AI2A2
MCID: AML014
MIFTS: 32

Amelogenesis Imperfecta, Hypomaturation Type, Iia2 (AI2A2)

Categories: Genetic diseases, Oral diseases

Aliases & Classifications for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

MalaCards integrated aliases for Amelogenesis Imperfecta, Hypomaturation Type, Iia2:

Name: Amelogenesis Imperfecta, Hypomaturation Type, Iia2 57 29 6 39 70
Amelogenesis Imperfecta, Type Iia2 57 29 13
Ai2a2 57 12 72
Amelogenesis Imperfecta Pigmented Hypomaturation Type 2 12 72
Amelogenesis Imperfecta Hypomaturation Type 2a2 12 15
Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 2 57
Amelogenesis Imperfecta, Hypomaturation Type, 2a2 72
Amelogenesis Imperfecta Hypomaturation Type Iia2 12
Amelogenesis Imperfecta 2 Hypocalcification Type 72
Amelogenesis Imperfecta Type Iia2 12

Characteristics:

OMIM®:

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


HPO:

31
amelogenesis imperfecta, hypomaturation type, iia2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110060
OMIM® 57 612529
OMIM Phenotypic Series 57 PS104500
MeSH 44 D000567
ICD10 32 K00.5
MedGen 41 C2675858
SNOMED-CT via HPO 68 258211005 78494001
UMLS 70 C2675858

Summaries for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

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, 1988). (612529) (Updated 20-May-2021)

MalaCards based summary : Amelogenesis Imperfecta, Hypomaturation Type, Iia2, also known as amelogenesis imperfecta, type iia2, is related to amelogenesis imperfecta, type iv and amelogenesis imperfecta, hypomaturation type, iia1. An important gene associated with Amelogenesis Imperfecta, Hypomaturation Type, Iia2 is MMP20 (Matrix Metallopeptidase 20). Related phenotypes are anterior open-bite malocclusion and amelogenesis imperfecta

Disease Ontology : 12 An amelogenesis imperfecta that has material basis in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20).

UniProtKB/Swiss-Prot : 72 Amelogenesis imperfecta, hypomaturation type, 2A2: 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, Iia2

Graphical network of the top 20 diseases related to Amelogenesis Imperfecta, Hypomaturation Type, Iia2:



Diseases related to Amelogenesis Imperfecta, Hypomaturation Type, Iia2

Symptoms & Phenotypes for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

Human phenotypes related to Amelogenesis Imperfecta, Hypomaturation Type, Iia2:

31
# Description HPO Frequency HPO Source Accession
1 anterior open-bite malocclusion 31 occasional (7.5%) HP:0009102
2 amelogenesis imperfecta 31 HP:0000705

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Teeth:
rough tooth surface
amelogenesis imperfecta, hypomaturation type
yellowish-brown enamel
thin enamel layer
anterior open bite (in some patients)
more

Clinical features from OMIM®:

612529 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Amelogenesis Imperfecta, Hypomaturation Type, Iia2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.8 AMTN MMP20 WDR72

Drugs & Therapeutics for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

Genetic Tests for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

Genetic tests related to Amelogenesis Imperfecta, Hypomaturation Type, Iia2:

# Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Hypomaturation Type, Iia2 29 MMP20
2 Amelogenesis Imperfecta, Type Iia2 29

Anatomical Context for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

Publications for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

Articles related to Amelogenesis Imperfecta, Hypomaturation Type, Iia2:

# Title Authors PMID Year
1
Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing. 6 57
23355523 2013
2
Premature stop codon in MMP20 causing amelogenesis imperfecta. 6 57
18096894 2008
3
MMP20 active-site mutation in hypomaturation amelogenesis imperfecta. 57 6
16246936 2005
4
MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. 57 6
15744043 2005
5
Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta. 6
28473773 2017
6
Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta. 6
28659819 2017
7
Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta. 6
23625376 2013
8
Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. 57
15235027 2004
9
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. 57
3150442 1988
10
Dental malformations associated with biallelic MMP20 mutations. 61
32495503 2020

Variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

ClinVar genetic disease variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia2:

6 (show top 50) (show all 66)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MMP20 NM_004771.4(MMP20):c.611A>G (p.His204Arg) SNV Pathogenic 189295 rs786204826 GRCh37: 11:102480674-102480674
GRCh38: 11:102609943-102609943
2 MMP20 NM_004771.4(MMP20):c.520G>T (p.Gly174Ter) SNV Pathogenic 1032935 GRCh37: 11:102482489-102482489
GRCh38: 11:102611758-102611758
3 MMP20 NM_004771.4(MMP20):c.72del (p.Ser25fs) Deletion Pathogenic 1032936 GRCh37: 11:102495979-102495979
GRCh38: 11:102625248-102625248
4 MMP20 NM_004771.4(MMP20):c.809_811+12delinsCCAG Indel Pathogenic 917993 GRCh37: 11:102479656-102479670
GRCh38: 11:102608925-102608939
5 MMP20 NM_004771.4(MMP20):c.1122A>C (p.Gln374His) SNV Pathogenic 917992 GRCh37: 11:102464295-102464295
GRCh38: 11:102593564-102593564
6 MMP20 NM_004771.4(MMP20):c.710C>A (p.Ser237Tyr) SNV Pathogenic 917991 GRCh37: 11:102479769-102479769
GRCh38: 11:102609038-102609038
7 MMP20 NM_004771.4(MMP20):c.625G>C (p.Glu209Gln) SNV Pathogenic 917990 rs199788797 GRCh37: 11:102480660-102480660
GRCh38: 11:102609929-102609929
8 MMP20 NM_004771.4(MMP20):c.446G>A (p.Trp149Ter) SNV Pathogenic 997531 GRCh37: 11:102482563-102482563
GRCh38: 11:102611832-102611832
9 MMP20 NM_004771.4(MMP20):c.102G>A (p.Trp34Ter) SNV Pathogenic 139625 rs587777516 GRCh37: 11:102495949-102495949
GRCh38: 11:102625218-102625218
10 MMP20 NM_004771.4(MMP20):c.678T>A (p.His226Gln) SNV Pathogenic 139624 rs587777515 GRCh37: 11:102479801-102479801
GRCh38: 11:102609070-102609070
11 MMP20 NM_004771.4(MMP20):c.389C>T (p.Thr130Ile) SNV Likely pathogenic 631643 rs61730849 GRCh37: 11:102482620-102482620
GRCh38: 11:102611889-102611889
12 MMP20 NM_004771.4(MMP20):c.954-2A>T SNV Conflicting interpretations of pathogenicity 5428 rs140213840 GRCh37: 11:102465490-102465490
GRCh38: 11:102594759-102594759
13 MMP20 NM_004771.4(MMP20):c.*268T>C SNV Uncertain significance 880331 GRCh37: 11:102447789-102447789
GRCh38: 11:102577058-102577058
14 MMP20 NM_004771.4(MMP20):c.*299G>A SNV Uncertain significance 880330 GRCh37: 11:102447758-102447758
GRCh38: 11:102577027-102577027
15 MMP20 NM_004771.4(MMP20):c.*412G>A SNV Uncertain significance 880329 GRCh37: 11:102447645-102447645
GRCh38: 11:102576914-102576914
16 MMP20 NM_004771.4(MMP20):c.*427A>T SNV Uncertain significance 880328 GRCh37: 11:102447630-102447630
GRCh38: 11:102576899-102576899
17 MMP20 NM_004771.4(MMP20):c.*481A>G SNV Uncertain significance 880327 GRCh37: 11:102447576-102447576
GRCh38: 11:102576845-102576845
18 MMP20 NM_004771.4(MMP20):c.67G>A (p.Ala23Thr) SNV Uncertain significance 878618 GRCh37: 11:102495984-102495984
GRCh38: 11:102625253-102625253
19 MMP20 NM_004771.4(MMP20):c.103A>C (p.Arg35=) SNV Uncertain significance 878617 GRCh37: 11:102495948-102495948
GRCh38: 11:102625217-102625217
20 MMP20 NM_004771.4(MMP20):c.1053C>T (p.Tyr351=) SNV Uncertain significance 878577 GRCh37: 11:102465389-102465389
GRCh38: 11:102594658-102594658
21 MMP20 NM_004771.4(MMP20):c.1108A>G (p.Thr370Ala) SNV Uncertain significance 878576 GRCh37: 11:102464309-102464309
GRCh38: 11:102593578-102593578
22 MMP20 NM_004771.4(MMP20):c.1287A>G (p.Pro429=) SNV Uncertain significance 878575 GRCh37: 11:102449834-102449834
GRCh38: 11:102579103-102579103
23 MMP20 NM_004771.4(MMP20):c.870A>T (p.Pro290=) SNV Uncertain significance 781031 rs17098831 GRCh37: 11:102477349-102477349
GRCh38: 11:102606618-102606618
24 MMP20 NM_004771.4(MMP20):c.383A>C (p.Lys128Thr) SNV Uncertain significance 301952 rs61753771 GRCh37: 11:102482626-102482626
GRCh38: 11:102611895-102611895
25 MMP20 NM_004771.4(MMP20):c.289A>T (p.Lys97Ter) SNV Uncertain significance 301954 rs367552668 GRCh37: 11:102487628-102487628
GRCh38: 11:102616897-102616897
26 MMP20 NM_004771.4(MMP20):c.910G>A (p.Ala304Thr) SNV Uncertain significance 301942 rs148818720 GRCh37: 11:102477309-102477309
GRCh38: 11:102606578-102606578
27 MMP20 NM_004771.4(MMP20):c.757C>T (p.Pro253Ser) SNV Uncertain significance 301946 rs138853084 GRCh37: 11:102479722-102479722
GRCh38: 11:102608991-102608991
28 MMP20 NM_004771.4(MMP20):c.1422G>A (p.Val474=) SNV Uncertain significance 301934 rs373697258 GRCh37: 11:102448087-102448087
GRCh38: 11:102577356-102577356
29 MMP20 NM_004771.4(MMP20):c.644C>T (p.Thr215Met) SNV Uncertain significance 880370 GRCh37: 11:102480641-102480641
GRCh38: 11:102609910-102609910
30 MMP20 NM_004771.4(MMP20):c.667G>A (p.Val223Ile) SNV Uncertain significance 880369 GRCh37: 11:102479812-102479812
GRCh38: 11:102609081-102609081
31 MMP20 NM_004771.4(MMP20):c.723A>G (p.Ser241=) SNV Uncertain significance 301947 rs139717539 GRCh37: 11:102479756-102479756
GRCh38: 11:102609025-102609025
32 MMP20 NM_004771.4(MMP20):c.883C>G (p.Leu295Val) SNV Uncertain significance 301943 rs146876571 GRCh37: 11:102477336-102477336
GRCh38: 11:102606605-102606605
33 MMP20 NM_004771.4(MMP20):c.*110A>T SNV Uncertain significance 301932 rs886047544 GRCh37: 11:102447947-102447947
GRCh38: 11:102577216-102577216
34 MMP20 NM_004771.4(MMP20):c.1247+8T>C SNV Uncertain significance 301935 rs886047545 GRCh37: 11:102464162-102464162
GRCh38: 11:102593431-102593431
35 MMP20 NM_004771.4(MMP20):c.454G>A (p.Ala152Thr) SNV Uncertain significance 301950 rs370166894 GRCh37: 11:102482555-102482555
GRCh38: 11:102611824-102611824
36 MMP20 NM_004771.4(MMP20):c.375-11C>T SNV Uncertain significance 301953 rs538004005 GRCh37: 11:102482645-102482645
GRCh38: 11:102611914-102611914
37 MMP20 NM_004771.4(MMP20):c.254G>A (p.Gly85Glu) SNV Uncertain significance 301956 rs200482846 GRCh37: 11:102487663-102487663
GRCh38: 11:102616932-102616932
38 MMP20 NM_004771.4(MMP20):c.808T>C (p.Tyr270His) SNV Uncertain significance 301945 rs778890652 GRCh37: 11:102479671-102479671
GRCh38: 11:102608940-102608940
39 MMP20 NM_004771.4(MMP20):c.666C>T (p.Thr222=) SNV Uncertain significance 301948 rs763757159 GRCh37: 11:102479813-102479813
GRCh38: 11:102609082-102609082
40 MMP20 NM_004771.4(MMP20):c.*484T>C SNV Uncertain significance 301930 rs531522695 GRCh37: 11:102447573-102447573
GRCh38: 11:102576842-102576842
41 MMP20 NM_004771.4(MMP20):c.1430C>G (p.Ser477Cys) SNV Uncertain significance 301933 rs766621123 GRCh37: 11:102448079-102448079
GRCh38: 11:102577348-102577348
42 MMP20 NM_004771.4(MMP20):c.1219C>T (p.Leu407Phe) SNV Uncertain significance 301936 rs150191942 GRCh37: 11:102464198-102464198
GRCh38: 11:102593467-102593467
43 MMP20 NM_004771.4(MMP20):c.92C>T (p.Pro31Leu) SNV Uncertain significance 301957 rs61730847 GRCh37: 11:102495959-102495959
GRCh38: 11:102625228-102625228
44 MMP20 NM_004771.4(MMP20):c.1424T>C (p.Val475Ala) SNV Uncertain significance 877551 GRCh37: 11:102448085-102448085
GRCh38: 11:102577354-102577354
45 MMP20 NM_004771.4(MMP20):c.1418G>A (p.Ser473Asn) SNV Uncertain significance 877552 GRCh37: 11:102448091-102448091
GRCh38: 11:102577360-102577360
46 MMP20 NM_004771.4(MMP20):c.1366T>C (p.Phe456Leu) SNV Uncertain significance 877553 GRCh37: 11:102448143-102448143
GRCh38: 11:102577412-102577412
47 MMP20 NM_004771.4(MMP20):c.1296T>C (p.Thr432=) SNV Uncertain significance 877554 GRCh37: 11:102449825-102449825
GRCh38: 11:102579094-102579094
48 MMP20 NM_004771.4(MMP20):c.375-10G>A SNV Uncertain significance 877602 GRCh37: 11:102482644-102482644
GRCh38: 11:102611913-102611913
49 MMP20 NM_004771.4(MMP20):c.372C>T (p.Tyr124=) SNV Uncertain significance 877603 GRCh37: 11:102487545-102487545
GRCh38: 11:102616814-102616814
50 MMP20 NM_004771.4(MMP20):c.183T>C (p.Val61=) SNV Uncertain significance 877604 GRCh37: 11:102487734-102487734
GRCh38: 11:102617003-102617003

Expression for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

Search GEO for disease gene expression data for Amelogenesis Imperfecta, Hypomaturation Type, Iia2.

Pathways for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

GO Terms for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

Cellular components related to Amelogenesis Imperfecta, Hypomaturation Type, Iia2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.62 MMP20 AMTN

Biological processes related to Amelogenesis Imperfecta, Hypomaturation Type, Iia2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix disassembly GO:0022617 9.26 WDR72 MMP20
2 biomineral tissue development GO:0031214 9.16 WDR72 AMTN
3 positive regulation of biomineral tissue development GO:0070169 8.96 ODAPH AMTN
4 positive regulation of enamel mineralization GO:0070175 8.62 ODAPH AMTN

Sources for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

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
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