MCID: OTD001
MIFTS: 18

Otodental Dysplasia malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Otodental Dysplasia

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Aliases & Descriptions for Otodental Dysplasia:

Name: Otodental Dysplasia 45 22 24 65
 
11q13.3 Deletion Syndrome 22

Characteristics:



Classifications:



External Ids:

UMLS65 C1833693

Summaries for Otodental Dysplasia

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MalaCards based summary: Otodental Dysplasia, also known as 11q13.3 deletion syndrome, is related to otodental syndrome and ectodermal dysplasia, and has symptoms including reduced number of teeth, dental malocclusion and delayed eruption of teeth. An important gene associated with Otodental Dysplasia is OTDD (Otodental Dysplasia Chromosome Deletion Syndrome). Affiliated tissues include eye, breast and pituitary.

Related Diseases for Otodental Dysplasia

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Diseases related to Otodental Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1otodental syndrome11.5
2ectodermal dysplasia10.0

Symptoms for Otodental Dysplasia

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HPO human phenotypes related to Otodental Dysplasia:

(show all 31)
id Description Frequency HPO Source Accession
1 reduced number of teeth typical (50%) HP:0009804
2 dental malocclusion typical (50%) HP:0000689
3 delayed eruption of teeth typical (50%) HP:0000684
4 abnormality of dental enamel typical (50%) HP:0000682
5 taurodontia typical (50%) HP:0000679
6 sensorineural hearing impairment typical (50%) HP:0000407
7 full cheeks typical (50%) HP:0000293
8 long face typical (50%) HP:0000276
9 gingival overgrowth typical (50%) HP:0000212
10 lens coloboma occasional (7.5%) HP:0100719
11 increased number of teeth occasional (7.5%) HP:0011069
12 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
13 heterochromia iridis occasional (7.5%) HP:0001100
14 melanocytic nevus occasional (7.5%) HP:0000995
15 iris coloboma occasional (7.5%) HP:0000612
16 chorioretinal coloboma occasional (7.5%) HP:0000567
17 cataract occasional (7.5%) HP:0000518
18 microcornea occasional (7.5%) HP:0000482
19 anteverted nares occasional (7.5%) HP:0000463
20 abnormality of the pinna occasional (7.5%) HP:0000377
21 micrognathia occasional (7.5%) HP:0000347
22 long philtrum occasional (7.5%) HP:0000343
23 abnormality of the palate occasional (7.5%) HP:0000174
24 coloboma rare (5%) HP:0000589
25 pulp stones HP:0003771
26 taurodontia HP:0000679
27 hypodontia HP:0000668
28 anteverted nares HP:0000463
29 sensorineural hearing impairment HP:0000407
30 long philtrum HP:0000343
31 long face HP:0000276

Drugs & Therapeutics for Otodental Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Otodental Dysplasia

Genetic Tests for Otodental Dysplasia

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Genetic tests related to Otodental Dysplasia:

id Genetic test Affiliating Genes
1 Otodental Dysplasia22

Anatomical Context for Otodental Dysplasia

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MalaCards organs/tissues related to Otodental Dysplasia:

33
Eye, Breast, Pituitary

Animal Models for Otodental Dysplasia or affiliated genes

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Publications for Otodental Dysplasia

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Articles related to Otodental Dysplasia:

idTitleAuthorsYear
1
Otodental dysplasia: a five year study. (7227680)
1981
2
Otodental dysplasia: a "new" ectodermal dysplasia. (1175318)
1975
3
Otodental dysplasia. (1218202)
1975

Variations for Otodental Dysplasia

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Expression for genes affiliated with Otodental Dysplasia

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Search GEO for disease gene expression data for Otodental Dysplasia.

Pathways for genes affiliated with Otodental Dysplasia

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GO Terms for genes affiliated with Otodental Dysplasia

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Sources for Otodental Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet