesis Imperfecta, Type Iii
Amelogenesis Imperfecta, Type Iv Amelogenesis Imperfecta, Type Ig

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

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1amelogenesis imperfecta11.5
2taurodontism10.7
3cone-rod dystrophy amelogenesis imperfecta10.7
4nephrocalcinosis10.6
5cone-rod dystrophy10.6
6gingivitis10.6
7amelogenesis imperfecta, type ib10.6
8amelogenesis imperfecta, type iv10.6
9amelogenesis imperfecta, type iii10.6
10amelogenesis imperfecta, type ic10.5
11amelogenesis imperfecta, type ia510.5
12dentinogenesis imperfecta10.5
13periodontitis10.5
14amelogenesis imperfecta hypomaturation type10.5
15amelogenesis imperfecta hypoplastic type, ig10.5
16amelogenesis imperfecta local hypoplastic10.5
17amelogenesis imperfecta, hypomaturation type, iia110.5
18amelogenesis imperfecta, hypomaturation type, iia210.5
19amelogenesis imperfecta, hypomaturation type, iia310.5
20amelogenesis imperfecta and gingival fibromatosis syndrome10.5
21amelogenesis imperfecta, type ig10.5
22amelogenesis imperfecta, type iia110.5
23amelogenesis imperfecta and gingival hyperplasia syndrome10.5
24brachyolmia-amelogenesis imperfecta syndrome10.5
25dementia10.4
26amelogenesis imperfecta hypoplastic/hypomaturation x-linked 110.4
27amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 210.4
28kohlschutter tonz syndrome10.4
29verloes bourguignon syndrome10.4
30amelogenesis imperfecta, type iia210.4
31dentin dysplasia10.3
32renal tubular acidosis10.3
33epidermolysis bullosa10.3
34amelogenesis imperfecta pigmented hypomaturation type10.3
35fibromatosis10.3
36tricho-dento-osseous syndrome10.3
37amelogenesis imperfecta type, iia410.3
38amelogenesis imperfecta, type iia310.3
39amelogenesis imperfecta, type ie, x-linked 210.3
40trichodysplasia - amelogenesis imperfecta10.3
41neurofibromatosis10.2
42pseudoxanthoma elasticum10.2
43aggressive periodontitis10.2
44fibroma10.2
45cleft lip10.2
46microphthalmia10.2
47polycystic kidney disease10.2
48dental fluorosis10.2
49junctional epidermolysis bullosa10.2
50sensorineural hearing loss10.2

Graphical network of the top 20 diseases related to Amelogenesis Imperfecta, Type 1e:



Diseases related to amelogenesis imperfecta, type 1e

Symptoms for Amelogenesis Imperfecta, Type 1e

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47OMIM
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Symptoms by clinical synopsis from OMIM:

301200

Clinical features from OMIM:

301200, 613211, 614832, 130900, 612529, 104510, 204700, 104500, 104530, 204650 301201, 615887 more

Drugs & Therapeutics for Amelogenesis Imperfecta, Type 1e

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42NIH Clinical Center, 6ClinicalTrials
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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

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20GeneTests, 22GTR
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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

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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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Amelogenesis Imperfecta, Type 1e:

64
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:

1 (show all 11)
id Gene Name 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

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Amelogenesis Imperfecta, Type 1e

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Pathways for genes affiliated with Amelogenesis Imperfecta, Type 1e

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Compounds 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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Products for genes affiliated with Amelogenesis Imperfecta, Type 1e

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Amelogenesis Imperfecta, Type 1e

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet