STHAG3
MCID: TTH012
MIFTS: 25

Tooth Agenesis, Selective, 3 (STHAG3)

Categories: Genetic diseases, Oral diseases

Aliases & Classifications for Tooth Agenesis, Selective, 3

MalaCards integrated aliases for Tooth Agenesis, Selective, 3:

Name: Tooth Agenesis, Selective, 3 57 72 29 13 6 70
Hypodontia/oligodontia 3 57 72
Sthag3 57 72
Agenesis, Tooth, Selective, Type 3 39
Selective Tooth Agenesis 3 72
Hyd3 72

Characteristics:

OMIM®:

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


HPO:

31
tooth agenesis, selective, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 604625
OMIM Phenotypic Series 57 PS106600
MeSH 44 D000848
MedGen 41 C1970291
SNOMED-CT via HPO 68 263681008 32337007
UMLS 70 C1970291

Summaries for Tooth Agenesis, Selective, 3

UniProtKB/Swiss-Prot : 72 Tooth agenesis, selective, 3: A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth).

MalaCards based summary : Tooth Agenesis, Selective, 3, also known as hypodontia/oligodontia 3, is related to tooth agenesis. An important gene associated with Tooth Agenesis, Selective, 3 is PAX9 (Paired Box 9). Related phenotypes are microdontia and oligodontia

More information from OMIM: 604625 PS106600

Related Diseases for Tooth Agenesis, Selective, 3

Diseases in the Tooth Agenesis, Selective, 1 family:

Tooth Agenesis, Selective, 4 Tooth Agenesis, Selective, 2
Tooth Agenesis, Selective, 3 Tooth Agenesis, Selective, 5
Tooth Agenesis, Selective, 7 Tooth Agenesis, Selective, 8
Tooth Agenesis, Selective, 9

Diseases related to Tooth Agenesis, Selective, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 tooth agenesis 9.1 SLC25A21 PAX9 LOC108281111

Symptoms & Phenotypes for Tooth Agenesis, Selective, 3

Human phenotypes related to Tooth Agenesis, Selective, 3:

31
# Description HPO Frequency HPO Source Accession
1 microdontia 31 occasional (7.5%) HP:0000691
2 oligodontia 31 HP:0000677

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Teeth:
small teeth (in some patients)
normal primary dentition (in some patients)
agenesis of 6 or more permanent teeth
missing secondary dentition (including molars, premolars, or mandibular central incisors)

Clinical features from OMIM®:

604625 (Updated 20-May-2021)

Drugs & Therapeutics for Tooth Agenesis, Selective, 3

Search Clinical Trials , NIH Clinical Center for Tooth Agenesis, Selective, 3

Genetic Tests for Tooth Agenesis, Selective, 3

Genetic tests related to Tooth Agenesis, Selective, 3:

# Genetic test Affiliating Genes
1 Tooth Agenesis, Selective, 3 29 PAX9

Anatomical Context for Tooth Agenesis, Selective, 3

Publications for Tooth Agenesis, Selective, 3

Articles related to Tooth Agenesis, Selective, 3:

(show all 41)
# Title Authors PMID Year
1
Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis. 6 57
16479262 2006
2
A novel mutation in PAX9 causes familial form of molar oligodontia. 57 6
16333316 2006
3
A missense mutation in PAX9 in a family with distinct phenotype of oligodontia. 57 6
14571272 2003
4
Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. 57 6
11941488 2002
5
A novel mutation in human PAX9 causes molar oligodontia. 6 57
11827258 2002
6
Mutation of PAX9 is associated with oligodontia. 6 57
10615120 2000
7
Characterization of PAX9 variant P20L identified in a Japanese family with tooth agenesis. 6
29023497 2017
8
Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9. 6
19429910 2009
9
A novel missense mutation in the paired domain of human PAX9 causes oligodontia. 6
17910065 2007
10
Novel MSX1 frameshift causes autosomal-dominant oligodontia. 57
16498076 2006
11
Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia. 57
16236760 2005
12
[Novel mutations of PAX9 gene in Chinese patients with oligodontia]. 6
16191360 2005
13
Novel mutation of the initiation codon of PAX9 causes oligodontia. 6
15615874 2005
14
Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans. 6
14607846 2004
15
A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia. 6
14689302 2004
16
Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia. 6
12786960 2003
17
Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia. 6
12605438 2003
18
Identification of a nonsense mutation in the PAX9 gene in molar oligodontia. 6
11781684 2001
19
Gene defect in hypodontia: exclusion of MSX1 and MSX2 as candidate genes. 57
7649547 1995
20
HYD3, a conidial hydrophobin of the fungal entomopathogen Metarhizium acridum induces the immunity of its specialist host locust. 61
33022346 2020
21
Metarhizium robertsii ammonium permeases (MepC and Mep2) contribute to rhizoplane colonization and modulates the transfer of insect derived nitrogen to plants. 61
31618269 2019
22
Novel Hydrophobin Fusion Tags for Plant-Produced Fusion Proteins. 61
27706254 2016
23
Hydrophobins in the Life Cycle of the Ectomycorrhizal Basidiomycete Tricholoma vaccinum. 61
27936063 2016
24
Isolation of high-quality RNA from grains of different maize varieties. 61
24400636 2014
25
An obligately aerobic soil bacterium activates fermentative hydrogen production to survive reductive stress during hypoxia. 61
25049411 2014
26
Carotenoid biosynthetic and catabolic pathways: gene expression and carotenoid content in grains of maize landraces. 61
24476639 2014
27
Hydrophobins are required for conidial hydrophobicity and plant root colonization in the fungal biocontrol agent Clonostachys rosea. 61
24483277 2014
28
Three different [NiFe] hydrogenases confer metabolic flexibility in the obligate aerobe Mycobacterium smegmatis. 61
24536093 2014
29
Surface functionalization of carbon nanomaterials by self-assembling hydrophobin proteins. 61
23097233 2013
30
Hordeum chilense genome, a useful tool to investigate the endosperm yellow pigment content in the Triticeae. 61
23122232 2012
31
Hydrophobin genes of the entomopathogenic fungus, Metarhizium brunneum, are differentially expressed and corresponding mutants are decreased in virulence. 61
22388867 2012
32
Characterization and cloning of oxygen-tolerant hydrogenase from Klebsiella oxytoca HP1. 61
21187144 2011
33
RNA silencing of hydrogenase(-like) genes and investigation of their physiological roles in the green alga Chlamydomonas reinhardtii. 61
20726841 2010
34
Studies on inhibition of transformation of 2,4,6-trinitrotoluene catalyzed by Fe-only hydrogenase from Clostridium acetobutylicum. 61
16550436 2006
35
Five hydrophobin genes in Fusarium verticillioides include two required for microconidial chain formation. 61
15288021 2004
36
Expression and regulation of a silent operon, hyf, coding for hydrogenase 4 isoenzyme in Escherichia coli. 61
14702328 2004
37
Optimization of the pharmacophore model for 5-HT7R antagonism. Design and synthesis of new naphtholactam and naphthosultam derivatives. 61
14667218 2003
38
Suppression of Escherichia coli formate hydrogenlyase activity by trimethylamine N-oxide is due to drainage of the inducer formate. 61
9274019 1997
39
A pharmacophore for high affinity PAF antagonists. II. Hydrophobicity study using the molecular lipophilicity potential. 61
9172050 1997
40
Involvement of the GroE chaperonins in the nickel-dependent anaerobic biosynthesis of NiFe-hydrogenases of Escherichia coli. 61
8755872 1996
41
Identification of a new gene, molR, essential for utilization of molybdate by Escherichia coli. 61
2156810 1990

Variations for Tooth Agenesis, Selective, 3

ClinVar genetic disease variations for Tooth Agenesis, Selective, 3:

6 (show top 50) (show all 73)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PAX9 PAX9, 1-BP INS, 219G Insertion Pathogenic 13767 GRCh37:
GRCh38:
2 PAX9 NM_006194.3(PAX9):c.340A>T (p.Lys114Ter) SNV Pathogenic 13768 rs104894467 GRCh37: 14:37132437-37132437
GRCh38: 14:36663232-36663232
3 PAX9 PAX9, DEL Deletion Pathogenic 13769 GRCh37:
GRCh38:
4 PAX9 NM_006194.3(PAX9):c.271A>G (p.Lys91Glu) SNV Pathogenic 13770 rs28933373 GRCh37: 14:37132368-37132368
GRCh38: 14:36663163-36663163
5 PAX9 NM_006194.3(PAX9):c.62T>C (p.Leu21Pro) SNV Pathogenic 13771 rs28933970 GRCh37: 14:37132159-37132159
GRCh38: 14:36662954-36662954
6 PAX9 PAX9, 288-BP INS Insertion Pathogenic 13772 GRCh37:
GRCh38:
7 PAX9 NM_006194.3(PAX9):c.83G>C (p.Arg28Pro) SNV Pathogenic 13773 rs28933971 GRCh37: 14:37132180-37132180
GRCh38: 14:36662975-36662975
8 PAX9 NM_006194.3(PAX9):c.76C>T (p.Arg26Trp) SNV Pathogenic 13774 rs28933972 GRCh37: 14:37132173-37132173
GRCh38: 14:36662968-36662968
9 PAX9 NM_006194.3(PAX9):c.259A>T (p.Ile87Phe) SNV Pathogenic 13775 rs104894468 GRCh37: 14:37132356-37132356
GRCh38: 14:36663151-36663151
10 PAX9 NM_006194.3(PAX9):c.792_793insC (p.Val265fs) Insertion Pathogenic 13776 rs1594475481 GRCh37: 14:37145423-37145424
GRCh38: 14:36676218-36676219
11 PAX9 PAX9, 1A-G SNV Pathogenic 13777 GRCh37:
GRCh38:
12 PAX9 PAX9, 3-BP DEL, 24-BP INS, NT619 Indel Pathogenic 13778 GRCh37:
GRCh38:
13 PAX9 NM_006194.3(PAX9):c.151G>A (p.Gly51Ser) SNV Pathogenic 13779 rs104894469 GRCh37: 14:37132248-37132248
GRCh38: 14:36663043-36663043
14 PAX9 PAX9, 1-BP INS, 190G Insertion Pathogenic 13780 GRCh37:
GRCh38:
15 PAX9 NM_006194.3(PAX9):c.139C>T (p.Arg47Trp) SNV Pathogenic 13781 rs121917720 GRCh37: 14:37132236-37132236
GRCh38: 14:36663031-36663031
16 PAX9 NM_006194.3(PAX9):c.336C>G (p.Cys112Trp) SNV Pathogenic 155939 rs587776350 GRCh37: 14:37132433-37132433
GRCh38: 14:36663228-36663228
17 PAX9 NM_006194.3(PAX9):c.59C>T (p.Pro20Leu) SNV Pathogenic 375454 rs1555316697 GRCh37: 14:37132156-37132156
GRCh38: 14:36662951-36662951
18 PAX9 NM_006194.3(PAX9):c.3G>A (p.Met1Ile) SNV Pathogenic 430692 rs1131692057 GRCh37: 14:37131297-37131297
GRCh38: 14:36662092-36662092
19 PAX9 NM_001372076.1(PAX9):c.230G>A (p.Arg77Gln) SNV Likely pathogenic 975792 GRCh37: 14:37132327-37132327
GRCh38: 14:36663122-36663122
20 PAX9 NM_001372076.1(PAX9):c.51C>G (p.Asn17Lys) SNV Likely pathogenic 666317 rs745522921 GRCh37: 14:37132148-37132148
GRCh38: 14:36662943-36662943
21 PAX9 NM_001372076.1(PAX9):c.600C>T (p.Asp200=) SNV Uncertain significance 880671 GRCh37: 14:37132697-37132697
GRCh38: 14:36663492-36663492
22 PAX9 NM_006194.3(PAX9):c.609C>T (p.Gly203=) SNV Uncertain significance 456653 rs61754301 GRCh37: 14:37132706-37132706
GRCh38: 14:36663501-36663501
23 PAX9 NM_001372076.1(PAX9):c.689G>A (p.Arg230His) SNV Uncertain significance 880672 GRCh37: 14:37135724-37135724
GRCh38: 14:36666519-36666519
24 PAX9 NM_006194.3(PAX9):c.-644G>A SNV Uncertain significance 882016 GRCh37: 14:37126855-37126855
GRCh38: 14:36657650-36657650
25 PAX9 NM_001372076.1(PAX9):c.750G>T (p.Glu250Asp) SNV Uncertain significance 882083 GRCh37: 14:37135785-37135785
GRCh38: 14:36666580-36666580
26 PAX9 NM_006194.3(PAX9):c.-244G>T SNV Uncertain significance 313159 rs886050488 GRCh37: 14:37131051-37131051
GRCh38: 14:36661846-36661846
27 PAX9 NM_006194.3(PAX9):c.-119A>T SNV Uncertain significance 313162 rs886050490 GRCh37: 14:37131176-37131176
GRCh38: 14:36661971-36661971
28 PAX9 NM_006194.3(PAX9):c.150C>T (p.His50=) SNV Uncertain significance 313165 rs753143072 GRCh37: 14:37132247-37132247
GRCh38: 14:36663042-36663042
29 PAX9 NM_006194.3(PAX9):c.*263A>G SNV Uncertain significance 313176 rs563894653 GRCh37: 14:37145920-37145920
GRCh38: 14:36676715-36676715
30 LOC108281111 , PAX9 NM_006194.3(PAX9):c.-338C>T SNV Uncertain significance 313157 rs886050487 GRCh37: 14:37130957-37130957
GRCh38: 14:36661752-36661752
31 PAX9 NM_006194.3(PAX9):c.-488C>T SNV Uncertain significance 313154 rs756143266 GRCh37: 14:37127011-37127011
GRCh38: 14:36657806-36657806
32 PAX9 NM_001372076.1(PAX9):c.*59C>G SNV Uncertain significance 882085 GRCh37: 14:37145716-37145716
GRCh38: 14:36676511-36676511
33 PAX9 NM_001372076.1(PAX9):c.*257G>A SNV Uncertain significance 882086 GRCh37: 14:37145914-37145914
GRCh38: 14:36676709-36676709
34 PAX9 NM_001372076.1(PAX9):c.*288C>G SNV Uncertain significance 883233 GRCh37: 14:37145945-37145945
GRCh38: 14:36676740-36676740
35 PAX9 NM_001372076.1(PAX9):c.*506A>G SNV Uncertain significance 883234 GRCh37: 14:37146163-37146163
GRCh38: 14:36676958-36676958
36 PAX9 NM_001372076.1(PAX9):c.-67A>G SNV Uncertain significance 883961 GRCh37: 14:37131228-37131228
GRCh38: 14:36662023-36662023
37 PAX9 NM_001372076.1(PAX9):c.192C>T (p.Gly64=) SNV Uncertain significance 883962 GRCh37: 14:37132289-37132289
GRCh38: 14:36663084-36663084
38 PAX9 NM_001372076.1(PAX9):c.323C>T (p.Ala108Val) SNV Uncertain significance 883963 GRCh37: 14:37132420-37132420
GRCh38: 14:36663215-36663215
39 PAX9 NM_001372076.1(PAX9):c.*640T>G SNV Uncertain significance 884030 GRCh37: 14:37146297-37146297
GRCh38: 14:36677092-36677092
40 PAX9 NM_001372076.1(PAX9):c.*663C>T SNV Uncertain significance 884031 GRCh37: 14:37146320-37146320
GRCh38: 14:36677115-36677115
41 PAX9 NM_001372076.1(PAX9):c.*775C>T SNV Uncertain significance 884032 GRCh37: 14:37146432-37146432
GRCh38: 14:36677227-36677227
42 PAX9 NM_001372076.1(PAX9):c.*825T>G SNV Uncertain significance 884033 GRCh37: 14:37146482-37146482
GRCh38: 14:36677277-36677277
43 PAX9 , SLC25A21 NM_001372076.1(PAX9):c.*1066A>C SNV Uncertain significance 884034 GRCh37: 14:37146723-37146723
GRCh38: 14:36677518-36677518
44 PAX9 NM_006194.3(PAX9):c.-65G>A SNV Uncertain significance 313163 rs886050491 GRCh37: 14:37131230-37131230
GRCh38: 14:36662025-36662025
45 PAX9 NM_006194.3(PAX9):c.289A>C (p.Ile97Leu) SNV Uncertain significance 313166 rs886050492 GRCh37: 14:37132386-37132386
GRCh38: 14:36663181-36663181
46 PAX9 NM_006194.3(PAX9):c.524C>T (p.Thr175Met) SNV Uncertain significance 313169 rs370909756 GRCh37: 14:37132621-37132621
GRCh38: 14:36663416-36663416
47 PAX9 NM_006194.3(PAX9):c.*231T>G SNV Uncertain significance 313174 rs541916401 GRCh37: 14:37145888-37145888
GRCh38: 14:36676683-36676683
48 LOC108281111 , PAX9 NM_006194.3(PAX9):c.-321C>A SNV Uncertain significance 313158 rs780901065 GRCh37: 14:37130974-37130974
GRCh38: 14:36661769-36661769
49 PAX9 NM_006194.3(PAX9):c.*328T>A SNV Uncertain significance 313177 rs886050493 GRCh37: 14:37145985-37145985
GRCh38: 14:36676780-36676780
50 PAX9 NM_006194.3(PAX9):c.511G>A (p.Ala171Thr) SNV Uncertain significance 313167 rs143020311 GRCh37: 14:37132608-37132608
GRCh38: 14:36663403-36663403

UniProtKB/Swiss-Prot genetic disease variations for Tooth Agenesis, Selective, 3:

72
# Symbol AA change Variation ID SNP ID
1 PAX9 p.Gly51Ser VAR_015698 rs104894469

Expression for Tooth Agenesis, Selective, 3

Search GEO for disease gene expression data for Tooth Agenesis, Selective, 3.

Pathways for Tooth Agenesis, Selective, 3

GO Terms for Tooth Agenesis, Selective, 3

Sources for Tooth Agenesis, Selective, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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19 FMA
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30 HMDB
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32 ICD10
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44 MeSH
45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
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