MCID: OTD001
MIFTS: 25

Otodental Dysplasia malady

Genetic diseases, Rare diseases, Fetal diseases, Oral diseases categories

Summaries for Otodental Dysplasia

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Wikipedia:65 Otodental syndrome, also known as otodental dysplasia, is an exceptionally rare disease that is... more...

MalaCards based summary: Otodental Dysplasia, also known as otodental syndrome, is related to ectodermal dysplasia, and has symptoms including gingival overgrowth, long face and full cheeks. An important gene associated with Otodental Dysplasia is FGF3 (fibroblast growth factor 3). Affiliated tissues include eye.

Aliases & Classifications for Otodental Dysplasia

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Sources:
43NIH Rare Diseases, 22GeneTests, 49Orphanet, 24GTR, 62UMLS, 28ICD10 via Orphanet
See all sources

Otodental Dysplasia, Aliases & Descriptions:

Name: Otodental Dysplasia 43 22 49 24 62
Otodental Syndrome 43 49
 
Globodontia 43 49


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Oral diseases


Characteristics (Orphanet epidemiological data):

49
otodental dysplasia:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

Orphanet49 2791
ICD10 via Orphanet28 K00.2

Related Diseases for Otodental Dysplasia

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

idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia10.2

Symptoms for Otodental Dysplasia

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Symptoms:

 49 (show all 25)
  • tooth shape anomaly
  • autosomal dominant inheritance
  • broad cheeks/cherub-like/cherubin face
  • long face
  • dental malocclusion
  • thickened/hypertrophic/fibromatous gingivae
  • taurodontia
  • anodontia/oligodontia/hypodontia
  • enamel anomaly
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • sensorineural deafness/hearing loss
  • micrognathia/retrognathia/micrognathism/retrognathism
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • coloboma of iris
  • heterochromia/mixed colouring of iris
  • microcornea
  • cataract/lens opacification
  • coloboma of the lens
  • retinoschisis/retinal/chorioretinal coloboma
  • anteverted nares/nostrils
  • long philtrum
  • high vaulted/narrow palate
  • supernumerary teeth/polyodontia
  • prominent/bat ears
  • pigmented naevi/naevus pigmentosus/lentigo

HPO human phenotypes related to Otodental Dysplasia:

(show all 32)
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 autosomal dominant inheritance HP:0000006
26 long face HP:0000276
27 long philtrum HP:0000343
28 sensorineural hearing impairment HP:0000407
29 anteverted nares HP:0000463
30 hypodontia HP:0000668
31 taurodontia HP:0000679
32 pulp stones HP:0003771

Drugs & Therapeutics for Otodental Dysplasia

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Drug clinical trials:

Search ClinicalTrials for Otodental Dysplasia

Search 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 24

Anatomical Context for Otodental Dysplasia

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MalaCards organs/tissues related to Otodental Dysplasia:

33
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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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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Compounds for genes affiliated with Otodental Dysplasia

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GO Terms for genes affiliated with Otodental Dysplasia

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Products for genes affiliated with Otodental Dysplasia

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

Sources for Otodental Dysplasia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet