MCID: TTH014
MIFTS: 17

Tooth Agenesis, Selective, X-Linked, 1

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 75 29 6 73
Tooth Agenesis, Selective, X-Linked 1 57 13
Sthagx1 57 75
Agenesis, Tooth, Selective, X-Linked, Type 1 40
Hypodontia/oligodontia, X-Linked, 1 57
Hypodontia/oligodontia X-Linked 1 75

Characteristics:

OMIM:

57
Inheritance:
x-linked dominant


HPO:

32
tooth agenesis, selective, x-linked, 1:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 57 313500
MedGen 42 C1970757
MeSH 44 D000848
SNOMED-CT via HPO 69 64969001 16958000 26624006
UMLS 73 C1970757

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

UniProtKB/Swiss-Prot : 75 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 anodontia

Description from OMIM: 313500

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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Teeth:
oligodontia
hypodontia


Clinical features from OMIM:

313500

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hypodontia 32 very rare (1%) HP:0000668
2 anodontia 32 HP:0000674
3 oligodontia 32 HP:0000677
4 aplasia of the maxilla 32 very rare (1%) HP:0010667
5 agenesis of premolar 32 very rare (1%) HP:0011051
6 agenesis of molar 32 very rare (1%) HP:0011054
7 agenesis of lateral incisor 32 very rare (1%) HP:0200153

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

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

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

75
# 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

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

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 EDA NM_001399.4(EDA): c.193C> G (p.Arg65Gly) single nucleotide variant Pathogenic rs132630319 GRCh37 Chromosome X, 68836345: 68836345
2 EDA NM_001399.4(EDA): c.193C> G (p.Arg65Gly) single nucleotide variant Pathogenic rs132630319 GRCh38 Chromosome X, 69616501: 69616501
3 EDA NM_001399.4(EDA): c.1072C> G (p.Gln358Glu) single nucleotide variant Pathogenic rs132630320 GRCh37 Chromosome X, 69255355: 69255355
4 EDA NM_001399.4(EDA): c.1072C> G (p.Gln358Glu) single nucleotide variant Pathogenic rs132630320 GRCh38 Chromosome X, 70035505: 70035505
5 EDA NM_001399.4(EDA): c.1013C> T (p.Thr338Met) single nucleotide variant Pathogenic rs132630321 GRCh37 Chromosome X, 69255296: 69255296
6 EDA NM_001399.4(EDA): c.1013C> T (p.Thr338Met) single nucleotide variant Pathogenic rs132630321 GRCh38 Chromosome X, 70035446: 70035446
7 EDA NM_001399.4(EDA): c.1094T> C (p.Val365Ala) single nucleotide variant Pathogenic/Likely pathogenic rs397516654 GRCh37 Chromosome X, 69255377: 69255377
8 EDA NM_001399.4(EDA): c.1094T> C (p.Val365Ala) single nucleotide variant Pathogenic/Likely pathogenic rs397516654 GRCh38 Chromosome X, 70035527: 70035527
9 EDA NM_001399.4(EDA): c.866G> A (p.Arg289His) single nucleotide variant Likely pathogenic rs876657641 GRCh38 Chromosome X, 70033470: 70033470
10 EDA NM_001399.4(EDA): c.866G> A (p.Arg289His) single nucleotide variant Likely pathogenic rs876657641 GRCh37 Chromosome X, 69253320: 69253320
11 EDA NM_001399.4(EDA): c.776C> A (p.Ala259Glu) single nucleotide variant Pathogenic rs879255611 GRCh38 Chromosome X, 70030503: 70030503
12 EDA NM_001399.4(EDA): c.776C> A (p.Ala259Glu) single nucleotide variant Pathogenic rs879255611 GRCh37 Chromosome X, 69250353: 69250353
13 EDA NM_001399.4(EDA): c.865C> T (p.Arg289Cys) single nucleotide variant Pathogenic rs879255551 GRCh38 Chromosome X, 70033469: 70033469
14 EDA NM_001399.4(EDA): c.865C> T (p.Arg289Cys) single nucleotide variant Pathogenic rs879255551 GRCh37 Chromosome X, 69253319: 69253319
15 EDA NM_001399.4(EDA): c.1001G> A (p.Arg334His) single nucleotide variant Pathogenic rs142948132 GRCh37 Chromosome X, 69255284: 69255284
16 EDA NM_001399.4(EDA): c.1001G> A (p.Arg334His) single nucleotide variant Pathogenic rs142948132 GRCh38 Chromosome X, 70035434: 70035434

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
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10 dbSNP
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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