MCID: AML015
MIFTS: 16

Amelogenesis Imperfecta, Hypomaturation Type, Iia3

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 57 29 13 6 40 73
Ai2a3 57 12 75
Amelogenesis Imperfecta Hypomaturation Type Iia3 12 75
Amelogenesis Imperfecta, Hypomaturation Type, 2a3 75
Amelogenesis Imperfecta Hypomaturation Type 2a3 12
Amelogenesis Imperfecta, Type Iia3 57
Amelogenesis Imperfecta Type Iia3 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
amelogenesis imperfecta, hypomaturation type, iia3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613211
Disease Ontology 12 DOID:0110061
ICD10 33 K00.5
MedGen 42 C2750771
MeSH 44 D000567
SNOMED-CT via HPO 69 258211005 78494001
UMLS 73 C2750771

Summaries for Amelogenesis Imperfecta, Hypomaturation Type, Iia3

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Teeth:
amelogenesis imperfecta
opaque enamel at time of eruption
creamy enamel at time of eruption
posteruptive loss of surface enamel
rough enamel
more

Clinical features from OMIM:

613211

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

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

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 29 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.2348C> G (p.Ser783Ter) single nucleotide variant Pathogenic rs267607178 GRCh37 Chromosome 15, 53908055: 53908055
2 WDR72 NM_182758.3(WDR72): c.2348C> G (p.Ser783Ter) single nucleotide variant Pathogenic rs267607178 GRCh38 Chromosome 15, 53615858: 53615858
3 WDR72 NM_182758.3(WDR72): c.2934G> A (p.Trp978Ter) single nucleotide variant Pathogenic rs143816093 GRCh37 Chromosome 15, 53901728: 53901728
4 WDR72 NM_182758.3(WDR72): c.2934G> A (p.Trp978Ter) single nucleotide variant Pathogenic rs143816093 GRCh38 Chromosome 15, 53609531: 53609531
5 WDR72 NM_182758.3(WDR72): c.2857delA (p.Ser953Valfs) deletion Pathogenic rs606231351 GRCh37 Chromosome 15, 53905878: 53905878
6 WDR72 NM_182758.3(WDR72): c.2857delA (p.Ser953Valfs) deletion Pathogenic rs606231351 GRCh38 Chromosome 15, 53613681: 53613681
7 WDR72 NM_182758.3(WDR72): c.1467_1468delAT (p.Val491Aspfs) deletion Pathogenic rs606231462 GRCh38 Chromosome 15, 53702235: 53702236
8 WDR72 NM_182758.3(WDR72): c.1467_1468delAT (p.Val491Aspfs) deletion Pathogenic rs606231462 GRCh37 Chromosome 15, 53994432: 53994433

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 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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