STHAG1
MCID: TTH010
MIFTS: 30

Tooth Agenesis, Selective, 1 (STHAG1)

Categories: Genetic diseases, Oral diseases

Aliases & Classifications for Tooth Agenesis, Selective, 1

MalaCards integrated aliases for Tooth Agenesis, Selective, 1:

Name: Tooth Agenesis, Selective, 1 57 72
Selective Tooth Agenesis 1 72 29 6
Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft 57 13
Hypodontia/oligodontia 1 57 72
Tooth Agenesis, Familial 57 6
Sthag1 57 72
Hyd1 57 72
Agenesis, Tooth, Selective, with or Without Orofacial Cleft, Type 1 39
Second Premolars and Third Molars, Absence of 57
Selective Tooth Agenesis with Orofacial Cleft 72
Absence of Second Premolars and Third Molars 72
Hypodontia/oligodontia with Orofacial Cleft 72
Hypodontia/oligodontia 1; Hyd1 57
Familial Tooth Agenesis 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
tooth agenesis, selective, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 106600
OMIM Phenotypic Series 57 PS106600
MeSH 44 D000848
SNOMED-CT via HPO 68 263681008 64969001

Summaries for Tooth Agenesis, Selective, 1

OMIM® : 57 Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see 114600 and 302400. 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). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978). (106600) (Updated 05-Apr-2021)

MalaCards based summary : Tooth Agenesis, Selective, 1, also known as selective tooth agenesis 1, is related to tooth agenesis and myeloma, multiple. An important gene associated with Tooth Agenesis, Selective, 1 is MSX1 (Msh Homeobox 1), and among its related pathways/superpathways is Wnt / Hedgehog / Notch. Related phenotype is hypodontia.

UniProtKB/Swiss-Prot : 72 Tooth agenesis, selective, 1: 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). STHAG1 can be associated with orofacial cleft in some patients.

Related Diseases for Tooth Agenesis, Selective, 1

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, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 tooth agenesis 31.0 PAX9 MSX1 EDA
2 myeloma, multiple 10.1
3 severe combined immunodeficiency 10.0
4 tooth agenesis, selective, 3 9.9
5 oligodontia-colorectal cancer syndrome 9.9
6 ectodermal dysplasia 9.9 MSX1 EDA
7 ectodermal dysplasia 10b 9.8 PAX9 EDA
8 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 9.8 PAX9 EDA
9 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 9.8 PAX9 EDA
10 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 9.8 PAX9 EDA
11 tooth size 9.7 PAX9 MSX1
12 witkop syndrome 9.7 PAX9 MSX1
13 ankyloglossia with or without tooth anomalies 9.7 PAX9 MSX1
14 van der woude syndrome 1 9.7 PAX9 MSX1
15 lymphoid interstitial pneumonia 9.7 PAX9 MSX1
16 waardenburg's syndrome 9.7 PAX9 MSX1
17 physical disorder 9.7 PAX9 MSX1
18 cleft lip 9.6 PAX9 MSX1
19 orofacial cleft 9.6 PAX9 MSX1
20 holoprosencephaly 9.6 PAX9 MSX1
21 cleft palate, isolated 9.5 PAX9 MSX1
22 anodontia 9.5 PAX9 MSX1 EDA
23 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.5 PAX9 MSX1 EDA
24 tooth disease 9.4 PAX9 MSX1

Graphical network of the top 20 diseases related to Tooth Agenesis, Selective, 1:



Diseases related to Tooth Agenesis, Selective, 1

Symptoms & Phenotypes for Tooth Agenesis, Selective, 1

Human phenotypes related to Tooth Agenesis, Selective, 1:

31
# Description HPO Frequency HPO Source Accession
1 hypodontia 31 HP:0000668

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Teeth:
hypodontia

Clinical features from OMIM®:

106600 (Updated 05-Apr-2021)

Drugs & Therapeutics for Tooth Agenesis, Selective, 1

Search Clinical Trials , NIH Clinical Center for Tooth Agenesis, Selective, 1

Genetic Tests for Tooth Agenesis, Selective, 1

Genetic tests related to Tooth Agenesis, Selective, 1:

# Genetic test Affiliating Genes
1 Selective Tooth Agenesis 1 29 MSX1

Anatomical Context for Tooth Agenesis, Selective, 1

Publications for Tooth Agenesis, Selective, 1

Articles related to Tooth Agenesis, Selective, 1:

(show all 17)
# Title Authors PMID Year
1
Mutations in WNT10A are present in more than half of isolated hypodontia cases. 6 57
22581971 2012
2
Novel MSX1 frameshift causes autosomal-dominant oligodontia. 6 57
16498076 2006
3
A novel MSX1 mutation in hypodontia. 6 57
15264286 2004
4
The role of MSX1 in human tooth agenesis. 6 57
12097313 2002
5
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. 57 6
10742093 2000
6
A human MSX1 homeodomain missense mutation causes selective tooth agenesis. 6 57
8696335 1996
7
A novel G to A transition at initiation codon and exon-intron boundary of PAX9 identified in association with familial isolated oligodontia. 6
28847717 2017
8
Mutations in WNT10B Are Identified in Individuals with Oligodontia. 57
27321946 2016
9
A novel initiation codon mutation of PAX9 in a family with oligodontia. 6
26571067 2016
10
A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia. 6
24914010 2014
11
Oligodontia and curly hair occur with ectodysplasin-a mutations. 6
24487376 2014
12
Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis. 6
19623212 2010
13
EDA gene mutations underlie non-syndromic oligodontia. 6
19278982 2009
14
Novel mutation of the initiation codon of PAX9 causes oligodontia. 6
15615874 2005
15
Haploinsufficiency of MSX1: a mechanism for selective tooth agenesis. 6
9742121 1998
16
A pedigree of partial anodontia. 57
18137065 1949
17
The molecular genetics of selective tooth agenesis. 61
33341851 2020

Variations for Tooth Agenesis, Selective, 1

ClinVar genetic disease variations for Tooth Agenesis, Selective, 1:

6 (show all 26)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MSX1 NM_002448.3(MSX1):c.605G>C (p.Arg202Pro) SNV Pathogenic 14879 rs121913129 GRCh37: 4:4864563-4864563
GRCh38: 4:4862836-4862836
2 MSX1 NM_002448.3(MSX1):c.332C>A (p.Ser111Ter) SNV Pathogenic 14880 rs104893852 GRCh37: 4:4861958-4861958
GRCh38: 4:4860231-4860231
3 MSX1 NM_002448.3(MSX1):c.577C>T (p.Gln193Ter) SNV Pathogenic 14881 rs104893850 GRCh37: 4:4864535-4864535
GRCh38: 4:4862808-4862808
4 MSX1 NM_002448.3(MSX1):c.200T>A (p.Met67Lys) SNV Pathogenic 14886 rs121913130 GRCh37: 4:4861826-4861826
GRCh38: 4:4860099-4860099
5 MSX1 NM_002448.3(MSX1):c.81dup (p.Gly28fs) Duplication Pathogenic 14887 rs1553877821 GRCh37: 4:4861706-4861707
GRCh38: 4:4859979-4859980
6 MSX1 NM_002448.3(MSX1):c.910_911dup (p.Ter304TyrextTer?) Duplication Pathogenic 127273 rs515726227 GRCh37: 4:4864866-4864867
GRCh38: 4:4863139-4863140
7 PAX9 NM_006194.3(PAX9):c.180C>A (p.Tyr60Ter) SNV Pathogenic 526772 rs1555316704 GRCh37: 14:37132277-37132277
GRCh38: 14:36663072-36663072
8 PAX9 NM_006194.3(PAX9):c.2T>A (p.Met1Lys) SNV Likely pathogenic 649310 rs1594465933 GRCh37: 14:37131296-37131296
GRCh38: 14:36662091-36662091
9 EDA NM_001399.5(EDA):c.1094T>C (p.Val365Ala) SNV Likely pathogenic 44185 rs397516654 GRCh37: X:69255377-69255377
GRCh38: X:70035527-70035527
10 EDA NM_001399.5(EDA):c.866G>A (p.Arg289His) SNV Likely pathogenic 228257 rs876657641 GRCh37: X:69253320-69253320
GRCh38: X:70033470-70033470
11 PAX9 NM_001372076.1(PAX9):c.959C>T (p.Ser320Leu) SNV Uncertain significance 1037706 GRCh37: 14:37145590-37145590
GRCh38: 14:36676385-36676385
12 PAX9 NM_001372076.1(PAX9):c.290T>A (p.Ile97Asn) SNV Uncertain significance 1009882 GRCh37: 14:37132387-37132387
GRCh38: 14:36663182-36663182
13 PAX9 NC_000014.8:g.(?_37145383)_(37145677_?)del Deletion Uncertain significance 1003958 GRCh37: 14:37145383-37145677
GRCh38:
14 PAX9 NM_001372076.1(PAX9):c.930G>C (p.Leu310Phe) SNV Uncertain significance 858946 GRCh37: 14:37145561-37145561
GRCh38: 14:36676356-36676356
15 PAX9 NM_001372076.1(PAX9):c.346A>T (p.Asn116Tyr) SNV Uncertain significance 950714 GRCh37: 14:37132443-37132443
GRCh38: 14:36663238-36663238
16 PAX9 NM_001372076.1(PAX9):c.99_116del (p.Gln34_Pro39del) Deletion Uncertain significance 955304 GRCh37: 14:37132195-37132212
GRCh38: 14:36662990-36663007
17 PAX9 NM_006194.3(PAX9):c.259A>T (p.Ile87Phe) SNV Uncertain significance 13775 rs104894468 GRCh37: 14:37132356-37132356
GRCh38: 14:36663151-36663151
18 PAX9 NM_006194.3(PAX9):c.697T>C (p.Phe233Leu) SNV Uncertain significance 639634 rs200733091 GRCh37: 14:37135732-37135732
GRCh38: 14:36666527-36666527
19 PAX9 NM_006194.3(PAX9):c.683T>C (p.Leu228Pro) SNV Uncertain significance 660509 rs780494094 GRCh37: 14:37135718-37135718
GRCh38: 14:36666513-36666513
20 PAX9 NM_006194.3(PAX9):c.271A>G (p.Lys91Glu) SNV Uncertain significance 13770 rs28933373 GRCh37: 14:37132368-37132368
GRCh38: 14:36663163-36663163
21 MSX1 NM_002448.3(MSX1):c.471G>T (p.Arg157Ser) SNV Uncertain significance 225414 rs150284621 GRCh37: 4:4864429-4864429
GRCh38: 4:4862702-4862702
22 PAX9 NM_006194.3(PAX9):c.689G>T (p.Arg230Leu) SNV Uncertain significance 572978 rs368787836 GRCh37: 14:37135724-37135724
GRCh38: 14:36666519-36666519
23 PAX9 NM_001372076.1(PAX9):c.774A>T (p.Ala258=) SNV Likely benign 742437 rs750664427 GRCh37: 14:37145405-37145405
GRCh38: 14:36676200-36676200
24 PAX9 NM_006194.3(PAX9):c.511G>A (p.Ala171Thr) SNV Likely benign 313167 rs143020311 GRCh37: 14:37132608-37132608
GRCh38: 14:36663403-36663403
25 PAX9 NM_006194.3(PAX9):c.516G>A (p.Lys172=) SNV Benign 313168 rs61734510 GRCh37: 14:37132613-37132613
GRCh38: 14:36663408-36663408
26 PAX9 NM_006194.3(PAX9):c.623C>G (p.Thr208Ser) SNV Benign 313170 rs116676854 GRCh37: 14:37132720-37132720
GRCh38: 14:36663515-36663515

UniProtKB/Swiss-Prot genetic disease variations for Tooth Agenesis, Selective, 1:

72
# Symbol AA change Variation ID SNP ID
1 MSX1 p.Arg202Pro VAR_003754 rs121913129
2 MSX1 p.Met67Lys VAR_015712 rs121913130

Expression for Tooth Agenesis, Selective, 1

Search GEO for disease gene expression data for Tooth Agenesis, Selective, 1.

Pathways for Tooth Agenesis, Selective, 1

Pathways related to Tooth Agenesis, Selective, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.88 PAX9 MSX1

GO Terms for Tooth Agenesis, Selective, 1

Biological processes related to Tooth Agenesis, Selective, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.5 PAX9 MSX1 EDA
2 odontogenesis of dentin-containing tooth GO:0042475 9.26 MSX1 EDA
3 odontogenesis GO:0042476 9.16 PAX9 MSX1
4 face morphogenesis GO:0060325 8.96 PAX9 MSX1
5 regulation of odontogenesis GO:0042481 8.62 PAX9 MSX1

Molecular functions related to Tooth Agenesis, Selective, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.62 PAX9 MSX1

Sources for Tooth Agenesis, Selective, 1

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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