AI2A1
MCID: AML013
MIFTS: 18

Amelogenesis Imperfecta, Hypomaturation Type, Iia1 (AI2A1)

Categories: Genetic diseases

Aliases & Classifications for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

MalaCards integrated aliases for Amelogenesis Imperfecta, Hypomaturation Type, Iia1:

Name: Amelogenesis Imperfecta, Hypomaturation Type, Iia1 58 30 6 41 74
Amelogenesis Imperfecta, Type Iia1 58 13
Ai2a1 58 76
Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 1 58
Amelogenesis Imperfecta Pigmented Hypomaturation Type 1 76
Amelogenesis Imperfecta, Hypomaturation Type, 2a1 76
Amelogenesis Imperfecta 2 Hypocalcification Type 76
Amelogenesis Imperfecta Hypomineralization Type 76
Aiph 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
detailed clinical information provided for 2 klk-mutation-positive families (last curated march 2015)


HPO:

33
amelogenesis imperfecta, hypomaturation type, iia1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 204700
MeSH 45 D000567
MedGen 43 C2673922
SNOMED-CT via HPO 70 258211005 78494001 80967001
UMLS 74 C2673922

Summaries for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

OMIM : 58 Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin (Witkop, 1989). (204700)

MalaCards based summary : Amelogenesis Imperfecta, Hypomaturation Type, Iia1, also known as amelogenesis imperfecta, type iia1, is related to amelogenesis imperfecta, type iiia and amelogenesis imperfecta type 2a1. An important gene associated with Amelogenesis Imperfecta, Hypomaturation Type, Iia1 is KLK4 (Kallikrein Related Peptidase 4). Related phenotypes are carious teeth and amelogenesis imperfecta

UniProtKB/Swiss-Prot : 76 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, Hypomaturation Type, Iia1

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

# Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, type iiia 11.7
2 amelogenesis imperfecta type 2a1 11.6
3 amelogenesis imperfecta, hypomaturation type, iia2 11.5
4 amelogenesis imperfecta, type iv 11.5

Symptoms & Phenotypes for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

Human phenotypes related to Amelogenesis Imperfecta, Hypomaturation Type, Iia1:

33
# Description HPO Frequency HPO Source Accession
1 carious teeth 33 HP:0000670
2 amelogenesis imperfecta 33 HP:0000705

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Teeth:
caries
enamel is of normal thickness
yellow brown discolored teeth
normal size and shape of teeth
excessive sensitivity to hot and cold
more

Clinical features from OMIM:

204700

Drugs & Therapeutics for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

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

Genetic Tests for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

Genetic tests related to Amelogenesis Imperfecta, Hypomaturation Type, Iia1:

# Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Hypomaturation Type, Iia1 30 KLK4

Anatomical Context for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

Publications for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

Variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

ClinVar genetic disease variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KLK4 NM_004917.4(KLK4): c.245delG (p.Gly82Alafs) deletion Pathogenic rs786204825 GRCh38 Chromosome 19, 50908809: 50908809
2 KLK4 NM_004917.4(KLK4): c.245delG (p.Gly82Alafs) deletion Pathogenic rs786204825 GRCh37 Chromosome 19, 51412065: 51412065
3 KLK4 NM_004917.4(KLK4): c.458G> A (p.Trp153Ter) single nucleotide variant Pathogenic rs104894704 GRCh37 Chromosome 19, 51411852: 51411852
4 KLK4 NM_004917.4(KLK4): c.458G> A (p.Trp153Ter) single nucleotide variant Pathogenic rs104894704 GRCh38 Chromosome 19, 50908596: 50908596
5 KLK4 NM_004917.4(KLK4): c.632delT (p.Leu211Argfs) deletion Pathogenic rs556734208 GRCh37 Chromosome 19, 51410323: 51410323
6 KLK4 NM_004917.4(KLK4): c.632delT (p.Leu211Argfs) deletion Pathogenic rs556734208 GRCh38 Chromosome 19, 50907067: 50907067

Expression for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

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

Pathways for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

GO Terms for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

Sources for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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