AI2A1
MCID: AML024
MIFTS: 20

Amelogenesis Imperfecta, Type Iia1 (AI2A1) malady

Categories: Genetic diseases, Oral diseases

Aliases & Classifications for Amelogenesis Imperfecta, Type Iia1

Aliases & Descriptions for Amelogenesis Imperfecta, Type Iia1:

Name: Amelogenesis Imperfecta, Type Iia1 54 13
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 24 29 69
Ai2a1 12 24 66
Amelogenesis Imperfecta Pigmented Hypomaturation Type 1 12 66
Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 1 24
Amelogenesis Imperfecta, Hypomaturation Type, 2a1 66
Amelogenesis Imperfecta 2 Hypocalcification Type 66
Amelogenesis Imperfecta Hypomineralization Type 66
Amelogenesis Imperfecta Type Iia1 12
Amelogenesis Imperfecta Type 2a1 12
Aiph 66

Characteristics:

HPO:

32
amelogenesis imperfecta, type iia1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 204700
Disease Ontology 12 DOID:0110057
ICD10 33 K00.5
MedGen 40 C2673922
MeSH 42 D000567

Summaries for Amelogenesis Imperfecta, Type Iia1

OMIM : 54 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 : 66 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 : 12 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

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

id Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, type iii 11.4
2 amelogenesis imperfecta, type iia2 11.2
3 amelogenesis imperfecta, type iv 11.2

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Iia1

Symptoms by clinical synopsis from OMIM:

204700

Clinical features from OMIM:

204700

Human phenotypes related to Amelogenesis Imperfecta, Type Iia1:

32
id Description HPO Frequency HPO Source Accession
1 carious teeth 32 HP:0000670
2 amelogenesis imperfecta 32 HP:0000705

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Iia1

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

Genetic Tests for Amelogenesis Imperfecta, Type Iia1

Genetic tests related to Amelogenesis Imperfecta, Type Iia1:

id Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Hypomaturation Type, Iia1 29 24 KLK4

Anatomical Context for Amelogenesis Imperfecta, Type Iia1

Publications for Amelogenesis Imperfecta, Type Iia1

Variations for Amelogenesis Imperfecta, Type Iia1

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Iia1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KLK4 NM_004917.4(KLK4): c.458G> A (p.Trp153Ter) single nucleotide variant Pathogenic rs104894704 GRCh37 Chromosome 19, 51411852: 51411852
2 KLK4 NM_004917.4(KLK4): c.245delG (p.Gly82Alafs) deletion Pathogenic rs786204825 GRCh38 Chromosome 19, 50908809: 50908809
3 KLK4 NM_004917.4(KLK4): c.632delT (p.Leu211Argfs) deletion Pathogenic rs556734208 GRCh37 Chromosome 19, 51410323: 51410323

Expression for Amelogenesis Imperfecta, Type Iia1

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

Pathways for Amelogenesis Imperfecta, Type Iia1

GO Terms for Amelogenesis Imperfecta, Type Iia1

Sources for Amelogenesis Imperfecta, Type Iia1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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