MCID: ODN020
MIFTS: 19

Odontoma-Dysphagia Syndrome

Categories: Fetal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Odontoma-Dysphagia Syndrome

MalaCards integrated aliases for Odontoma-Dysphagia Syndrome:

Name: Odontoma-Dysphagia Syndrome 57
Odontoma Dysphagia Syndrome 20 70
Boder Syndrome 20 58
Odontomatosis-Aortae Esophagus Stenosis Syndrome 58
Odontomatosis with Dysphagia 20

Characteristics:

Orphanet epidemiological data:

58
odontomatosis-aortae esophagus stenosis syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
odontoma-dysphagia syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

OMIM® 57 164330
UMLS via Orphanet 71 C1834013
Orphanet 58 ORPHA2724
MedGen 41 C1834013
UMLS 70 C1834013

Summaries for Odontoma-Dysphagia Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2724 Definition Odontoma- dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia. Epidemiology Less than ten cases have been reported so far. Clinical description Three of the reported patients manifested multiple odontomas. Occasionally, cardiac (stenosis of the intrathoracic descendent aorta, interstitial myocarditis), renal (pyelonephritis) and hepatic (hepatic sclerosis) involvement has been described. Etiology Hypertrophy and dysmotility of the esophageal smooth muscles is suggested to have causative role for dysphagia. Genetic counseling In several cases, autosomal dominant inheritance has been suspected. Currently, there are no genes associated with this condition.

MalaCards based summary : Odontoma-Dysphagia Syndrome, also known as odontoma dysphagia syndrome, is related to tooth agenesis and odontoma. Affiliated tissues include heart and smooth muscle, and related phenotypes are dysphagia and odontoma

Wikipedia : 73 Odontoma dysphagia syndrome (Bader syndrome) is a rare syndrome (<10 cases reported to date) first... more...

More information from OMIM: 164330

Related Diseases for Odontoma-Dysphagia Syndrome

Diseases related to Odontoma-Dysphagia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 tooth agenesis 10.1
2 odontoma 10.1
3 dysphagia 10.1

Symptoms & Phenotypes for Odontoma-Dysphagia Syndrome

Human phenotypes related to Odontoma-Dysphagia Syndrome:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002015
2 odontoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0011068
3 hepatic failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0001399
4 atherosclerosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002621
5 myocarditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012819
6 malformation of the heart and great vessels 58 Occasional (29-5%)
7 abnormal esophagus morphology 31 HP:0002031

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
G I:
dysphagia

Lab:
esophageal smooth muscle hypertrophy

Mouth:
odontoma

Clinical features from OMIM®:

164330 (Updated 05-Apr-2021)

Drugs & Therapeutics for Odontoma-Dysphagia Syndrome

Search Clinical Trials , NIH Clinical Center for Odontoma-Dysphagia Syndrome

Genetic Tests for Odontoma-Dysphagia Syndrome

Anatomical Context for Odontoma-Dysphagia Syndrome

MalaCards organs/tissues related to Odontoma-Dysphagia Syndrome:

40
Heart, Smooth Muscle

Publications for Odontoma-Dysphagia Syndrome

Articles related to Odontoma-Dysphagia Syndrome:

# Title Authors PMID Year
1
[Multiple odontomas (Odontomatosis) and dysphagia in father and son--a syndromic connection? (author's transl)]. 57
4424740 1974
2
The original family revisited after 37 years: odontoma-dysphagia syndrome is most likely caused by a microduplication of chromosome 11q13.3, including the FGF3 and FGF4 genes. 61
22297612 2013

Variations for Odontoma-Dysphagia Syndrome

Expression for Odontoma-Dysphagia Syndrome

Search GEO for disease gene expression data for Odontoma-Dysphagia Syndrome.

Pathways for Odontoma-Dysphagia Syndrome

GO Terms for Odontoma-Dysphagia Syndrome

Sources for Odontoma-Dysphagia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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