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 51 47 24 53 26 12 67
Oculootodental Syndrome 53 67
11q13.3 Deletion Syndrome 24
 
Otodental Syndrome 53
Globodontia 53
Ood 53

Characteristics:

Orphanet epidemiological data:

53
otodental dysplasia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
oculootodental syndrome:
Prevalence: <1/1000000 (Worldwide)

HPO:

63
otodental dysplasia:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 166750
ICD10 via Orphanet30 K00.2

Summaries for Otodental Dysplasia

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OMIM:51 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:70 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 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:

 63 (show all 26)
id Description HPO Frequency HPO Source Accession
1 gingival overgrowth63 typical (50%) HP:0000212
2 long face63 typical (50%) HP:0000276
3 full cheeks63 typical (50%) HP:0000293
4 sensorineural hearing impairment63 typical (50%) HP:0000407
5 taurodontia63 typical (50%) HP:0000679
6 abnormality of dental enamel63 typical (50%) HP:0000682
7 delayed eruption of teeth63 typical (50%) HP:0000684
8 dental malocclusion63 typical (50%) HP:0000689
9 reduced number of teeth63 typical (50%) HP:0009804
10 abnormality of the palate63 occasional (7.5%) HP:0000174
11 long philtrum63 occasional (7.5%) HP:0000343
12 micrognathia63 occasional (7.5%) HP:0000347
13 abnormality of the pinna63 occasional (7.5%) HP:0000377
14 anteverted nares63 occasional (7.5%) HP:0000463
15 microcornea63 occasional (7.5%) HP:0000482
16 cataract63 occasional (7.5%) HP:0000518
17 chorioretinal coloboma63 occasional (7.5%) HP:0000567
18 iris coloboma63 occasional (7.5%) HP:0000612
19 melanocytic nevus63 occasional (7.5%) HP:0000995
20 heterochromia iridis63 occasional (7.5%) HP:0001100
21 aplasia/hypoplasia affecting the eye63 occasional (7.5%) HP:0008056
22 increased number of teeth63 occasional (7.5%) HP:0011069
23 lens coloboma63 occasional (7.5%) HP:0100719
24 coloboma63 rare (5%) HP:0000589
25 hypodontia63 HP:0000668
26 pulp stones63 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 Dysplasia26 24

Anatomical Context for Otodental Dysplasia

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MalaCards organs/tissues related to Otodental Dysplasia:

35
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 "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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet