MCID: AML024
MIFTS: 19

Amelogenesis Imperfecta, Type Iia1 malady

Category: Genetic diseases (common)

Aliases & Classifications for Amelogenesis Imperfecta, Type Iia1

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Aliases & Descriptions for Amelogenesis Imperfecta, Type Iia1:

Name: Amelogenesis Imperfecta, Type Iia1 50 12
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 23 25 66
Ai2a1 23 68
Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 1 23
Amelogenesis Imperfecta Pigmented Hypomaturation Type 1 68
 
Amelogenesis Imperfecta, Hypomaturation Type, 2a1 68
Amelogenesis Imperfecta 2 Hypocalcification Type 68
Amelogenesis Imperfecta Hypomineralization Type 68
Aiph 68

Characteristics:

HPO:

62
amelogenesis imperfecta, type iia1:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 204700
MedGen35 C2673922
MeSH37 D000567

Summaries for Amelogenesis Imperfecta, Type Iia1

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OMIM:50 Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal... (204700) more...

MalaCards based summary: Amelogenesis Imperfecta, Type Iia1, also known as amelogenesis imperfecta, hypomaturation type, iia1, is related to amelogenesis imperfecta, type iii and amelogenesis imperfecta, type iv, and has symptoms including carious teeth and amelogenesis imperfecta. An important gene associated with Amelogenesis Imperfecta, Type Iia1 is KLK4 (Kallikrein Related Peptidase 4).

UniProtKB/Swiss-Prot:68 Amelogenesis imperfecta, hypomaturation type, 2A1: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.

Related Diseases for Amelogenesis Imperfecta, Type Iia1

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Diseases related to Amelogenesis Imperfecta, Type Iia1 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1amelogenesis imperfecta, type iii11.4
2amelogenesis imperfecta, type iv11.3

Symptoms for Amelogenesis Imperfecta, Type Iia1

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Symptoms by clinical synopsis from OMIM:

204700

Clinical features from OMIM:

204700

HPO human phenotypes related to Amelogenesis Imperfecta, Type Iia1:

id Description Frequency HPO Source Accession
1 carious teeth HP:0000670
2 amelogenesis imperfecta HP:0000705

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Iia1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Amelogenesis Imperfecta, Type Iia1

Genetic Tests for Amelogenesis Imperfecta, Type Iia1

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Genetic tests related to Amelogenesis Imperfecta, Type Iia1:

id Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Hypomaturation Type, Iia125 23 KLK4

Anatomical Context for Amelogenesis Imperfecta, Type Iia1

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Animal Models for Amelogenesis Imperfecta, Type Iia1 or affiliated genes

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Publications for Amelogenesis Imperfecta, Type Iia1

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Variations for Amelogenesis Imperfecta, Type Iia1

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Clinvar genetic disease variations for Amelogenesis Imperfecta, Type Iia1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KLK4NM_004917.4(KLK4): c.245delG (p.Gly82Alafs)deletionPathogenicrs786204825GRCh38Chr 19, 50908809: 50908809
2KLK4NM_004917.4(KLK4): c.458G> A (p.Trp153Ter)single nucleotide variantPathogenicrs104894704GRCh37Chr 19, 51411852: 51411852

Expression for genes affiliated with Amelogenesis Imperfecta, Type Iia1

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Search GEO for disease gene expression data for Amelogenesis Imperfecta, Type Iia1.

Pathways for genes affiliated with Amelogenesis Imperfecta, Type Iia1

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GO Terms for genes affiliated with Amelogenesis Imperfecta, Type Iia1

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Sources for Amelogenesis Imperfecta, Type Iia1

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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