MCID: AML024
MIFTS: 22

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 49 11
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 22 24 65
Ai2a1 22 67
Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 1 22
Amelogenesis Imperfecta Pigmented Hypomaturation Type 1 67
 
Amelogenesis Imperfecta, Hypomaturation Type, 2a1 67
Amelogenesis Imperfecta 2 Hypocalcification Type 67
Amelogenesis Imperfecta Hypomineralization Type 67
Aiph 67

Characteristics:

HPO:

61
amelogenesis imperfecta, type iia1:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 204700
MedGen34 C2673922
MeSH36 D000567
UMLS65 C2673922

Summaries for Amelogenesis Imperfecta, Type Iia1

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OMIM:49 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 amelogenesis imperfectaand carious teeth. An important gene associated with Amelogenesis Imperfecta, Type Iia1 is KLK4 (Kallikrein Related Peptidase 4).

UniProtKB/Swiss-Prot:67 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 iii11.8
2amelogenesis imperfecta, type iv11.7

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 amelogenesis imperfecta HP:0000705
2 carious teeth HP:0000670

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, Iia122 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet