MCID: OTD001
MIFTS: 26

Otodental Dysplasia malady

Categories: Genetic diseases, Rare diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Otodental Dysplasia

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Aliases & Descriptions for Otodental Dysplasia:

Name: Otodental Dysplasia 50 46 23 52 25 12 66
11q13.3 Deletion Syndrome 23
Oculootodental Syndrome 52
 
Otodental Syndrome 52
Globodontia 52
Ood 52

Characteristics:

Orphanet epidemiological data:

52
otodental dysplasia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
oculootodental syndrome:
Prevalence: <1/1000000 (Worldwide)

HPO:

62
otodental dysplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 166750
ICD10 via Orphanet29 K00.2

Summaries for Otodental Dysplasia

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OMIM:50 Otodental syndrome is an autosomal dominant condition characterized by grossly enlarged canine and molar teeth... (166750) more...

MalaCards based summary: Otodental Dysplasia, also known as 11q13.3 deletion syndrome, is related to ectodermal dysplasia and hyperimmunoglobulin syndrome, and has symptoms including gingival overgrowth, long face and full cheeks. An important gene associated with Otodental Dysplasia is FGF3 (Fibroblast Growth Factor 3), and among its related pathways is Pathways in cancer. Affiliated tissues include eye.

Wikipedia:69 Otodental syndrome, also known as otodental dysplasia, is an exceptionally rare disease that is... more...

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
1ectodermal dysplasia10.0
2hyperimmunoglobulin syndrome9.5FADD, FGF3
3spastic paraparesis and deafness8.6FADD, FGF3, OTDD

Symptoms for Otodental Dysplasia

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Symptoms by clinical synopsis from OMIM:

166750

Clinical features from OMIM:

166750

HPO human phenotypes related to Otodental Dysplasia:

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

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 Dysplasia25 23

Anatomical Context for Otodental Dysplasia

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MalaCards organs/tissues related to Otodental Dysplasia:

34
Eye

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 &quot;new&quot; ectodermal dysplasia. (1175318)
1975
3
Otodental dysplasia. (1218202)
1975

Variations for Otodental Dysplasia

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Copy number variations for Otodental Dysplasia from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
157119116310000076700000DeletionCTTNoto-dental syndrome
257120116310000076700000DeletionFADDoto-dental syndrome
357121116310000076700000DeletionFGF3oto-dental syndrome
457123116310000076700000DeletionORAOV1oto-dental syndrome
557124116310000076700000DeletionPPFIA1oto-dental syndrome

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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Pathways related to Otodental Dysplasia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.0FADD, FGF3

GO Terms for genes affiliated with Otodental Dysplasia

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Sources for Otodental Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet