MCID: AML013
MIFTS: 18

Amelogenesis Imperfecta, Hypomaturation Type, Iia1

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 57 29 6 40 73
Amelogenesis Imperfecta, Type Iia1 57 13
Ai2a1 57 75
Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 1 57
Amelogenesis Imperfecta Pigmented Hypomaturation Type 1 75
Amelogenesis Imperfecta, Hypomaturation Type, 2a1 75
Amelogenesis Imperfecta 2 Hypocalcification Type 75
Amelogenesis Imperfecta Hypomineralization Type 75
Aiph 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
amelogenesis imperfecta, hypomaturation type, iia1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 204700
MedGen 42 C2673922
MeSH 44 D000567
SNOMED-CT via HPO 69 258211005 80967001 78494001
UMLS 73 C2673922

Summaries for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

OMIM : 57 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 : 75 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 11.5
2 amelogenesis imperfecta type 2a1 11.4
3 amelogenesis imperfecta, type iv 11.3
4 amelogenesis imperfecta, hypomaturation type, iia2 11.3

Symptoms & Phenotypes for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Teeth:
yellow brown discolored teeth
normal size and shape of teeth
enamel is of normal thickness
excessive sensitivity to hot and cold
enamel is prone to chipping
more

Clinical features from OMIM:

204700

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

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

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 29 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.458G> A (p.Trp153Ter) single nucleotide variant Pathogenic rs104894704 GRCh37 Chromosome 19, 51411852: 51411852
2 KLK4 NM_004917.4(KLK4): c.458G> A (p.Trp153Ter) single nucleotide variant Pathogenic rs104894704 GRCh38 Chromosome 19, 50908596: 50908596
3 KLK4 NM_004917.4(KLK4): c.245delG (p.Gly82Alafs) deletion Pathogenic rs786204825 GRCh38 Chromosome 19, 50908809: 50908809
4 KLK4 NM_004917.4(KLK4): c.245delG (p.Gly82Alafs) deletion Pathogenic rs786204825 GRCh37 Chromosome 19, 51412065: 51412065
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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