AI2A1
MCID: AML024
MIFTS: 20

Amelogenesis Imperfecta, Type Iia1 (AI2A1) malady

Categories: Genetic diseases (common), Oral diseases

Aliases & Classifications for Amelogenesis Imperfecta, Type Iia1

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Aliases & Descriptions for Amelogenesis Imperfecta, Type Iia1:

Name: Amelogenesis Imperfecta, Type Iia1 52 12
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 24 27 68
Ai2a1 11 24 70
Amelogenesis Imperfecta Pigmented Hypomaturation Type 1 11 70
Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 1 24
Amelogenesis Imperfecta, Hypomaturation Type, 2a1 70
 
Amelogenesis Imperfecta 2 Hypocalcification Type 70
Amelogenesis Imperfecta Hypomineralization Type 70
Amelogenesis Imperfecta Type Iia1 11
Amelogenesis Imperfecta Type 2a1 11
Aiph 70

Characteristics:

HPO:

64
amelogenesis imperfecta, type iia1:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 204700
Disease Ontology11 DOID:0110057
ICD1030 K00.5
MedGen37 C2673922
MeSH39 D000567

Summaries for Amelogenesis Imperfecta, Type Iia1

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OMIM:52 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 iia2, 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:70 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.

Disease Ontology:11 An amelogenesis imperfecta that has material basis in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13.

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 iia211.2
3amelogenesis imperfecta, type iv11.2

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Iia1

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Symptoms by clinical synopsis from OMIM:

204700

Clinical features from OMIM:

204700

Human phenotypes related to Amelogenesis Imperfecta, Type Iia1:

 64
id Description HPO Frequency HPO Source Accession
1 carious teeth64 HP:0000670
2 amelogenesis imperfecta64 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, Iia127 24 KLK4

Anatomical Context for Amelogenesis Imperfecta, Type Iia1

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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.632delT (p.Leu211Argfs)deletionPathogenicrs556734208GRCh37Chr 19, 51410323: 51410323
3KLK4NM_ 004917.4(KLK4): c.458G> A (p.Trp153Ter)SNVPathogenicrs104894704GRCh37Chr 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
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