MCID: OTD001
MIFTS: 17

Otodental Dysplasia malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Otodental Dysplasia

About this section

Aliases & Descriptions for Otodental Dysplasia:

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


Classifications:



Summaries for Otodental Dysplasia

About this section
MalaCards based summary: Otodental Dysplasia, also known as 11q13.3 deletion syndrome, is related to otodental syndrome and ectodermal dysplasia, and has symptoms including gingival overgrowth, long face and full cheeks. An important gene associated with Otodental Dysplasia is OTDD (Otodental Dysplasia Chromosome Deletion Syndrome). Affiliated tissues include eye.

Related Diseases for Otodental Dysplasia

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1otodental syndrome10.4
2ectodermal dysplasia10.2

Symptoms for Otodental Dysplasia

About this section

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

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Otodental Dysplasia

Genetic Tests for Otodental Dysplasia

About this section

Genetic tests related to Otodental Dysplasia:

id Genetic test Affiliating Genes
1 Otodental Dysplasia22 24

Anatomical Context for Otodental Dysplasia

About this section

MalaCards organs/tissues related to Otodental Dysplasia:

33
Eye

Animal Models for Otodental Dysplasia or affiliated genes

About this section

Publications for Otodental Dysplasia

About this section

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

About this section

Expression for genes affiliated with Otodental Dysplasia

About this section
Search GEO for disease gene expression data for Otodental Dysplasia.

Pathways for genes affiliated with Otodental Dysplasia

About this section

GO Terms for genes affiliated with Otodental Dysplasia

About this section

Sources for Otodental Dysplasia

About this section
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