MCID: TTH016
MIFTS: 12

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

Genetic diseases (common) category

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

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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 45 10
 
Tooth Agenesis, Selective, 1 45 20


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 106600

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

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OMIM:45 Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth... (106600) more...

MalaCards based summary: Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft, is also known as tooth agenesis, selective, 1, and has symptoms including autosomal dominant inheritanceand hypodontia. An important gene associated with Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft is MSX1 (msh homeobox 1).

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

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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

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

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 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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Genetic tests related to Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft:

id Genetic test Affiliating Genes
1 Tooth Agenesis, Selective, 120 MSX1

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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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:

62
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
id Gene Variation 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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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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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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Products for genes affiliated with Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet