OOD
MCID: OTD001
MIFTS: 24

Otodental Dysplasia (OOD) malady

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

Aliases & Classifications for Otodental Dysplasia

Aliases & Descriptions for Otodental Dysplasia:

Name: Otodental Dysplasia 54 50 24 56 29 13 69
Oculootodental Syndrome 56 69
11q13.3 Deletion Syndrome 24
Otodental Syndrome 56
Globodontia 56
Ood 56

Characteristics:

Orphanet epidemiological data:

56
otodental syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;
oculootodental syndrome
Prevalence: <1/1000000 (Worldwide);

HPO:

32
otodental dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 166750
ICD10 via Orphanet 34 K00.2

Summaries for Otodental Dysplasia

OMIM : 54 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 cockayne syndrome, and has symptoms including sensorineural hearing impairment, anteverted nares and long philtrum. An important gene associated with Otodental Dysplasia is FADD (Fas Associated Via Death Domain), and among its related pathways/superpathways 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

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

id Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 9.9
2 cockayne syndrome 9.8 FADD FGF3
3 fitzsimmons-guilbert syndrome 9.5 FADD FGF3 OTDD

Symptoms & Phenotypes for Otodental Dysplasia

Symptoms by clinical synopsis from OMIM:

166750

Clinical features from OMIM:

166750

Human phenotypes related to Otodental Dysplasia:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 anteverted nares 32 HP:0000463
3 long philtrum 32 HP:0000343
4 long face 32 HP:0000276
5 taurodontia 32 HP:0000679
6 hypodontia 32 HP:0000668
7 coloboma 32 HP:0000589
8 pulp stones 32 HP:0003771

Drugs & Therapeutics for Otodental Dysplasia

Search Clinical Trials , NIH Clinical Center for Otodental Dysplasia

Genetic Tests for Otodental Dysplasia

Genetic tests related to Otodental Dysplasia:

id Genetic test Affiliating Genes
1 Otodental Dysplasia 29 24

Anatomical Context for Otodental Dysplasia

MalaCards organs/tissues related to Otodental Dysplasia:

39
Eye

Publications for Otodental Dysplasia

Articles related to Otodental Dysplasia:

id Title Authors Year
1
Otodental dysplasia: a five year study. ( 7227680 )
1981
2
Otodental dysplasia. ( 1218202 )
1975
3
Otodental dysplasia: a "new" ectodermal dysplasia. ( 1175318 )
1975

Variations for Otodental Dysplasia

Copy number variations for Otodental Dysplasia from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 57119 11 63100000 76700000 Deletion CTTN oto-dental syndrome
2 57120 11 63100000 76700000 Deletion FADD oto-dental syndrome
3 57121 11 63100000 76700000 Deletion FGF3 oto-dental syndrome
4 57123 11 63100000 76700000 Deletion ORAOV1 oto-dental syndrome
5 57124 11 63100000 76700000 Deletion PPFIA1 oto-dental syndrome

Expression for Otodental Dysplasia

Search GEO for disease gene expression data for Otodental Dysplasia.

Pathways for Otodental Dysplasia

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

id Super pathways Score Top Affiliating Genes
1 11.22 FADD FGF3

GO Terms for Otodental Dysplasia

Sources for Otodental Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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