MCID: DNT050
MIFTS: 15

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 57
Dentin Dysplasia Sclerotic Bones 53 73
Dentin Dysplasia-Sclerotic Bones Syndrome 59
Sclerotic Bones with Dentin Dysplasia 53

Characteristics:

Orphanet epidemiological data:

59
dentin dysplasia-sclerotic bones syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
dentin dysplasia with sclerotic bones:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare odontological diseases


External Ids:

OMIM 57 125440
Orphanet 59 ORPHA99792
UMLS via Orphanet 74 C1852201
ICD10 via Orphanet 34 K00.5
MESH via Orphanet 45 C538213
MedGen 42 C1852201
SNOMED-CT via HPO 69 263681008 109492001
UMLS 73 C1852201

Summaries for Dentin Dysplasia with Sclerotic Bones

NIH Rare Diseases : 53 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Dentin Dysplasia with Sclerotic Bones:

32
# Description HPO Frequency HPO Source Accession
1 cortical sclerosis 32 HP:0005652
2 dentinogenesis imperfecta limited to primary teeth 32 HP:0011060

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:

41
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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