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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MalaCards based summary: Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft, also known as selective tooth agenesis, is related to ectodermal dysplasia and tooth agenesis, 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 respiratory system and muscle.

Descriptions 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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Sources:
48Orphanet, 46OMIM, 26ICD10 via Orphanet
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Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft, Aliases & Descriptions:

Name: Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft 46
Selective Tooth Agenesis 48
 
Oligodontia 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
selective tooth agenesis:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Childhood; Age of death: Normal


External Ids:

ICD10 via Orphanet26 K00.0

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

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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 160)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia30.7EDA
2tooth agenesis30.5MSX1, PAX9
3hypohidrotic ectodermal dysplasia29.9EDARADD, EDA
4cleft lip29.0TGFA, IRF6, MSX1, FGFR1, PAX9
5deafness oligodontia syndrome10.4
6pol iii-related leukodystrophies10.3
7cleft palate stapes fixation oligodontia10.3
8leukodystrophy with oligodontia10.3
9oligodontia-colorectal cancer syndrome10.3
10dentin dysplasia10.2MSX1, PAX9
11hypohidrosis10.1EDARADD, EDA
12anodontia10.1
13cleft lip palate oligodontia syndactyly pili torti10.1
14syringomas natal teeth oligodontia10.1
15taurodontism10.1
16synostosis10.1MSX1, FGFR1
17johanson-blizzard syndrome10.0
18cherubism10.0
19wolf-hirschhorn syndrome10.0
20leukodystrophy10.0
21dermatoosteolysis kirghizian type10.0
22martinez monasterio pinheiro syndrome10.0
23oto-palato-digital syndrome type 210.0
24ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.0
25colorectal cancer9.9
26osteopetrosis9.9
27rothmund-thomson syndrome9.9
28bloom syndrome9.9
29treacher collins syndrome9.9
30focal dermal hypoplasia9.9
31kbg syndrome9.9
32type i ehlers-danlos syndrome9.9
33weaver syndrome9.9
34autosomal dominant microcephaly9.9
35smith-lemli-opitz syndrome9.9
36williams-beuren syndrome9.9
37oculocerebrorenal syndrome9.9
38charge syndrome9.9
39koolen de vries syndrome9.9
40laron syndrome9.9
41tooth ankylosis9.9
42ladd syndrome9.9
43achondroplasia9.9
44ellis-van creveld syndrome9.9
45seckel syndrome9.9
46branchiooculofacial syndrome9.9
47beare-stevenson cutis gyrata syndrome9.9
48microcephaly9.9
49incontinentia pigmenti achromians9.9
50papillon-lefevre disease9.9

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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Symptoms by clinical synopsis from OMIM:

106600

Clinical features from OMIM:

106600,150400,313500,604625,610926,613097

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

HPO human phenotypes related to Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft:

id Description Frequency HPO Source Accession
1 micrognathia hallmark (90%) HP:0000347
2 microdontia hallmark (90%) HP:0000691
3 reduced number of teeth hallmark (90%) HP:0009804
4 autosomal dominant inheritance HP:0000006
5 hypodontia HP:0000668

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

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

36 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.9EDA, MSX1, PAX9, EDARADD
2MP:00053698.4FGFR1, MSX1, TGFA, PAX9
3MP:00053778.4PAX9, MSX1, IRF6, EDARADD, FGFR1
4MP:00053868.2EDARADD, FGFR1, LTBP3, MSX1, PAX9
5MP:00053878.1FGFR1, LTBP3, PAX9, TGFA, EDA
6MP:00053858.0EDA, AXIN2, MSX1, TGFA, FGFR1
7MP:00053897.9EDA, EDARADD, TGFA, PAX9, AXIN2
8MP:00053817.7EDA, TGFA, PAX9, IRF6, FGFR1, MSX1
9MP:00053717.6IRF6, PAX9, EDARADD, EDA, MSX1, AXIN2
10MP:00107717.5FGFR1, EDA, IRF6, MSX1, EDARADD, TGFA
11MP:00107687.4EDA, EDARADD, PAX9, IRF6, MSX1, AXIN2
12MP:00053917.4EDA, EDARADD, FGFR1, LTBP3, TGFA, AXIN2
13MP:00053797.3TGFA, FGFR1, AXIN2, MSX1, PAX9, EDA
14MP:00053906.9EDA, TGFA, PAX9, IRF6, MSX1, AXIN2
15MP:00053786.9EDARADD, PAX9, IRF6, MSX1, LTBP3, FGFR1
16MP:00053826.4FGFR1, LTBP3, AXIN2, MSX1, IRF6, PAX9

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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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:

6 (show all 28)
id Gene Name Type Significance SNP ID Assembly Location
1EDANM_001399.4(EDA): c.193C> G (p.Arg65Gly)single nucleotide variantPathogenicrs132630319GRCh37Chr X, 68836345: 68836345
2EDANM_001399.4(EDA): c.1072C> G (p.Gln358Glu)single nucleotide variantPathogenicrs132630320GRCh37Chr X, 69255355: 69255355
3EDANM_001399.4(EDA): c.1013C> T (p.Thr338Met)single nucleotide variantPathogenicrs132630321GRCh37Chr X, 69255296: 69255296
4PAX9PAX9, 1-BP INS, 219GinsertionPathogenic
5PAX9NM_006194.3(PAX9): c.340A> T (p.Lys114Ter)single nucleotide variantPathogenicrs104894467GRCh37Chr 14, 37132437: 37132437
6PAX9PAX9, DELdeletionPathogenic
7PAX9NM_006194.3(PAX9): c.271A> G (p.Lys91Glu)single nucleotide variantPathogenicrs28933373GRCh37Chr 14, 37132368: 37132368
8PAX9NM_006194.3(PAX9): c.62T> C (p.Leu21Pro)single nucleotide variantPathogenicrs28933970GRCh37Chr 14, 37132159: 37132159
9PAX9PAX9, 288-BP INSinsertionPathogenic
10PAX9NM_006194.3(PAX9): c.83G> C (p.Arg28Pro)single nucleotide variantPathogenicrs28933971GRCh37Chr 14, 37132180: 37132180
11PAX9NM_006194.3(PAX9): c.76C> T (p.Arg26Trp)single nucleotide variantPathogenicrs28933972GRCh37Chr 14, 37132173: 37132173
12PAX9NM_006194.3(PAX9): c.259A> T (p.Ile87Phe)single nucleotide variantPathogenicrs104894468GRCh37Chr 14, 37132356: 37132356
13PAX9PAX9, 1-BP INS, 793CinsertionPathogenic
14PAX9PAX9, 1A-Gsingle nucleotide variantPathogenic
15PAX9PAX9, 3-BP DEL, 24-BP INS, NT619indelPathogenic
16PAX9NM_006194.3(PAX9): c.151G> A (p.Gly51Ser)single nucleotide variantPathogenicrs104894469GRCh37Chr 14, 37132248: 37132248
17PAX9PAX9, 1-BP INS, 190GinsertionPathogenic
18PAX9NM_006194.3(PAX9): c.139C> T (p.Arg47Trp)single nucleotide variantPathogenicrs121917720GRCh37Chr 14, 37132236: 37132236
19WNT10ANM_025216.2(WNT10A): c.637G> A (p.Gly213Ser)single nucleotide variantPathogenicGRCh37Chr 2, 219754966: 219754966
20MSX1NM_002448.3(MSX1): c.605G> C (p.Arg202Pro)single nucleotide variantPathogenicrs121913129GRCh37Chr 4, 4864563: 4864563
21MSX1NM_002448.3(MSX1): c.577C> T (p.Gln193Ter)single nucleotide variantPathogenicrs104893850GRCh37Chr 4, 4864535: 4864535
22MSX1NM_002448.3(MSX1): c.200T> A (p.Met67Lys)single nucleotide variantPathogenicrs121913130GRCh37Chr 4, 4861826: 4861826
23MSX1MSX1, 1-BP DUP, 62GduplicationPathogenic
24WNT10ANM_025216.2(WNT10A): c.649G> A (p.Asp217Asn)single nucleotide variantPathogenicrs146902156GRCh37Chr 2, 219754978: 219754978
25WNT10AWNT10A, GLY95LYSundetermined variantPathogenic
26WNT10ANM_025216.2(WNT10A): c.682T> A (p.Phe228Ile)single nucleotide variantPathogenicrs121908120GRCh37Chr 2, 219755011: 219755011
27WNT10ANM_025216.2(WNT10A): c.383G> A (p.Arg128Gln)single nucleotide variantPathogenicrs121908121GRCh37Chr 2, 219754712: 219754712
28LTBP3NM_001130144.2(LTBP3): c.2322C> G (p.Tyr774Ter)single nucleotide variantPathogenicrs121909145GRCh37Chr 11, 65313944: 65313944

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

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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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Pathways related to Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2FGFR1, TGFA
29.2MSX1, AXIN2, FGFR1
3
Show member pathways
8.9FGFR1, LTBP3, TGFA
4
Show member pathways
8.9FGFR1, LTBP3, TGFA
5
Show member pathways
8.9FGFR1, LTBP3, TGFA
6
Show member pathways
8.9TGFA, LTBP3, FGFR1
7
Show member pathways
8.5LTBP3, FGFR1, TGFA, WNT10A
88.3AXIN2, TGFA, WNT10A, FGFR1

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

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank
See all sources

Compounds related to Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1suramin44 28 1111.2FGFR1, TGFA

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

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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
2regulation of odontogenesisGO:04248110.0MSX1, PAX9
3face morphogenesisGO:0603259.9MSX1, PAX9
4middle ear morphogenesisGO:0424749.8MSX1, FGFR1
5trachea gland developmentGO:0611539.8EDARADD, EDA
6midbrain developmentGO:0309019.7FGFR1, MSX1
7hair follicle developmentGO:0019429.5EDARADD, WNT10A
8odontogenesisGO:0424769.5AXIN2, WNT10A, PAX9
9odontogenesis of dentin-containing toothGO:0424759.4EDA, EDARADD, MSX1
10MAPK cascadeGO:0001659.2FGFR1, TGFA
11negative regulation of cell proliferationGO:0082858.7AXIN2, MSX1, IRF6

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

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  • Antibodies
  • Proteins
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet