MCID: OTD001
MIFTS: 25

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 52 48 24 54 27 12 68
Oculootodental Syndrome 54 68
11q13.3 Deletion Syndrome 24
 
Otodental Syndrome 54
Globodontia 54
Ood 54

Characteristics:

Orphanet epidemiological data:

54
otodental dysplasia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
oculootodental syndrome:
Prevalence: <1/1000000 (Worldwide)

HPO:

64
otodental dysplasia:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 166750
ICD10 via Orphanet31 K00.2

Summaries for Otodental Dysplasia

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OMIM:52 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 oculootodental 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:71 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 dysplasia9.9
2hyperimmunoglobulin syndrome9.5FADD, FGF3
3spastic paraparesis and deafness8.8FADD, FGF3, OTDD

Symptoms & Phenotypes for Otodental Dysplasia

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Symptoms by clinical synopsis from OMIM:

166750

Clinical features from OMIM:

166750

Human phenotypes related to Otodental Dysplasia:

 64 (show all 26)
id Description HPO Frequency HPO Source Accession
1 gingival overgrowth64 typical (50%) HP:0000212
2 long face64 typical (50%) HP:0000276
3 full cheeks64 typical (50%) HP:0000293
4 sensorineural hearing impairment64 typical (50%) HP:0000407
5 taurodontia64 typical (50%) HP:0000679
6 abnormality of dental enamel64 typical (50%) HP:0000682
7 delayed eruption of teeth64 typical (50%) HP:0000684
8 dental malocclusion64 typical (50%) HP:0000689
9 reduced number of teeth64 typical (50%) HP:0009804
10 abnormality of the palate64 occasional (7.5%) HP:0000174
11 long philtrum64 occasional (7.5%) HP:0000343
12 micrognathia64 occasional (7.5%) HP:0000347
13 abnormality of the pinna64 occasional (7.5%) HP:0000377
14 anteverted nares64 occasional (7.5%) HP:0000463
15 microcornea64 occasional (7.5%) HP:0000482
16 cataract64 occasional (7.5%) HP:0000518
17 chorioretinal coloboma64 occasional (7.5%) HP:0000567
18 iris coloboma64 occasional (7.5%) HP:0000612
19 melanocytic nevus64 occasional (7.5%) HP:0000995
20 heterochromia iridis64 occasional (7.5%) HP:0001100
21 aplasia/hypoplasia affecting the eye64 occasional (7.5%) HP:0008056
22 increased number of teeth64 occasional (7.5%) HP:0011069
23 lens coloboma64 occasional (7.5%) HP:0100719
24 coloboma64 rare (5%) HP:0000589
25 hypodontia64 HP:0000668
26 pulp stones64 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 Dysplasia27 24

Anatomical Context for Otodental Dysplasia

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MalaCards organs/tissues related to Otodental Dysplasia:

36
Eye

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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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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet