STHAGX1
MCID: TTH014
MIFTS: 20

Tooth Agenesis, Selective, X-Linked, 1 (STHAGX1)

Categories: Genetic diseases

Aliases & Classifications for Tooth Agenesis, Selective, X-Linked, 1

MalaCards integrated aliases for Tooth Agenesis, Selective, X-Linked, 1:

Name: Tooth Agenesis, Selective, X-Linked, 1 57 72 29 6 70
Tooth Agenesis, Selective, X-Linked 1 57 13
Sthagx1 57 72
Agenesis, Tooth, Selective, X-Linked, Type 1 39
Hypodontia/oligodontia, X-Linked, 1 57
Hypodontia/oligodontia X-Linked 1 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked dominant


HPO:

31
tooth agenesis, selective, x-linked, 1:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM® 57 313500
OMIM Phenotypic Series 57 PS106600
MeSH 44 D000848
MedGen 41 C1970757
SNOMED-CT via HPO 68 16958000 26624006 64969001
UMLS 70 C1970757

Summaries for Tooth Agenesis, Selective, X-Linked, 1

UniProtKB/Swiss-Prot : 72 Tooth agenesis, selective, X-linked, 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).

MalaCards based summary : Tooth Agenesis, Selective, X-Linked, 1, is also known as tooth agenesis, selective, x-linked 1. An important gene associated with Tooth Agenesis, Selective, X-Linked, 1 is EDA (Ectodysplasin A). Related phenotypes are hypodontia and agenesis of premolar

More information from OMIM: 313500 PS106600

Related Diseases for Tooth Agenesis, Selective, X-Linked, 1

Symptoms & Phenotypes for Tooth Agenesis, Selective, X-Linked, 1

Human phenotypes related to Tooth Agenesis, Selective, X-Linked, 1:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hypodontia 31 very rare (1%) HP:0000668
2 agenesis of premolar 31 very rare (1%) HP:0011051
3 agenesis of lateral incisor 31 very rare (1%) HP:0200153
4 aplasia of the maxilla 31 very rare (1%) HP:0010667
5 agenesis of molar 31 very rare (1%) HP:0011054
6 oligodontia 31 HP:0000677
7 anodontia 31 HP:0000674

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Teeth:
hypodontia
oligodontia

Clinical features from OMIM®:

313500 (Updated 20-May-2021)

Drugs & Therapeutics for Tooth Agenesis, Selective, X-Linked, 1

Search Clinical Trials , NIH Clinical Center for Tooth Agenesis, Selective, X-Linked, 1

Genetic Tests for Tooth Agenesis, Selective, X-Linked, 1

Genetic tests related to Tooth Agenesis, Selective, X-Linked, 1:

# Genetic test Affiliating Genes
1 Tooth Agenesis, Selective, X-Linked, 1 29 EDA

Anatomical Context for Tooth Agenesis, Selective, X-Linked, 1

Publications for Tooth Agenesis, Selective, X-Linked, 1

Articles related to Tooth Agenesis, Selective, X-Linked, 1:

# Title Authors PMID Year
1
EDA gene mutations underlie non-syndromic oligodontia. 57 6
19278982 2009
2
Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis. 6 57
18657636 2008
3
A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia. 6 57
17256800 2007
4
A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. 6 57
16583127 2006
5
[Sex-linked-dominant hereditary reduction in number of teeth]. 57
6080810 1967

Variations for Tooth Agenesis, Selective, X-Linked, 1

ClinVar genetic disease variations for Tooth Agenesis, Selective, X-Linked, 1:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EDA NM_001399.5(EDA):c.193C>G (p.Arg65Gly) SNV Pathogenic 11044 rs132630319 GRCh37: X:68836345-68836345
GRCh38: X:69616501-69616501
2 EDA NM_001399.5(EDA):c.1072C>G (p.Gln358Glu) SNV Pathogenic 11045 rs132630320 GRCh37: X:69255355-69255355
GRCh38: X:70035505-70035505
3 EDA NM_001399.5(EDA):c.1013C>T (p.Thr338Met) SNV Pathogenic 11048 rs132630321 GRCh37: X:69255296-69255296
GRCh38: X:70035446-70035446
4 EDA NM_001399.5(EDA):c.776C>A (p.Ala259Glu) SNV Pathogenic 253053 rs879255611 GRCh37: X:69250353-69250353
GRCh38: X:70030503-70030503
5 EDA NM_001399.5(EDA):c.865C>T (p.Arg289Cys) SNV Pathogenic 253054 rs879255551 GRCh37: X:69253319-69253319
GRCh38: X:70033469-70033469
6 EDA NM_001399.5(EDA):c.463C>T (p.Arg155Cys) SNV Pathogenic 11035 rs132630312 GRCh37: X:69176943-69176943
GRCh38: X:69957093-69957093
7 EDA NM_001399.5(EDA):c.866G>A (p.Arg289His) SNV Pathogenic 228257 rs876657641 GRCh37: X:69253320-69253320
GRCh38: X:70033470-70033470
8 EDA NM_001399.5(EDA):c.956G>A (p.Ser319Asn) SNV Likely pathogenic 625527 rs483352804 GRCh37: X:69255239-69255239
GRCh38: X:70035389-70035389
9 EDA NM_001399.5(EDA):c.181T>C (p.Tyr61His) SNV Likely pathogenic 11031 rs132630308 GRCh37: X:68836333-68836333
GRCh38: X:69616489-69616489
10 EDA NM_001399.5(EDA):c.1001G>A (p.Arg334His) SNV Conflicting interpretations of pathogenicity 253055 rs142948132 GRCh37: X:69255284-69255284
GRCh38: X:70035434-70035434
11 EDA NM_001399.5(EDA):c.956G>T (p.Ser319Ile) SNV not provided 127066 rs483352804 GRCh37: X:69255239-69255239
GRCh38: X:70035389-70035389

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

72
# Symbol AA change Variation ID SNP ID
1 EDA p.Arg65Gly VAR_029534 rs132630319
2 EDA p.Thr338Met VAR_064868 rs132630321
3 EDA p.Ala259Glu VAR_071454 rs879255611
4 EDA p.Ile260Ser VAR_071455
5 EDA p.Arg289Cys VAR_071456 rs879255551
6 EDA p.Arg289Leu VAR_071457
7 EDA p.Arg334His VAR_071458 rs142948132
8 EDA p.Phe379Val VAR_071459

Expression for Tooth Agenesis, Selective, X-Linked, 1

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

Pathways for Tooth Agenesis, Selective, X-Linked, 1

GO Terms for Tooth Agenesis, Selective, X-Linked, 1

Sources for Tooth Agenesis, Selective, X-Linked, 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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