STHAG4
MCID: TTH013
MIFTS: 27

Tooth Agenesis, Selective, 4 (STHAG4)

Categories: Genetic diseases, Oral diseases

Aliases & Classifications for Tooth Agenesis, Selective, 4

MalaCards integrated aliases for Tooth Agenesis, Selective, 4:

Name: Tooth Agenesis, Selective, 4 57 72 29 13 6 70
Tooth Agenesis, Selective, 4, with or Without Ectodermal Dysplasia 57 72
Sthag4 57 72
Lateral Incisors, Pegged or Missing 57
Pegged or Missing Lateral Incisors 72
Agenesis, Tooth, Selective, Type 4 39
Succedaneous Teeth, Agenesis of 57
Agenesis of Succedaneous Teeth 72
Lateral Incisors, Absence of 57
Absence of Lateral Incisors 72
Selective Tooth Agenesis 4 72

Characteristics:

OMIM®:

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

Miscellaneous:
higher frequency of absent maxillary and mandibular molars with biallelic mutations
some patients with tooth agenesis exhibit mild features of ectodermal dysplasia, including sparse hair, sparse eyebrows, short eyelashes, abnormalities of the nails, and dry skin


HPO:

31
tooth agenesis, selective, 4:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 150400
OMIM Phenotypic Series 57 PS106600
MeSH 44 D000848
UMLS 70 C1835492

Summaries for Tooth Agenesis, Selective, 4

UniProtKB/Swiss-Prot : 72 Tooth agenesis, selective, 4: 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). In STHAG4, the upper lateral incisors are absent or peg- shaped. Some STHAG4 patients manifest mild features of ectodermal dysplasia, including sparse hair, sparse eyebrows, short eyelashes, abnormalities of the nails, sweating anomalies and dry skin. STHAG4 inheritance is autosomal dominant or autosomal recessive.

MalaCards based summary : Tooth Agenesis, Selective, 4, also known as tooth agenesis, selective, 4, with or without ectodermal dysplasia, is related to anodontia of permanent dentition. An important gene associated with Tooth Agenesis, Selective, 4 is WNT10A (Wnt Family Member 10A). Affiliated tissues include skin, and related phenotypes are dry skin and sparse hair

More information from OMIM: 150400 PS106600

Related Diseases for Tooth Agenesis, Selective, 4

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

# Related Disease Score Top Affiliating Genes
1 anodontia of permanent dentition 10.2

Symptoms & Phenotypes for Tooth Agenesis, Selective, 4

Human phenotypes related to Tooth Agenesis, Selective, 4:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 dry skin 31 occasional (7.5%) HP:0000958
2 sparse hair 31 occasional (7.5%) HP:0008070
3 sparse eyebrow 31 occasional (7.5%) HP:0045075
4 short eyelashes 31 occasional (7.5%) HP:0010764
5 reduced number of teeth 31 HP:0009804
6 peg-shaped maxillary lateral incisors 31 HP:0006342

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Hair:
sparse hair (in some patients)

Head And Neck Teeth:
agenesis of variable number of permanent teeth (upper and lower premolars most commonly missing)
small, peg-shaped teeth (in some patients)
conical teeth (in some patients)

Skin Nails Hair Nails:
nail abnormalities (in some patients)

Head And Neck Eyes:
sparse eyebrows (in some patients)
short eyelashes (in some patients)

Skin Nails Hair Skin:
dry skin (in some patients)
abnormal sweating (rare)

Clinical features from OMIM®:

150400 (Updated 20-May-2021)

Drugs & Therapeutics for Tooth Agenesis, Selective, 4

Search Clinical Trials , NIH Clinical Center for Tooth Agenesis, Selective, 4

Genetic Tests for Tooth Agenesis, Selective, 4

Genetic tests related to Tooth Agenesis, Selective, 4:

# Genetic test Affiliating Genes
1 Tooth Agenesis, Selective, 4 29 WNT10A

Anatomical Context for Tooth Agenesis, Selective, 4

MalaCards organs/tissues related to Tooth Agenesis, Selective, 4:

40
Skin

Publications for Tooth Agenesis, Selective, 4

Articles related to Tooth Agenesis, Selective, 4:

(show all 40)
# Title Authors PMID Year
1
WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations. 6 57
24449199 2014
2
WNT10A mutations also associated with agenesis of the maxillary permanent canines, a separate entity. 6 57
24311251 2014
3
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. 57 6
23401279 2013
4
Mutations in WNT10A are present in more than half of isolated hypodontia cases. 57 6
22581971 2012
5
WNT10A and isolated hypodontia. 6 57
21484994 2011
6
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. 6 57
19559398 2009
7
Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia. 6
30569517 2019
8
Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families. 6
30974434 2019
9
Rare and Common Variants Conferring Risk of Tooth Agenesis. 6
29364747 2018
10
WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI). 6
28976000 2018
11
Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype study. 6
28105635 2017
12
Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis. 6
28981473 2017
13
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation. 6
28166811 2017
14
WNT10A coding variants and maxillary lateral incisor agenesis with associated dental anomalies. 6
25545742 2015
15
Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds. 6
25629078 2015
16
Clinical features and WNT10A mutations in seven unrelated cases of Schöpf-Schulz-Passarge syndrome. 6
24902757 2014
17
Dento-maxillo-facial phenotype and implants-based oral rehabilitation in Ectodermal Dysplasia with WNT10A gene mutation: report of a case and literature review. 6
24702986 2014
18
Variability in dentofacial phenotypes in four families with WNT10A mutations. 6
24398796 2014
19
Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations. 6
24458874 2014
20
Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis. 6
23167694 2013
21
Late diagnosis of ectodermal dysplasia syndrome. 6
22670871 2013
22
Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations. 6
23991204 2013
23
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. 6
21143469 2011
24
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 6
20979233 2011
25
Phenotypic variability associated with WNT10A nonsense mutations. 6
20163410 2010
26
WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome. 6
19471313 2009
27
Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. 6
17847007 2007
28
Patterns of missing teeth in a population of oligodontia patients. 57
17695874 2007
29
Splicing in action: assessing disease causing sequence changes. 6
16199547 2005
30
Anodontia of permanent teeth (OMIM # 206780) and pegged/missing maxillary lateral incisors (OMIM # 150400) in the same family. 57
10710232 2000
31
Gene defect in hypodontia: exclusion of MSX1 and MSX2 as candidate genes. 57
7649547 1995
32
Maxillary canine-first premolar transposition, associated dental anomalies and genetic basis. 57
8498708 1993
33
Agenesis of succedaneous teeth: an expression of the homozygous state of the gene for the pegged or missing maxillary lateral incisor trait. 57
3812593 1987
34
Classification and genetics of numeric anomalies of dentition. 57
6362744 1983
35
[Adolph H. Schultz. In memory of the Zurich anthropologist]. 57
783024 1976
36
The genetics of hypodontia. 57
4526369 1974
37
Missing maxillary lateral incisors: a genetic study. 57
5089845 1971
38
On the frequency of the missing and pegshaped maxillary lateral incisor among Finnish students. 57
13381833 1956
39
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. 61
30046887 2018
40
The WNT10A gene in ectodermal dysplasias and selective tooth agenesis. 61
24700731 2014

Variations for Tooth Agenesis, Selective, 4

ClinVar genetic disease variations for Tooth Agenesis, Selective, 4:

6 (show top 50) (show all 147)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WNT10A NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) SNV Pathogenic 4461 rs121908119 GRCh37: 2:219747090-219747090
GRCh38: 2:218882368-218882368
2 WNT10A NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) SNV Pathogenic 4463 rs121908121 GRCh37: 2:219754712-219754712
GRCh38: 2:218889990-218889990
3 WNT10A G95K Variation Pathogenic 36972 GRCh37:
GRCh38:
4 WNT10A NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) SNV Pathogenic 4461 rs121908119 GRCh37: 2:219747090-219747090
GRCh38: 2:218882368-218882368
5 WNT10A NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) SNV Pathogenic 4461 rs121908119 GRCh37: 2:219747090-219747090
GRCh38: 2:218882368-218882368
6 WNT10A NC_000002.12:g.(?_218880976)_(218893291_?)del Deletion Pathogenic 464177 GRCh37: 2:219745698-219758013
GRCh38: 2:218880976-218893291
7 WNT10A NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) SNV Pathogenic 4462 rs121908120 GRCh37: 2:219755011-219755011
GRCh38: 2:218890289-218890289
8 WNT10A NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter) SNV Pathogenic 464181 rs762739726 GRCh37: 2:219754711-219754711
GRCh38: 2:218889989-218889989
9 WNT10A NM_025216.3(WNT10A):c.310C>T (p.Arg104Cys) SNV Pathogenic 532827 rs764658964 GRCh37: 2:219747079-219747079
GRCh38: 2:218882357-218882357
10 WNT10A NM_025216.3(WNT10A):c.311G>A (p.Arg104His) SNV Pathogenic 633837 rs374910216 GRCh37: 2:219747080-219747080
GRCh38: 2:218882358-218882358
11 WNT10A NM_025216.3(WNT10A):c.694del (p.Arg232fs) Deletion Pathogenic 639357 rs1575233692 GRCh37: 2:219755021-219755021
GRCh38: 2:218890299-218890299
12 WNT10A NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr) SNV Pathogenic 265292 rs372993798 GRCh37: 2:219754720-219754720
GRCh38: 2:218889998-218889998
13 WNT10A NM_025216.3(WNT10A):c.949dup (p.Ala317fs) Duplication Pathogenic 661181 rs775990266 GRCh37: 2:219757683-219757684
GRCh38: 2:218892961-218892962
14 WNT10A NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter) SNV Pathogenic 265293 rs886039453 GRCh37: 2:219755071-219755071
GRCh38: 2:218890349-218890349
15 WNT10A NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) SNV Pathogenic 4463 rs121908121 GRCh37: 2:219754712-219754712
GRCh38: 2:218889990-218889990
16 WNT10A NM_025216.3(WNT10A):c.814C>T (p.Gln272Ter) SNV Pathogenic 841749 GRCh37: 2:219757553-219757553
GRCh38: 2:218892831-218892831
17 WNT10A NM_025216.3(WNT10A):c.717del (p.His239fs) Deletion Pathogenic 841780 GRCh37: 2:219755046-219755046
GRCh38: 2:218890324-218890324
18 WNT10A NM_025216.3(WNT10A):c.909_916del (p.His303fs) Deletion Pathogenic 844473 GRCh37: 2:219757643-219757650
GRCh38: 2:218892921-218892928
19 WNT10A NM_025216.3(WNT10A):c.311G>A (p.Arg104His) SNV Pathogenic 633837 rs374910216 GRCh37: 2:219747080-219747080
GRCh38: 2:218882358-218882358
20 WNT10A NM_025216.3(WNT10A):c.664G>T (p.Glu222Ter) SNV Pathogenic 935681 GRCh37: 2:219754993-219754993
GRCh38: 2:218890271-218890271
21 WNT10A NM_025216.3(WNT10A):c.376+1G>A SNV Pathogenic 936775 GRCh37: 2:219747146-219747146
GRCh38: 2:218882424-218882424
22 WNT10A NM_025216.3(WNT10A):c.632G>A (p.Trp211Ter) SNV Pathogenic 942039 GRCh37: 2:219754961-219754961
GRCh38: 2:218890239-218890239
23 WNT10A NM_025216.3(WNT10A):c.830G>A (p.Trp277Ter) SNV Pathogenic 955942 GRCh37: 2:219757569-219757569
GRCh38: 2:218892847-218892847
24 WNT10A NM_025216.3(WNT10A):c.1168G>T (p.Glu390Ter) SNV Pathogenic 378862 rs750260671 GRCh37: 2:219757907-219757907
GRCh38: 2:218893185-218893185
25 WNT10A NM_025216.3(WNT10A):c.1165_1178delinsTTCCAGCACAACATC (p.Ser389fs) Indel Pathogenic 966598 GRCh37: 2:219757904-219757917
GRCh38: 2:218893182-218893195
26 WNT10A NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter) SNV Likely pathogenic 464181 rs762739726 GRCh37: 2:219754711-219754711
GRCh38: 2:218889989-218889989
27 WNT10A NM_025216.3(WNT10A):c.337C>T (p.Arg113Cys) SNV Likely pathogenic 372548 rs141074983 GRCh37: 2:219747106-219747106
GRCh38: 2:218882384-218882384
28 WNT10A NM_025216.3(WNT10A):c.1079G>C (p.Arg360Pro) SNV Likely pathogenic 862602 GRCh37: 2:219757818-219757818
GRCh38: 2:218893096-218893096
29 WNT10A NM_025216.3(WNT10A):c.616C>T (p.Gln206Ter) SNV Likely pathogenic 417898 rs1060499588 GRCh37: 2:219754945-219754945
GRCh38: 2:218890223-218890223
30 WNT10A NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) SNV Conflicting interpretations of pathogenicity 225515 rs116998555 GRCh37: 2:219754840-219754840
GRCh38: 2:218890118-218890118
31 WNT10A NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) SNV Conflicting interpretations of pathogenicity 139576 rs147680216 GRCh37: 2:219754966-219754966
GRCh38: 2:218890244-218890244
32 WNT10A NM_025216.3(WNT10A):c.433G>A (p.Val145Met) SNV Uncertain significance 464182 rs543063101 GRCh37: 2:219754762-219754762
GRCh38: 2:218890040-218890040
33 WNT10A NM_025216.3(WNT10A):c.667C>T (p.Arg223Cys) SNV Uncertain significance 373902 rs149245953 GRCh37: 2:219754996-219754996
GRCh38: 2:218890274-218890274
34 WNT10A NM_025216.3(WNT10A):c.*115C>T SNV Uncertain significance 334418 rs886055646 GRCh37: 2:219758108-219758108
GRCh38: 2:218893386-218893386
35 WNT10A NM_025216.3(WNT10A):c.498C>T (p.Asp166=) SNV Uncertain significance 334400 rs143463683 GRCh37: 2:219754827-219754827
GRCh38: 2:218890105-218890105
36 WNT10A NM_025216.3(WNT10A):c.149C>T (p.Pro50Leu) SNV Uncertain significance 334393 rs199980023 GRCh37: 2:219746918-219746918
GRCh38: 2:218882196-218882196
37 WNT10A NM_025216.3(WNT10A):c.315G>C (p.Trp105Cys) SNV Uncertain significance 334395 rs886055642 GRCh37: 2:219747084-219747084
GRCh38: 2:218882362-218882362
38 WNT10A NM_025216.3(WNT10A):c.756+14C>T SNV Uncertain significance 334404 rs200733269 GRCh37: 2:219755099-219755099
GRCh38: 2:218890377-218890377
39 WNT10A NM_025216.3(WNT10A):c.551G>A (p.Arg184His) SNV Uncertain significance 334401 rs372756514 GRCh37: 2:219754880-219754880
GRCh38: 2:218890158-218890158
40 WNT10A NM_025216.3(WNT10A):c.1134C>T (p.Gly378=) SNV Uncertain significance 334415 rs886055644 GRCh37: 2:219757873-219757873
GRCh38: 2:218893151-218893151
41 WNT10A NM_025216.3(WNT10A):c.1049C>T (p.Pro350Leu) SNV Uncertain significance 334412 rs564146190 GRCh37: 2:219757788-219757788
GRCh38: 2:218893066-218893066
42 WNT10A NM_025216.3(WNT10A):c.1061C>T (p.Ser354Leu) SNV Uncertain significance 334413 rs781178898 GRCh37: 2:219757800-219757800
GRCh38: 2:218893078-218893078
43 WNT10A NM_025216.3(WNT10A):c.349C>T (p.Pro117Ser) SNV Uncertain significance 334396 rs144212422 GRCh37: 2:219747118-219747118
GRCh38: 2:218882396-218882396
44 WNT10A NM_025216.3(WNT10A):c.652A>G (p.Met218Val) SNV Uncertain significance 334402 rs373991357 GRCh37: 2:219754981-219754981
GRCh38: 2:218890259-218890259
45 WNT10A NM_025216.3(WNT10A):c.1087A>C (p.Asn363His) SNV Uncertain significance 334414 rs34972707 GRCh37: 2:219757826-219757826
GRCh38: 2:218893104-218893104
46 WNT10A NM_025216.3(WNT10A):c.437C>G (p.Ser146Cys) SNV Uncertain significance 334398 rs759718991 GRCh37: 2:219754766-219754766
GRCh38: 2:218890044-218890044
47 WNT10A NM_025216.3(WNT10A):c.*108G>A SNV Uncertain significance 334417 rs190527122 GRCh37: 2:219758101-219758101
GRCh38: 2:218893379-218893379
48 WNT10A NM_025216.3(WNT10A):c.756+13C>A SNV Uncertain significance 334403 rs745958462 GRCh37: 2:219755098-219755098
GRCh38: 2:218890376-218890376
49 WNT10A NM_025216.3(WNT10A):c.838A>T (p.Thr280Ser) SNV Uncertain significance 334406 rs886055643 GRCh37: 2:219757577-219757577
GRCh38: 2:218892855-218892855
50 WNT10A NM_025216.3(WNT10A):c.*441C>T SNV Uncertain significance 334423 rs886055647 GRCh37: 2:219758434-219758434
GRCh38: 2:218893712-218893712

UniProtKB/Swiss-Prot genetic disease variations for Tooth Agenesis, Selective, 4:

72
# Symbol AA change Variation ID SNP ID
1 WNT10A p.Arg128Gln VAR_062510 rs121908121
2 WNT10A p.Phe228Ile VAR_062511 rs121908120
3 WNT10A p.Glu95Lys VAR_069171 rs318240759
4 WNT10A p.Trp277Cys VAR_069174 rs123422764

Expression for Tooth Agenesis, Selective, 4

Search GEO for disease gene expression data for Tooth Agenesis, Selective, 4.

Pathways for Tooth Agenesis, Selective, 4

GO Terms for Tooth Agenesis, Selective, 4

Sources for Tooth Agenesis, Selective, 4

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....