MCID: TTH016
MIFTS: 40

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

Genetic diseases, Oral diseases, Rare diseases categories
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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 Angiogenesis and Neural Crest Differentiation. The compound suramin have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and cardiovascular system.

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

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

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49Orphanet, 47OMIM, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Oral diseases


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:

SNOMED-CT via Orphanet59 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 agenesis30.9MSX1, PAX9
2ectodermal dysplasia30.3EDA
3hypohidrotic ectodermal dysplasia29.7EDARADD, EDA
4cleft lip29.6TGFA, PAX9, IRF6, MSX1, FGFR1
5deafness oligodontia syndrome10.4
6pol iii-related leukodystrophies10.3
7cleft palate stapes fixation oligodontia10.2
8leukodystrophy with oligodontia10.2
9oligodontia-colorectal cancer syndrome10.2
10anodontia10.1
11cleft lip palate oligodontia syndactyly pili torti10.1
12syringomas natal teeth oligodontia10.1
13taurodontism10.1
14synostosis10.0MSX1, FGFR1
15dentin dysplasia10.0MSX1, PAX9
16wolf-hirschhorn syndrome10.0
17johanson-blizzard syndrome10.0
18dermatoosteolysis kirghizian type10.0
19oto-palato-digital syndrome type 110.0
20ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.0
21hypohidrosis10.0EDA, EDARADD
22adenoma10.0TGFA, AXIN2, FGFR1
23cleft palate9.9TGFA, PAX9, IRF6, MSX1, FGFR1
24williams-beuren syndrome9.8
25cherubism9.8
26rothmund-thomson syndrome9.8
27bloom syndrome9.8
28focal dermal hypoplasia9.8
29oculocerebrorenal syndrome9.8
30laron syndrome9.8
31microcephaly9.8
32tooth ankylosis9.8
33kbg syndrome9.8
34autosomal dominant microcephaly9.8
35weaver syndrome9.8
36type i ehlers-danlos syndrome9.8
37osteopetrosis9.8
38ladd syndrome9.8
39papillon-lefevre disease9.8
40ellis-van creveld syndrome9.8
41syndactyly9.8
42beare-stevenson cutis gyrata syndrome9.8
43branchiooculofacial syndrome9.8
44coffin-lowry syndrome9.8
45bloch-sulzberger syndrome9.8
46progeria9.8
47smith-lemli-opitz syndrome9.8
48colorectal cancer9.8
49keratosis9.8
50leukodystrophy9.8

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

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

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

106600

Clinical features from OMIM:

106600,150400,313500,604625,610926,613097

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

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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

Search NIH Clinical Center for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

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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37MGI
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MGI Mouse Phenotypes related to Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft:

37 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6TGFA, PAX9, MSX1, FGFR1
2MP:00053858.4EDA, TGFA, MSX1, AXIN2, FGFR1
3MP:00053888.3MSX1, PAX9, EDARADD, EDA
4MP:00053778.3EDARADD, PAX9, IRF6, MSX1, FGFR1
5MP:00053878.1FGFR1, LTBP3, PAX9, TGFA, EDA
6MP:00053818.0EDA, TGFA, PAX9, IRF6, MSX1, FGFR1
7MP:00053867.9EDARADD, PAX9, MSX1, LTBP3, FGFR1
8MP:00053897.7EDA, EDARADD, TGFA, PAX9, AXIN2
9MP:00107717.6EDA, EDARADD, TGFA, IRF6, MSX1, FGFR1
10MP:00053717.4EDA, EDARADD, PAX9, IRF6, MSX1, AXIN2
11MP:00053917.4EDA, EDARADD, TGFA, MSX1, AXIN2, LTBP3
12MP:00107687.3EDA, EDARADD, PAX9, IRF6, MSX1, AXIN2
13MP:00053907.3EDA, TGFA, PAX9, IRF6, MSX1, AXIN2
14MP:00053797.2EDA, EDARADD, TGFA, PAX9, MSX1, AXIN2
15MP:00053786.8EDA, EDARADD, TGFA, PAX9, IRF6, MSX1
16MP:00053826.5FGFR1, EDA, EDARADD, TGFA, PAX9, IRF6

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

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

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft:

64
id Symbol AA change Variation ID SNP ID
1MSX1p.Arg202ProVAR_003754
2MSX1p.Met67LysVAR_015712

Clinvar genetic disease variations for Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft:

1
id Gene Name Type Significance SNP ID Assembly Location
1MSX1NM_002448.3(MSX1): c.605G> C (p.Arg202Pro)single nucleotide variantPathogenicrs121913129GRCh37Chr 4, 4864563: 4864563
2MSX1NM_002448.3(MSX1): c.577C> T (p.Gln193Ter)single nucleotide variantPathogenicrs104893850GRCh37Chr 4, 4864535: 4864535
3MSX1NM_002448.3(MSX1): c.200T> A (p.Met67Lys)single nucleotide variantPathogenicrs121913130GRCh37Chr 4, 4861826: 4861826
4MSX1MSX1, 1-BP DUP, 62GduplicationPathogenic

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

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2BioGPS, 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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50PathCards, 5Cell Signaling Technology, 38NCBI BioSystems Database, 53QIAGEN, 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
19.5FGFR1, TGFA
29.5MSX1, AXIN2, FGFR1
3
Show member pathways
9.2FGFR1, LTBP3, TGFA
4
Show member pathways
9.2FGFR1, LTBP3, TGFA
5
Show member pathways
9.2FGFR1, LTBP3, TGFA
6
Show member pathways
9.2TGFA, LTBP3, FGFR1
7
Show member pathways
8.8LTBP3, FGFR1, TGFA, WNT10A
88.7AXIN2, TGFA, WNT10A, FGFR1

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

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45Novoseek, 29IUPHAR, 11DrugBank
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Compounds related to Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1suramin45 29 1111.5FGFR1, TGFA

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:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1bone morphogenesisGO:06034910.0LTBP3, MSX1
2middle ear morphogenesisGO:04247410.0MSX1, FGFR1
3midbrain developmentGO:0309019.9FGFR1, MSX1
4regulation of odontogenesisGO:0424819.8MSX1, PAX9
5face morphogenesisGO:0603259.7MSX1, PAX9
6MAPK cascadeGO:0001659.5FGFR1, TGFA
7odontogenesisGO:0424769.4AXIN2, WNT10A, PAX9
8trachea gland developmentGO:0611539.4EDARADD, EDA
9hair follicle developmentGO:0019429.1EDARADD, WNT10A
10negative regulation of cell proliferationGO:0082859.0AXIN2, MSX1, IRF6
11odontogenesis of dentin-containing toothGO:0424759.0EDA, 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

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet