MCID: AML043
MIFTS: 18

Amelogenesis Imperfecta, Type Iia3

Categories: Genetic diseases, Oral diseases

Aliases & Classifications for Amelogenesis Imperfecta, Type Iia3

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Iia3:

Name: Amelogenesis Imperfecta, Type Iia3 54
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 24 29 13 69
Ai2a3 12 24 71
Amelogenesis Imperfecta Hypomaturation Type Iia3 12 71
Amelogenesis Imperfecta, Hypomaturation Type, 2a3 71
Amelogenesis Imperfecta Hypomaturation Type 2a3 12
Amelogenesis Imperfecta Type Iia3 12

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
amelogenesis imperfecta, type iia3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 613211
Disease Ontology 12 DOID:0110061
ICD10 33 K00.5
MedGen 40 C2750771
MeSH 42 D000567
SNOMED-CT via HPO 65 258211005 78494001

Summaries for Amelogenesis Imperfecta, Type Iia3

UniProtKB/Swiss-Prot : 71 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, Type Iia3, is also known as amelogenesis imperfecta, hypomaturation type, iia3, and has symptoms including amelogenesis imperfecta and hypomature dental enamel. An important gene associated with Amelogenesis Imperfecta, Type Iia3 is WDR72 (WD Repeat Domain 72).

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

Description from OMIM: 613211

Related Diseases for Amelogenesis Imperfecta, Type Iia3

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Iia3

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Teeth:
variable malocclusions (in some patients)
enamel layer shows reduced radiodensity
sensitive teeth (thermal and physical stimuli)
discolored enamel
posteruptive loss of surface enamel
more

Clinical features from OMIM:

613211

Human phenotypes related to Amelogenesis Imperfecta, Type Iia3:

32
id Description HPO Frequency HPO Source Accession
1 amelogenesis imperfecta 32 HP:0000705
2 hypomature dental enamel 32 HP:0011085

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Iia3

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

Genetic Tests for Amelogenesis Imperfecta, Type Iia3

Genetic tests related to Amelogenesis Imperfecta, Type Iia3:

id Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Hypomaturation Type, Iia3 29 24 WDR72

Anatomical Context for Amelogenesis Imperfecta, Type Iia3

Publications for Amelogenesis Imperfecta, Type Iia3

Variations for Amelogenesis Imperfecta, Type Iia3

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Iia3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 WDR72 NM_182758.3(WDR72): c.2348C> G (p.Ser783Ter) single nucleotide variant Pathogenic rs267607178 GRCh37 Chromosome 15, 53908055: 53908055
2 WDR72 NM_182758.3(WDR72): c.2934G> A (p.Trp978Ter) single nucleotide variant Pathogenic rs143816093 GRCh37 Chromosome 15, 53901728: 53901728
3 WDR72 NM_182758.3(WDR72): c.2857delA (p.Ser953Valfs) deletion Pathogenic rs606231351 GRCh37 Chromosome 15, 53905878: 53905878
4 WDR72 NM_182758.3(WDR72): c.1467_1468delAT (p.Val491Aspfs) deletion Pathogenic rs606231462 GRCh38 Chromosome 15, 53702235: 53702236

Expression for Amelogenesis Imperfecta, Type Iia3

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

Pathways for Amelogenesis Imperfecta, Type Iia3

GO Terms for Amelogenesis Imperfecta, Type Iia3

Sources for Amelogenesis Imperfecta, Type Iia3

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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