MCID: TTH016
MIFTS: 34

Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft malady

Summaries for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

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47OMIM, 33MalaCards
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MalaCards: Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft, also known as selective tooth agenesis, is related to tooth agenesis and ectodermal dysplasia, and has symptoms including face/facial anomalies, hypoplastic mandibula/partial absence of the mandibula and tooth shape anomaly. An important gene associated with Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft is MSX1 (msh homeobox 1), and among its related pathways are Neural Crest Differentiation and p70S6K Signaling. Related mouse phenotypes are hearing/vestibular/ear and reproductive system.

Description from OMIM:47 106600, 150400, 313500, 604625, 610926 613097 more

Aliases & Classifications for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

Sources:
49Orphanet, 47OMIM, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
selective tooth agenesis:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

tooth agenesis, selective, 1, with or without orofacial cleft 47
selective tooth agenesis 49
oligodontia 49


External Ids:

ICD10 via Orphanet26 K00.0

Related Diseases for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft family:

tooth agenesis, selective, 2 tooth agenesis, selective, 3
tooth agenesis, selective, 4 tooth agenesis, selective, 1
tooth agenesis, selective, 5 tooth agenesis, selective, 6

Diseases related to Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 161)
idRelated DiseaseScoreTop Affiliating Genes
1tooth agenesis30.8PAX9, MSX1
2ectodermal dysplasia30.2EDA
3hypohidrotic ectodermal dysplasia29.7EDA, EDARADD
4cleft palate29.7MSX1, FGFR1, TGFA, IRF6, PAX9
5deafness oligodontia syndrome10.3
6pol iii-related leukodystrophies10.3
7cleft palate stapes fixation oligodontia10.2
8leukodystrophy with oligodontia10.2
9oligodontia-colorectal cancer syndrome10.2
10n syndrome10.1
11anodontia10.1
12taurodontism10.1
13cleft lip palate oligodontia syndactyly pili torti10.1
14syringomas natal teeth oligodontia10.1
15hypereosinophilic syndrome10.0FGFR1
16dentin dysplasia10.0PAX9, MSX1
17johanson-blizzard syndrome10.0
18wolf-hirschhorn syndrome10.0
19micro syndrome10.0
20dermatoosteolysis kirghizian type10.0
21oto-palato-digital syndrome type 110.0
22ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.0
23synostosis10.0FGFR1, MSX1
24breast cancer10.0AXIN2, FGFR1, TGFA
25hypohidrosis10.0EDA, EDARADD
26cleft lip10.0MSX1, FGFR1, IRF6, PAX9, TGFA
27smith-lemli-opitz syndrome9.8
28bloom syndrome9.8
29rothmund-thomson syndrome9.8
30cherubism9.8
31williams-beuren syndrome9.8
32kbg syndrome9.8
33type i ehlers-danlos syndrome9.8
34autosomal dominant microcephaly9.8
35weaver syndrome9.8
36osteopetrosis9.8
37ladd syndrome9.8
38papillon-lefevre disease9.8
39ellis-van creveld syndrome9.8
40syndactyly9.8
41branchiooculofacial syndrome9.8
42microcephaly9.8
43focal dermal hypoplasia9.8
44oculocerebrorenal syndrome9.8
45laron syndrome9.8
46tooth ankylosis9.8
47beare-stevenson cutis gyrata syndrome9.8
48progeria9.8
49bloch-sulzberger syndrome9.8
50coffin-lowry syndrome9.8

Graphical network of the top 20 diseases related to Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft:



Diseases related to tooth agenesis, selective, 1, with or without orofacial cleft

Clinical Features for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

106600,150400,313500,604625,610926,613097

Clinical synopsis from OMIM:

106600

Symptoms:

49 (show all 8)
  • face/facial anomalies
  • hypoplastic mandibula/partial absence of the mandibula
  • tooth shape anomaly
  • complete/partial microdontia
  • anodontia/oligodontia/hypodontia
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • x-linked recessive inheritance

Drugs & Therapeutics for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

Drug clinical trials:

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Search CenterWatch for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

Genetic Tests for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

Anatomical Context for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

Animal Models for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

Genetic Variations for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft:

63
id Symbol AA change Variation SNP ID
1MSX1p.Arg202ProVAR_003754
2MSX1p.Met67LysVAR_015712

Expression for genes affiliated with Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

Search GEO for disease gene expression data for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft.

Pathways for genes affiliated with Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

Sources:
38NCBI BioSystems Database, 52QIAGEN, 30KEGG
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Pathways related to Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4AXIN2, MSX1, FGFR1
2
Hide members
9.2LTBP3, FGFR1, TGFA
3
Hide members
9.2LTBP3, FGFR1, TGFA
48.9FGFR1, AXIN2, TGFA, WNT10A
5
Hide members
8.7LTBP3, FGFR1, WNT10A, TGFA

Compounds for genes affiliated with Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

GO Terms for genes affiliated with Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

Sources:
16Gene Ontology
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Biological processes related to Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1face morphogenesisGO:0603259.7PAX9, MSX1
2MAPK cascadeGO:0001659.7FGFR1, TGFA
3odontogenesisGO:0424769.5PAX9, AXIN2, WNT10A
4trachea gland developmentGO:0611539.1EDA, EDARADD
5hair follicle developmentGO:0019428.9EDARADD, WNT10A
6odontogenesis of dentin-containing toothGO:0424758.7EDA, EDARADD, MSX1

Products for genes affiliated with Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

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Sources for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet