MCID: TTH013
MIFTS: 22

Tooth Agenesis, Selective, 4

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 75 29 13 6 73
Tooth Agenesis, Selective, 4, with or Without Ectodermal Dysplasia 57 75
Sthag4 57 75
Lateral Incisors, Pegged or Missing 57
Pegged or Missing Lateral Incisors 75
Agenesis, Tooth, Selective, Type 4 40
Succedaneous Teeth, Agenesis of 57
Agenesis of Succedaneous Teeth 75
Lateral Incisors, Absence of 57
Absence of Lateral Incisors 75
Selective Tooth Agenesis 4 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
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:

32
tooth agenesis, selective, 4:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 150400
MeSH 44 D000848
SNOMED-CT via HPO 69 263681008 258211005 16386004
UMLS 73 C1835492

Summaries for Tooth Agenesis, Selective, 4

UniProtKB/Swiss-Prot : 75 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 odontoonychodermal dysplasia and schopf-schulz-passarge syndrome. 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 peg-shaped maxillary lateral incisors

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 odontoonychodermal dysplasia 9.3 LOC107984111 WNT10A
2 schopf-schulz-passarge syndrome 9.2 LOC107984111 WNT10A
3 tooth agenesis 9.0 LOC107984111 WNT10A

Symptoms & Phenotypes for Tooth Agenesis, Selective, 4

Symptoms via clinical synopsis from OMIM:

57
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)

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)


Clinical features from OMIM:

150400

Human phenotypes related to Tooth Agenesis, Selective, 4:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 dry skin 32 occasional (7.5%) HP:0000958
2 peg-shaped maxillary lateral incisors 32 HP:0006342
3 sparse hair 32 occasional (7.5%) HP:0008070
4 reduced number of teeth 32 HP:0009804
5 short eyelashes 32 occasional (7.5%) HP:0010764
6 sparse eyebrow 32 occasional (7.5%) HP:0045075

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:

41
Skin

Publications for Tooth Agenesis, Selective, 4

Variations for Tooth Agenesis, Selective, 4

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

75
# 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

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

6
(show all 43)
# 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.383G> A (p.Arg128Gln) single nucleotide variant Pathogenic rs121908121 GRCh37 Chromosome 2, 219754712: 219754712
4 WNT10A NM_025216.2(WNT10A): c.383G> A (p.Arg128Gln) single nucleotide variant Pathogenic rs121908121 GRCh38 Chromosome 2, 218889990: 218889990
5 WNT10A WNT10A, GLY95LYS undetermined variant Pathogenic
6 WNT10A NM_025216.2(WNT10A): c.511C> T (p.Arg171Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116998555 GRCh37 Chromosome 2, 219754840: 219754840
7 WNT10A NM_025216.2(WNT10A): c.511C> T (p.Arg171Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116998555 GRCh38 Chromosome 2, 218890118: 218890118
8 WNT10A NM_025216.2(WNT10A): c.149C> T (p.Pro50Leu) single nucleotide variant Uncertain significance rs199980023 GRCh38 Chromosome 2, 218882196: 218882196
9 WNT10A NM_025216.2(WNT10A): c.149C> T (p.Pro50Leu) single nucleotide variant Uncertain significance rs199980023 GRCh37 Chromosome 2, 219746918: 219746918
10 WNT10A NM_025216.2(WNT10A): c.208C> T (p.Arg70Trp) single nucleotide variant Benign/Likely benign rs146460077 GRCh38 Chromosome 2, 218882255: 218882255
11 WNT10A NM_025216.2(WNT10A): c.208C> T (p.Arg70Trp) single nucleotide variant Benign/Likely benign rs146460077 GRCh37 Chromosome 2, 219746977: 219746977
12 WNT10A NM_025216.2(WNT10A): c.493G> A (p.Gly165Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77583146 GRCh37 Chromosome 2, 219754822: 219754822
13 WNT10A NM_025216.2(WNT10A): c.493G> A (p.Gly165Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77583146 GRCh38 Chromosome 2, 218890100: 218890100
14 WNT10A NM_025216.2(WNT10A): c.817C> A (p.Leu273Ile) single nucleotide variant Benign rs111903177 GRCh37 Chromosome 2, 219757556: 219757556
15 WNT10A NM_025216.2(WNT10A): c.817C> A (p.Leu273Ile) single nucleotide variant Benign rs111903177 GRCh38 Chromosome 2, 218892834: 218892834
16 WNT10A NM_025216.2(WNT10A): c.85C> T (p.Leu29=) single nucleotide variant Benign/Likely benign rs115839019 GRCh38 Chromosome 2, 218881080: 218881080
17 WNT10A NM_025216.2(WNT10A): c.85C> T (p.Leu29=) single nucleotide variant Benign/Likely benign rs115839019 GRCh37 Chromosome 2, 219745802: 219745802
18 WNT10A NM_025216.2(WNT10A): c.667C> T (p.Arg223Cys) single nucleotide variant Uncertain significance rs149245953 GRCh37 Chromosome 2, 219754996: 219754996
19 WNT10A NM_025216.2(WNT10A): c.667C> T (p.Arg223Cys) single nucleotide variant Uncertain significance rs149245953 GRCh38 Chromosome 2, 218890274: 218890274
20 WNT10A NM_025216.2(WNT10A): c.616C> T (p.Gln206Ter) single nucleotide variant Likely pathogenic rs1060499588 GRCh37 Chromosome 2, 219754945: 219754945
21 WNT10A NM_025216.2(WNT10A): c.616C> T (p.Gln206Ter) single nucleotide variant Likely pathogenic rs1060499588 GRCh38 Chromosome 2, 218890223: 218890223
22 WNT10A NC_000002.12: g.(?_218880976)_(218893291_?)del deletion Pathogenic GRCh38 Chromosome 2, 218880976: 218893291
23 WNT10A NC_000002.12: g.(?_218880976)_(218893291_?)del deletion Pathogenic GRCh37 Chromosome 2, 219745698: 219758013
24 WNT10A NM_025216.2(WNT10A): c.216G> T (p.Met72Ile) single nucleotide variant Uncertain significance rs373607885 GRCh37 Chromosome 2, 219746985: 219746985
25 WNT10A NM_025216.2(WNT10A): c.216G> T (p.Met72Ile) single nucleotide variant Uncertain significance rs373607885 GRCh38 Chromosome 2, 218882263: 218882263
26 WNT10A NM_025216.2(WNT10A): c.433G> A (p.Val145Met) single nucleotide variant Uncertain significance rs543063101 GRCh37 Chromosome 2, 219754762: 219754762
27 WNT10A NM_025216.2(WNT10A): c.433G> A (p.Val145Met) single nucleotide variant Uncertain significance rs543063101 GRCh38 Chromosome 2, 218890040: 218890040
28 WNT10A NM_025216.2(WNT10A): c.1212C> G (p.Cys404Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 219757951: 219757951
29 WNT10A NM_025216.2(WNT10A): c.1212C> G (p.Cys404Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 218893229: 218893229
30 WNT10A NM_025216.2(WNT10A): c.382C> T (p.Arg128Ter) single nucleotide variant Pathogenic rs762739726 GRCh37 Chromosome 2, 219754711: 219754711
31 WNT10A NM_025216.2(WNT10A): c.382C> T (p.Arg128Ter) single nucleotide variant Pathogenic rs762739726 GRCh38 Chromosome 2, 218889989: 218889989
32 WNT10A NM_025216.2(WNT10A): c.1034T> C (p.Phe345Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 219757773: 219757773
33 WNT10A NM_025216.2(WNT10A): c.1034T> C (p.Phe345Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 218893051: 218893051
34 WNT10A NM_025216.2(WNT10A): c.801G> C (p.Thr267=) single nucleotide variant Likely benign rs553058408 GRCh37 Chromosome 2, 219757540: 219757540
35 WNT10A NM_025216.2(WNT10A): c.801G> C (p.Thr267=) single nucleotide variant Likely benign rs553058408 GRCh38 Chromosome 2, 218892818: 218892818
36 WNT10A NM_025216.2(WNT10A): c.275C> T (p.Ala92Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 218882322: 218882322
37 WNT10A NM_025216.2(WNT10A): c.275C> T (p.Ala92Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 219747044: 219747044
38 WNT10A NM_025216.2(WNT10A): c.310C> T (p.Arg104Cys) single nucleotide variant Uncertain significance rs764658964 GRCh37 Chromosome 2, 219747079: 219747079
39 WNT10A NM_025216.2(WNT10A): c.310C> T (p.Arg104Cys) single nucleotide variant Uncertain significance rs764658964 GRCh38 Chromosome 2, 218882357: 218882357
40 WNT10A NM_025216.2(WNT10A): c.831G> T (p.Trp277Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 218892848: 218892848
41 WNT10A NM_025216.2(WNT10A): c.831G> T (p.Trp277Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 219757570: 219757570
42 WNT10A NM_025216.2(WNT10A): c.910A> C (p.Asn304His) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 219757649: 219757649
43 WNT10A NM_025216.2(WNT10A): c.910A> C (p.Asn304His) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 218892927: 218892927

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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