MCID: AML024
MIFTS: 20

Amelogenesis Imperfecta, Type Iia1 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 51 12
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 24 26 67
Ai2a1 11 24 69
Amelogenesis Imperfecta Pigmented Hypomaturation Type 1 11 69
Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 1 24
Amelogenesis Imperfecta, Hypomaturation Type, 2a1 69
 
Amelogenesis Imperfecta 2 Hypocalcification Type 69
Amelogenesis Imperfecta Hypomineralization Type 69
Amelogenesis Imperfecta Type Iia1 11
Amelogenesis Imperfecta Type 2a1 11
Aiph 69

Characteristics:

HPO:

63
amelogenesis imperfecta, type iia1:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 204700
Disease Ontology11 DOID:0110057
ICD1029 K00.5
MedGen36 C2673922
MeSH38 D000567

Summaries for Amelogenesis Imperfecta, Type Iia1

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OMIM:51 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).

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

UniProtKB/Swiss-Prot:69 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 iv11.2

Symptoms 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:

 63
id Description HPO Frequency HPO Source Accession
1 carious teeth63 HP:0000670
2 amelogenesis imperfecta63 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, Iia126 24 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.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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet