AI2A3
MCID: AML015
MIFTS: 16

Amelogenesis Imperfecta, Hypomaturation Type, Iia3 (AI2A3)

Categories: Genetic diseases, Oral diseases

Aliases & Classifications for Amelogenesis Imperfecta, Hypomaturation Type, Iia3

MalaCards integrated aliases for Amelogenesis Imperfecta, Hypomaturation Type, Iia3:

Name: Amelogenesis Imperfecta, Hypomaturation Type, Iia3 58 30 13 6 41 74
Ai2a3 58 12 76
Amelogenesis Imperfecta Hypomaturation Type Iia3 12 76
Amelogenesis Imperfecta, Hypomaturation Type, 2a3 76
Amelogenesis Imperfecta Hypomaturation Type 2a3 12
Amelogenesis Imperfecta, Type Iia3 58
Amelogenesis Imperfecta Type Iia3 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
amelogenesis imperfecta, hypomaturation type, iia3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110061
OMIM 58 613211
MeSH 45 D000567
ICD10 34 K00.5
MedGen 43 C2750771
SNOMED-CT via HPO 70 258211005 78494001
UMLS 74 C2750771

Summaries for Amelogenesis Imperfecta, Hypomaturation Type, Iia3

UniProtKB/Swiss-Prot : 76 Amelogenesis imperfecta, hypomaturation type, 2A3: 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.

MalaCards based summary : Amelogenesis Imperfecta, Hypomaturation Type, Iia3, is also known as ai2a3. An important gene associated with Amelogenesis Imperfecta, Hypomaturation Type, Iia3 is WDR72 (WD Repeat Domain 72). Related phenotypes are amelogenesis imperfecta and hypomature dental enamel

Disease Ontology : 12 An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene.

Description from OMIM: 613211

Related Diseases for Amelogenesis Imperfecta, Hypomaturation Type, Iia3

Symptoms & Phenotypes for Amelogenesis Imperfecta, Hypomaturation Type, Iia3

Human phenotypes related to Amelogenesis Imperfecta, Hypomaturation Type, Iia3:

33
# Description HPO Frequency HPO Source Accession
1 amelogenesis imperfecta 33 HP:0000705
2 hypomature dental enamel 33 HP:0011085

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Teeth:
amelogenesis imperfecta
discolored enamel
opaque enamel at time of eruption
creamy enamel at time of eruption
posteruptive loss of surface enamel
more

Clinical features from OMIM:

613211

Drugs & Therapeutics for Amelogenesis Imperfecta, Hypomaturation Type, Iia3

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta, Hypomaturation Type, Iia3

Genetic Tests for Amelogenesis Imperfecta, Hypomaturation Type, Iia3

Genetic tests related to Amelogenesis Imperfecta, Hypomaturation Type, Iia3:

# Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Hypomaturation Type, Iia3 30 WDR72

Anatomical Context for Amelogenesis Imperfecta, Hypomaturation Type, Iia3

Publications for Amelogenesis Imperfecta, Hypomaturation Type, Iia3

Variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia3

ClinVar genetic disease variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR72 NM_182758.3(WDR72): c.1467_1468delAT (p.Val491Aspfs) deletion Pathogenic rs606231462 GRCh38 Chromosome 15, 53702235: 53702236
2 WDR72 NM_182758.3(WDR72): c.1467_1468delAT (p.Val491Aspfs) deletion Pathogenic rs606231462 GRCh37 Chromosome 15, 53994432: 53994433
3 WDR72 NM_182758.3(WDR72): c.2348C> G (p.Ser783Ter) single nucleotide variant Pathogenic rs267607178 GRCh37 Chromosome 15, 53908055: 53908055
4 WDR72 NM_182758.3(WDR72): c.2348C> G (p.Ser783Ter) single nucleotide variant Pathogenic rs267607178 GRCh38 Chromosome 15, 53615858: 53615858
5 WDR72 NM_182758.3(WDR72): c.2934G> A (p.Trp978Ter) single nucleotide variant Pathogenic rs143816093 GRCh37 Chromosome 15, 53901728: 53901728
6 WDR72 NM_182758.3(WDR72): c.2934G> A (p.Trp978Ter) single nucleotide variant Pathogenic rs143816093 GRCh38 Chromosome 15, 53609531: 53609531
7 WDR72 NM_182758.3(WDR72): c.2857delA (p.Ser953Valfs) deletion Pathogenic rs606231351 GRCh37 Chromosome 15, 53905878: 53905878
8 WDR72 NM_182758.3(WDR72): c.2857delA (p.Ser953Valfs) deletion Pathogenic rs606231351 GRCh38 Chromosome 15, 53613681: 53613681
9 WDR72 NM_182758.3(WDR72): c.2686C> T (p.Arg896Ter) single nucleotide variant Pathogenic rs557128345 GRCh38 Chromosome 15, 53615520: 53615520
10 WDR72 NM_182758.3(WDR72): c.2686C> T (p.Arg896Ter) single nucleotide variant Pathogenic rs557128345 GRCh37 Chromosome 15, 53907717: 53907717

Expression for Amelogenesis Imperfecta, Hypomaturation Type, Iia3

Search GEO for disease gene expression data for Amelogenesis Imperfecta, Hypomaturation Type, Iia3.

Pathways for Amelogenesis Imperfecta, Hypomaturation Type, Iia3

GO Terms for Amelogenesis Imperfecta, Hypomaturation Type, Iia3

Sources for Amelogenesis Imperfecta, Hypomaturation Type, Iia3

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
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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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