MCID: DNT050
MIFTS: 14

Dentin Dysplasia with Sclerotic Bones

Categories: Bone diseases, Oral diseases, Rare diseases

Aliases & Classifications for Dentin Dysplasia with Sclerotic Bones

MalaCards integrated aliases for Dentin Dysplasia with Sclerotic Bones:

Name: Dentin Dysplasia with Sclerotic Bones 58
Dentin Dysplasia Sclerotic Bones 54 74
Dentin Dysplasia-Sclerotic Bones Syndrome 60
Sclerotic Bones with Dentin Dysplasia 54

Characteristics:

Orphanet epidemiological data:

60
dentin dysplasia-sclerotic bones syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
dentin dysplasia with sclerotic bones:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare odontological diseases


External Ids:

OMIM 58 125440
MESH via Orphanet 46 C538213
ICD10 via Orphanet 35 K00.5
UMLS via Orphanet 75 C1852201
Orphanet 60 ORPHA99792
MedGen 43 C1852201
SNOMED-CT via HPO 70 109492001 263681008
UMLS 74 C1852201

Summaries for Dentin Dysplasia with Sclerotic Bones

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 99792Disease definitionDentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.Visit the Orphanet disease page for more resources.

MalaCards based summary : Dentin Dysplasia with Sclerotic Bones, is also known as dentin dysplasia sclerotic bones. Affiliated tissues include bone, and related phenotypes are cortical sclerosis and dentinogenesis imperfecta limited to primary teeth

Description from OMIM: 125440

Related Diseases for Dentin Dysplasia with Sclerotic Bones

Symptoms & Phenotypes for Dentin Dysplasia with Sclerotic Bones

Human phenotypes related to Dentin Dysplasia with Sclerotic Bones:

33
# Description HPO Frequency HPO Source Accession
1 cortical sclerosis 33 HP:0005652
2 dentinogenesis imperfecta limited to primary teeth 33 HP:0011060

Symptoms via clinical synopsis from OMIM:

58
Teeth:
radicular dentin dysplasia

Radiology:
dense long bones
dense maxillary and mandibular alveoli
narrow or occluded marrow spaces and thick cortices

Skel:
cortical sclerosis

Clinical features from OMIM:

125440

Drugs & Therapeutics for Dentin Dysplasia with Sclerotic Bones

Search Clinical Trials , NIH Clinical Center for Dentin Dysplasia with Sclerotic Bones

Genetic Tests for Dentin Dysplasia with Sclerotic Bones

Anatomical Context for Dentin Dysplasia with Sclerotic Bones

MalaCards organs/tissues related to Dentin Dysplasia with Sclerotic Bones:

42
Bone

Publications for Dentin Dysplasia with Sclerotic Bones

Variations for Dentin Dysplasia with Sclerotic Bones

Expression for Dentin Dysplasia with Sclerotic Bones

Search GEO for disease gene expression data for Dentin Dysplasia with Sclerotic Bones.

Pathways for Dentin Dysplasia with Sclerotic Bones

GO Terms for Dentin Dysplasia with Sclerotic Bones

Sources for Dentin Dysplasia with Sclerotic Bones

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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