AI2A3
MCID: AML015
MIFTS: 23

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 57 29 13 6 39 70
Ai2a3 57 12 72
Amelogenesis Imperfecta Hypomaturation Type Iia3 12 72
Amelogenesis Imperfecta, Type Iia3 57 29
Amelogenesis Imperfecta, Hypomaturation Type, 2a3 72
Amelogenesis Imperfecta Hypomaturation Type 2a3 12
Amelogenesis Imperfecta Type Iia3 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
amelogenesis imperfecta, hypomaturation type, iia3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110061
OMIM® 57 613211
OMIM Phenotypic Series 57 PS104500
MeSH 44 D000567
ICD10 32 K00.5
MedGen 41 C2750771
SNOMED-CT via HPO 68 258211005 78494001
UMLS 70 C2750771

Summaries for Amelogenesis Imperfecta, Hypomaturation Type, Iia3

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 613211 PS104500

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:

31
# Description HPO Frequency HPO Source Accession
1 amelogenesis imperfecta 31 HP:0000705
2 hypomature dental enamel 31 HP:0011085

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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
2 Amelogenesis Imperfecta, Type Iia3 29

Anatomical Context for Amelogenesis Imperfecta, Hypomaturation Type, Iia3

Publications for Amelogenesis Imperfecta, Hypomaturation Type, Iia3

Articles related to Amelogenesis Imperfecta, Hypomaturation Type, Iia3:

# Title Authors PMID Year
1
Novel WDR72 mutation and cytoplasmic localization. 57 6
20938048 2010
2
Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta. 6 57
19853237 2009
3
Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations. 6
30028003 2018

Variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia3

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

6 (show top 50) (show all 133)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR72 NM_182758.4(WDR72):c.2348C>G (p.Ser783Ter) SNV Pathogenic 231 rs267607178 GRCh37: 15:53908055-53908055
GRCh38: 15:53615858-53615858
2 WDR72 NM_182758.4(WDR72):c.2857del (p.Ser953fs) Deletion Pathogenic 233 rs606231351 GRCh37: 15:53905878-53905878
GRCh38: 15:53613681-53613681
3 WDR72 NM_182758.4(WDR72):c.1467_1468del (p.Val491fs) Deletion Pathogenic 161415 rs606231462 GRCh37: 15:53994432-53994433
GRCh38: 15:53702235-53702236
4 WDR72 NM_182758.4(WDR72):c.2686C>T (p.Arg896Ter) SNV Pathogenic 522610 rs557128345 GRCh37: 15:53907717-53907717
GRCh38: 15:53615520-53615520
5 WDR72 NM_182758.4(WDR72):c.2934G>A (p.Trp978Ter) SNV Pathogenic 232 rs143816093 GRCh37: 15:53901728-53901728
GRCh38: 15:53609531-53609531
6 WDR72 NM_182758.4(WDR72):c.1777A>G (p.Arg593Gly) SNV Uncertain significance 522608 rs1376457227 GRCh37: 15:53957954-53957954
GRCh38: 15:53665757-53665757
7 WDR72 NM_182758.4(WDR72):c.1659C>T (p.Ala553=) SNV Uncertain significance 316592 rs886051299 GRCh37: 15:53992053-53992053
GRCh38: 15:53699856-53699856
8 WDR72 NM_182758.4(WDR72):c.*179A>G SNV Uncertain significance 316573 rs886051297 GRCh37: 15:53809717-53809717
GRCh38: 15:53517520-53517520
9 WDR72 NM_182758.4(WDR72):c.*2003G>C SNV Uncertain significance 887707 GRCh37: 15:53807893-53807893
GRCh38: 15:53515696-53515696
10 WDR72 NM_182758.4(WDR72):c.*1528C>G SNV Uncertain significance 887762 GRCh37: 15:53808368-53808368
GRCh38: 15:53516171-53516171
11 WDR72 NM_182758.4(WDR72):c.*1350A>T SNV Uncertain significance 887763 GRCh37: 15:53808546-53808546
GRCh38: 15:53516349-53516349
12 WDR72 NM_182758.4(WDR72):c.*723C>T SNV Uncertain significance 887835 GRCh37: 15:53809173-53809173
GRCh38: 15:53516976-53516976
13 WDR72 NM_182758.4(WDR72):c.*640T>C SNV Uncertain significance 887837 GRCh37: 15:53809256-53809256
GRCh38: 15:53517059-53517059
14 WDR72 NM_182758.4(WDR72):c.2444G>A (p.Cys815Tyr) SNV Uncertain significance 887895 GRCh37: 15:53907959-53907959
GRCh38: 15:53615762-53615762
15 WDR72 NM_182758.4(WDR72):c.2357T>G (p.Val786Gly) SNV Uncertain significance 887896 GRCh37: 15:53908046-53908046
GRCh38: 15:53615849-53615849
16 WDR72 NM_182758.4(WDR72):c.1963-10G>A SNV Uncertain significance 887897 GRCh37: 15:53908450-53908450
GRCh38: 15:53616253-53616253
17 WDR72 NM_182758.4(WDR72):c.957A>G (p.Glu319=) SNV Uncertain significance 887955 GRCh37: 15:53998269-53998269
GRCh38: 15:53706072-53706072
18 WDR72 NM_182758.4(WDR72):c.2872+4A>G SNV Uncertain significance 885634 GRCh37: 15:53905859-53905859
GRCh38: 15:53613662-53613662
19 WDR72 NM_182758.4(WDR72):c.1549A>G (p.Met517Val) SNV Uncertain significance 885691 GRCh37: 15:53994351-53994351
GRCh38: 15:53702154-53702154
20 WDR72 NM_182758.4(WDR72):c.1529G>A (p.Gly510Asp) SNV Uncertain significance 885692 GRCh37: 15:53994371-53994371
GRCh38: 15:53702174-53702174
21 WDR72 NM_182758.4(WDR72):c.1476C>A (p.Ile492=) SNV Uncertain significance 885693 GRCh37: 15:53994424-53994424
GRCh38: 15:53702227-53702227
22 WDR72 NM_182758.4(WDR72):c.243T>C (p.Val81=) SNV Uncertain significance 885746 GRCh37: 15:54015016-54015016
GRCh38: 15:53722819-53722819
23 WDR72 NM_182758.4(WDR72):c.*3810T>A SNV Uncertain significance 886397 GRCh37: 15:53806086-53806086
GRCh38: 15:53513889-53513889
24 WDR72 NM_182758.4(WDR72):c.*2470A>G SNV Uncertain significance 886457 GRCh37: 15:53807426-53807426
GRCh38: 15:53515229-53515229
25 WDR72 NM_182758.4(WDR72):c.*2390C>A SNV Uncertain significance 886458 GRCh37: 15:53807506-53807506
GRCh38: 15:53515309-53515309
26 WDR72 NM_182758.4(WDR72):c.*2378T>A SNV Uncertain significance 886459 GRCh37: 15:53807518-53807518
GRCh38: 15:53515321-53515321
27 WDR72 NM_182758.4(WDR72):c.*2215G>A SNV Uncertain significance 886460 GRCh37: 15:53807681-53807681
GRCh38: 15:53515484-53515484
28 WDR72 NM_182758.4(WDR72):c.*2209C>T SNV Uncertain significance 886461 GRCh37: 15:53807687-53807687
GRCh38: 15:53515490-53515490
29 WDR72 NM_182758.4(WDR72):c.*1620C>T SNV Uncertain significance 886518 GRCh37: 15:53808276-53808276
GRCh38: 15:53516079-53516079
30 WDR72 NM_182758.4(WDR72):c.*1553G>C SNV Uncertain significance 886519 GRCh37: 15:53808343-53808343
GRCh38: 15:53516146-53516146
31 WDR72 NM_182758.4(WDR72):c.*1014T>C SNV Uncertain significance 886581 GRCh37: 15:53808882-53808882
GRCh38: 15:53516685-53516685
32 WDR72 NM_182758.4(WDR72):c.*956G>A SNV Uncertain significance 886582 GRCh37: 15:53808940-53808940
GRCh38: 15:53516743-53516743
33 WDR72 NM_182758.4(WDR72):c.2569T>C (p.Tyr857His) SNV Uncertain significance 886649 GRCh37: 15:53907834-53907834
GRCh38: 15:53615637-53615637
34 WDR72 NM_182758.4(WDR72):c.1288A>G (p.Ile430Val) SNV Uncertain significance 886702 GRCh37: 15:53997245-53997245
GRCh38: 15:53705048-53705048
35 WDR72 NM_182758.4(WDR72):c.957A>T (p.Glu319Asp) SNV Uncertain significance 886703 GRCh37: 15:53998269-53998269
GRCh38: 15:53706072-53706072
36 WDR72 NM_182758.4(WDR72):c.153+14A>C SNV Uncertain significance 886750 GRCh37: 15:54025180-54025180
GRCh38: 15:53732983-53732983
37 WDR72 NM_182758.4(WDR72):c.127C>T (p.Leu43Phe) SNV Uncertain significance 886751 GRCh37: 15:54025220-54025220
GRCh38: 15:53733023-53733023
38 WDR72 NM_182758.4(WDR72):c.53A>G (p.His18Arg) SNV Uncertain significance 886752 GRCh37: 15:54025294-54025294
GRCh38: 15:53733097-53733097
39 WDR72 NM_182758.4(WDR72):c.*3691G>T SNV Uncertain significance 887397 GRCh37: 15:53806205-53806205
GRCh38: 15:53514008-53514008
40 WDR72 NM_182758.4(WDR72):c.*3627C>T SNV Uncertain significance 887398 GRCh37: 15:53806269-53806269
GRCh38: 15:53514072-53514072
41 WDR72 NM_182758.4(WDR72):c.*2766G>C SNV Uncertain significance 887464 GRCh37: 15:53807130-53807130
GRCh38: 15:53514933-53514933
42 WDR72 NM_182758.4(WDR72):c.*2671G>C SNV Uncertain significance 887465 GRCh37: 15:53807225-53807225
GRCh38: 15:53515028-53515028
43 WDR72 NM_182758.4(WDR72):c.*3459C>T SNV Uncertain significance 887583 GRCh37: 15:53806437-53806437
GRCh38: 15:53514240-53514240
44 WDR72 NM_182758.4(WDR72):c.*3334A>G SNV Uncertain significance 887584 GRCh37: 15:53806562-53806562
GRCh38: 15:53514365-53514365
45 WDR72 NM_182758.4(WDR72):c.*2650T>C SNV Uncertain significance 887647 GRCh37: 15:53807246-53807246
GRCh38: 15:53515049-53515049
46 WDR72 NM_182758.4(WDR72):c.*2648C>T SNV Uncertain significance 887648 GRCh37: 15:53807248-53807248
GRCh38: 15:53515051-53515051
47 WDR72 NM_182758.4(WDR72):c.*2642T>C SNV Uncertain significance 887649 GRCh37: 15:53807254-53807254
GRCh38: 15:53515057-53515057
48 WDR72 NM_182758.4(WDR72):c.*2137T>G SNV Uncertain significance 887705 GRCh37: 15:53807759-53807759
GRCh38: 15:53515562-53515562
49 WDR72 NM_182758.4(WDR72):c.153+1G>C SNV Uncertain significance 631738 rs368092923 GRCh37: 15:54025193-54025193
GRCh38: 15:53732996-53732996
50 WDR72 NM_182758.4(WDR72):c.*1583T>C SNV Uncertain significance 316549 rs886051292 GRCh37: 15:53808313-53808313
GRCh38: 15:53516116-53516116

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....