STHAG4
MCID: TTH013
MIFTS: 24

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 58 76 30 13 6 74
Tooth Agenesis, Selective, 4, with or Without Ectodermal Dysplasia 58 76
Sthag4 58 76
Lateral Incisors, Pegged or Missing 58
Pegged or Missing Lateral Incisors 76
Agenesis, Tooth, Selective, Type 4 41
Succedaneous Teeth, Agenesis of 58
Agenesis of Succedaneous Teeth 76
Lateral Incisors, Absence of 58
Absence of Lateral Incisors 76
Selective Tooth Agenesis 4 76

Characteristics:

OMIM:

58
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:

33
tooth agenesis, selective, 4:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 150400
MeSH 45 D000848
SNOMED-CT via HPO 70 16386004 258211005 263681008
UMLS 74 C1835492

Summaries for Tooth Agenesis, Selective, 4

UniProtKB/Swiss-Prot : 76 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 tooth agenesis and odontoonychodermal dysplasia. 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

Description from OMIM: 150400

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 tooth agenesis 9.7 LOC107984111 WNT10A
2 odontoonychodermal dysplasia 9.6 LOC107984111 WNT10A
3 schopf-schulz-passarge syndrome 9.5 LOC107984111 WNT10A

Symptoms & Phenotypes for Tooth Agenesis, Selective, 4

Human phenotypes related to Tooth Agenesis, Selective, 4:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 dry skin 33 occasional (7.5%) HP:0000958
2 sparse hair 33 occasional (7.5%) HP:0008070
3 sparse eyebrow 33 occasional (7.5%) HP:0045075
4 short eyelashes 33 occasional (7.5%) HP:0010764
5 reduced number of teeth 33 HP:0009804
6 peg-shaped maxillary lateral incisors 33 HP:0006342

Symptoms via clinical synopsis from OMIM:

58
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

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 30 WNT10A

Anatomical Context for Tooth Agenesis, Selective, 4

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

42
Skin

Publications for Tooth Agenesis, Selective, 4

Articles related to Tooth Agenesis, Selective, 4:

# Title Authors Year
1
WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations. ( 24449199 )
2014
2
WNT10A mutations also associated with agenesis of the maxillary permanent canines, a separate entity. ( 24311251 )
2014
3
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. ( 23401279 )
2013
4
Mutations in WNT10A are present in more than half of isolated hypodontia cases. ( 22581971 )
2012
5
WNT10A and isolated hypodontia. ( 21484994 )
2011
6
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. ( 19559398 )
2009

Variations for Tooth Agenesis, Selective, 4

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

76
# 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

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

6 (show top 50) (show all 63)
# Gene Variation Type Significance SNP ID Assembly Location
1 WNT10A NM_025216.2(WNT10A): c.321C> A (p.Cys107Ter) single nucleotide variant Pathogenic rs121908119 GRCh37 Chromosome 2, 219747090: 219747090
2 WNT10A NM_025216.2(WNT10A): c.321C> A (p.Cys107Ter) single nucleotide variant Pathogenic rs121908119 GRCh38 Chromosome 2, 218882368: 218882368
3 WNT10A NM_025216.2(WNT10A): c.682T> A (p.Phe228Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs121908120 GRCh37 Chromosome 2, 219755011: 219755011
4 WNT10A NM_025216.2(WNT10A): c.682T> A (p.Phe228Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs121908120 GRCh38 Chromosome 2, 218890289: 218890289
5 WNT10A NM_025216.2(WNT10A): c.383G> A (p.Arg128Gln) single nucleotide variant Pathogenic rs121908121 GRCh37 Chromosome 2, 219754712: 219754712
6 WNT10A NM_025216.2(WNT10A): c.383G> A (p.Arg128Gln) single nucleotide variant Pathogenic rs121908121 GRCh38 Chromosome 2, 218889990: 218889990
7 WNT10A NM_025216.2(WNT10A): c.649G> A (p.Asp217Asn) single nucleotide variant Likely benign rs146902156 GRCh37 Chromosome 2, 219754978: 219754978
8 WNT10A NM_025216.2(WNT10A): c.649G> A (p.Asp217Asn) single nucleotide variant Likely benign rs146902156 GRCh38 Chromosome 2, 218890256: 218890256
9 WNT10A WNT10A, GLY95LYS undetermined variant Pathogenic
10 WNT10A NM_025216.2(WNT10A): c.637G> A (p.Gly213Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147680216 GRCh37 Chromosome 2, 219754966: 219754966
11 WNT10A NM_025216.2(WNT10A): c.637G> A (p.Gly213Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147680216 GRCh38 Chromosome 2, 218890244: 218890244
12 WNT10A NM_025216.2(WNT10A): c.511C> T (p.Arg171Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116998555 GRCh37 Chromosome 2, 219754840: 219754840
13 WNT10A NM_025216.2(WNT10A): c.511C> T (p.Arg171Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116998555 GRCh38 Chromosome 2, 218890118: 218890118
14 WNT10A NM_025216.2(WNT10A): c.149C> T (p.Pro50Leu) single nucleotide variant Uncertain significance rs199980023 GRCh38 Chromosome 2, 218882196: 218882196
15 WNT10A NM_025216.2(WNT10A): c.149C> T (p.Pro50Leu) single nucleotide variant Uncertain significance rs199980023 GRCh37 Chromosome 2, 219746918: 219746918
16 WNT10A NM_025216.2(WNT10A): c.208C> T (p.Arg70Trp) single nucleotide variant Benign/Likely benign rs146460077 GRCh38 Chromosome 2, 218882255: 218882255
17 WNT10A NM_025216.2(WNT10A): c.208C> T (p.Arg70Trp) single nucleotide variant Benign/Likely benign rs146460077 GRCh37 Chromosome 2, 219746977: 219746977
18 WNT10A NM_025216.2(WNT10A): c.493G> A (p.Gly165Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77583146 GRCh38 Chromosome 2, 218890100: 218890100
19 WNT10A NM_025216.2(WNT10A): c.493G> A (p.Gly165Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77583146 GRCh37 Chromosome 2, 219754822: 219754822
20 WNT10A NM_025216.2(WNT10A): c.817C> A (p.Leu273Ile) single nucleotide variant Benign rs111903177 GRCh38 Chromosome 2, 218892834: 218892834
21 WNT10A NM_025216.2(WNT10A): c.817C> A (p.Leu273Ile) single nucleotide variant Benign rs111903177 GRCh37 Chromosome 2, 219757556: 219757556
22 WNT10A NM_025216.2(WNT10A): c.85C> T (p.Leu29=) single nucleotide variant Benign/Likely benign rs115839019 GRCh38 Chromosome 2, 218881080: 218881080
23 WNT10A NM_025216.2(WNT10A): c.85C> T (p.Leu29=) single nucleotide variant Benign/Likely benign rs115839019 GRCh37 Chromosome 2, 219745802: 219745802
24 WNT10A NM_025216.2(WNT10A): c.667C> T (p.Arg223Cys) single nucleotide variant Uncertain significance rs149245953 GRCh37 Chromosome 2, 219754996: 219754996
25 WNT10A NM_025216.2(WNT10A): c.667C> T (p.Arg223Cys) single nucleotide variant Uncertain significance rs149245953 GRCh38 Chromosome 2, 218890274: 218890274
26 WNT10A NM_025216.2(WNT10A): c.616C> T (p.Gln206Ter) single nucleotide variant Likely pathogenic rs1060499588 GRCh37 Chromosome 2, 219754945: 219754945
27 WNT10A NM_025216.2(WNT10A): c.616C> T (p.Gln206Ter) single nucleotide variant Likely pathogenic rs1060499588 GRCh38 Chromosome 2, 218890223: 218890223
28 WNT10A NC_000002.12: g.(?_218880976)_(218893291_?)del deletion Pathogenic GRCh38 Chromosome 2, 218880976: 218893291
29 WNT10A NC_000002.12: g.(?_218880976)_(218893291_?)del deletion Pathogenic GRCh37 Chromosome 2, 219745698: 219758013
30 WNT10A NM_025216.2(WNT10A): c.216G> T (p.Met72Ile) single nucleotide variant Uncertain significance rs373607885 GRCh37 Chromosome 2, 219746985: 219746985
31 WNT10A NM_025216.2(WNT10A): c.216G> T (p.Met72Ile) single nucleotide variant Uncertain significance rs373607885 GRCh38 Chromosome 2, 218882263: 218882263
32 WNT10A NM_025216.2(WNT10A): c.433G> A (p.Val145Met) single nucleotide variant Uncertain significance rs543063101 GRCh37 Chromosome 2, 219754762: 219754762
33 WNT10A NM_025216.2(WNT10A): c.433G> A (p.Val145Met) single nucleotide variant Uncertain significance rs543063101 GRCh38 Chromosome 2, 218890040: 218890040
34 WNT10A NM_025216.2(WNT10A): c.1212C> G (p.Cys404Trp) single nucleotide variant Uncertain significance rs1553623396 GRCh37 Chromosome 2, 219757951: 219757951
35 WNT10A NM_025216.2(WNT10A): c.1212C> G (p.Cys404Trp) single nucleotide variant Uncertain significance rs1553623396 GRCh38 Chromosome 2, 218893229: 218893229
36 WNT10A NM_025216.2(WNT10A): c.382C> T (p.Arg128Ter) single nucleotide variant Pathogenic/Likely pathogenic rs762739726 GRCh37 Chromosome 2, 219754711: 219754711
37 WNT10A NM_025216.2(WNT10A): c.382C> T (p.Arg128Ter) single nucleotide variant Pathogenic/Likely pathogenic rs762739726 GRCh38 Chromosome 2, 218889989: 218889989
38 WNT10A NM_025216.2(WNT10A): c.1034T> C (p.Phe345Ser) single nucleotide variant Uncertain significance rs1553623335 GRCh37 Chromosome 2, 219757773: 219757773
39 WNT10A NM_025216.2(WNT10A): c.1034T> C (p.Phe345Ser) single nucleotide variant Uncertain significance rs1553623335 GRCh38 Chromosome 2, 218893051: 218893051
40 WNT10A NM_025216.2(WNT10A): c.801G> C (p.Thr267=) single nucleotide variant Likely benign rs553058408 GRCh38 Chromosome 2, 218892818: 218892818
41 WNT10A NM_025216.2(WNT10A): c.801G> C (p.Thr267=) single nucleotide variant Likely benign rs553058408 GRCh37 Chromosome 2, 219757540: 219757540
42 WNT10A NM_025216.2(WNT10A): c.275C> T (p.Ala92Val) single nucleotide variant Uncertain significance rs1553622317 GRCh38 Chromosome 2, 218882322: 218882322
43 WNT10A NM_025216.2(WNT10A): c.275C> T (p.Ala92Val) single nucleotide variant Uncertain significance rs1553622317 GRCh37 Chromosome 2, 219747044: 219747044
44 WNT10A NM_025216.2(WNT10A): c.310C> T (p.Arg104Cys) single nucleotide variant Uncertain significance rs764658964 GRCh38 Chromosome 2, 218882357: 218882357
45 WNT10A NM_025216.2(WNT10A): c.310C> T (p.Arg104Cys) single nucleotide variant Uncertain significance rs764658964 GRCh37 Chromosome 2, 219747079: 219747079
46 WNT10A NM_025216.2(WNT10A): c.831G> T (p.Trp277Cys) single nucleotide variant Uncertain significance rs1234227647 GRCh38 Chromosome 2, 218892848: 218892848
47 WNT10A NM_025216.2(WNT10A): c.831G> T (p.Trp277Cys) single nucleotide variant Uncertain significance rs1234227647 GRCh37 Chromosome 2, 219757570: 219757570
48 WNT10A NM_025216.2(WNT10A): c.910A> C (p.Asn304His) single nucleotide variant Uncertain significance rs1434390821 GRCh37 Chromosome 2, 219757649: 219757649
49 WNT10A NM_025216.2(WNT10A): c.910A> C (p.Asn304His) single nucleotide variant Uncertain significance rs1434390821 GRCh38 Chromosome 2, 218892927: 218892927
50 WNT10A NM_025216.2(WNT10A): c.903_906delGCCG (p.Pro302Thrfs) deletion Uncertain significance GRCh37 Chromosome 2, 219757642: 219757645

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

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