MCID: TTH016
MIFTS: 37

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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46OMIM, 32MalaCards
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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 hypohidrotic 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:46 106600, 150400, 313500, 604625, 610926 613097 more

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

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48Orphanet, 46OMIM, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
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 46
selective tooth agenesis 48
oligodontia 48


External Ids:

SNOMED-CT via Orphanet57 64969001
ICD10 via Orphanet26 K00.0

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

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17GeneCards, 18GeneDecks
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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 157)
idRelated DiseaseScoreTop Affiliating Genes
1tooth agenesis30.8PAX9, MSX1
2hypohidrotic ectodermal dysplasia29.7EDA, EDARADD
3cleft palate29.6MSX1, FGFR1, TGFA, IRF6, PAX9
4cleft lip29.6MSX1, FGFR1, IRF6, PAX9, TGFA
5deafness oligodontia syndrome10.3
6pol iii-related leukodystrophies10.3
7cleft palate stapes fixation oligodontia10.2
8leukodystrophy with oligodontia10.2
9oligodontia-colorectal cancer syndrome10.2
10anodontia10.0
11cleft lip palate oligodontia syndactyly pili torti10.0
12syringomas natal teeth oligodontia10.0
13ectodermal dysplasia10.0EDA
14hypereosinophilic syndrome10.0FGFR1
15dentin dysplasia10.0PAX9, MSX1
16synostosis10.0FGFR1, MSX1
17breast cancer10.0AXIN2, FGFR1, TGFA
18hypohidrosis10.0EDA, EDARADD
19johanson-blizzard syndrome10.0
20wolf-hirschhorn syndrome10.0
21leukodystrophy10.0
22dermatoosteolysis kirghizian type10.0
23oto-palato-digital syndrome type 110.0
24ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.0
25smith-lemli-opitz syndrome9.8
26bloom syndrome9.8
27rothmund-thomson syndrome9.8
28cherubism9.8
29williams-beuren syndrome9.8
30kbg syndrome9.8
31type i ehlers-danlos syndrome9.8
32autosomal dominant microcephaly9.8
33weaver syndrome9.8
34osteopetrosis9.8
35ladd syndrome9.8
36papillon-lefevre disease9.8
37ellis-van creveld syndrome9.8
38syndactyly9.8
39branchiooculofacial syndrome9.8
40microcephaly9.8
41focal dermal hypoplasia9.8
42oculocerebrorenal syndrome9.8
43laron syndrome9.8
44tooth ankylosis9.8
45beare-stevenson cutis gyrata syndrome9.8
46progeria9.8
47bloch-sulzberger syndrome9.8
48coffin-lowry syndrome9.8
49keratosis9.8
50seckel 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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

106600,150400,313500,604625,610926,613097

Clinical synopsis from OMIM:

106600

Symptoms:

48 (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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

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

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

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36MGI
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MGI Mouse Phenotypes related to Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.1IRF6, EDARADD, FGFR1, MSX1, PAX9
2MP:00053898.0TGFA, PAX9, AXIN2, EDA, EDARADD
3MP:00053817.9IRF6, EDA, FGFR1, MSX1, PAX9, TGFA
4MP:00053797.4EDARADD, EDA, AXIN2, FGFR1, MSX1, PAX9
5MP:00107717.3IRF6, EDARADD, EDA, FGFR1, MSX1, TGFA
6MP:00053717.3IRF6, EDARADD, EDA, AXIN2, FGFR1, MSX1
7MP:00053917.3EDARADD, EDA, LTBP3, AXIN2, FGFR1, MSX1
8MP:00053907.2IRF6, EDA, LTBP3, AXIN2, FGFR1, MSX1
9MP:00107686.8IRF6, EDARADD, EDA, AXIN2, FGFR1, MSX1
10MP:00053786.6IRF6, EDARADD, EDA, LTBP3, FGFR1, MSX1
11MP:00053826.4TGFA, IRF6, EDARADD, EDA, LTBP3, AXIN2

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

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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft:

62
id Symbol AA change Variation ID SNP ID
1MSX1p.Arg202ProVAR_003754
2MSX1p.Met67LysVAR_015712

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

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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

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37NCBI BioSystems Database, 51QIAGEN, 29KEGG
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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
19.4MSX1, FGFR1, AXIN2
2
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9.2TGFA, FGFR1, LTBP3
3
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9.2TGFA, FGFR1, LTBP3
48.9TGFA, WNT10A, FGFR1, AXIN2
5
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8.7LTBP3, FGFR1, WNT10A, TGFA

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

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

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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:0001659.7TGFA, FGFR1
3odontogenesisGO:0424769.5PAX9, WNT10A, AXIN2
4trachea gland developmentGO:0611539.1EDA, EDARADD
5hair follicle developmentGO:0019428.9WNT10A, EDARADD
6odontogenesis of dentin-containing toothGO:0424758.7EDARADD, EDA, 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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet