Dentin dysplasia
Synonyms: DD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dentin dysplasia | DD |
| fr | Dysplasie de la dentine | DD · Dysplasie dentinaire |
| de | Dentindysplasie | = en |
| es | Displasia de la dentina | = en |
| it | Displasia della dentina | = en |
| nl | Dentinedysplasie | = en |
| pt | Displasia da dentina | |
| pl | Dysplazja zębiny | = en |
| cs | Dysplázie dentinu | = en |
| uk | Дисплазія дентину | = en |
| zh | 牙本质发育异常 | = en |
| tr | Dentin displazisi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 125400 | BTNT | validated | |
| OMIM | 125420 | BTNT | validated | |
| ICD-10 | K00.5 | NTBT | inclusion | validated |
| ICD-11 | LA30.7 | E | specific | validated |
| MONDO | 0015613 | E | validated | |
| MeSH | D003805 | E | validated | |
| UMLS | C0011430 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:167759Hereditary dentin defect
rare genetic diseases; rare odontological diseases
Genes
0 direct · 4 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| VPS4B | ORPHA:99789Dentin dysplasia type I | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10895 | ENSG00000119541 | 609983 | 18q21.33 | vacuolar protein sorting 4 homolog B | 27247351[PMID] |
| DSPP | ORPHA:99791Dentin dysplasia type II | Disease-causing germline mutation(s) in | Assessed | HGNC:3054 | ENSG00000152591 | 125485 | 4q22.1 | dentin sialophosphoprotein | |
| SMOC2 | ORPHA:314721Atypical dentin dysplasia due to SMOC2 deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:20323 | ENSG00000112562 | 607223 | 6q27 | SPARC related modular calcium binding 2 | 22152679[PMID] |
| SSUH2 | ORPHA:99789Dentin dysplasia type I | Disease-causing germline mutation(s) in | Assessed | HGNC:24809 | ENSG00000125046 | 617479 | 3p25.3 | ssu-2 homolog | 27680507[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0011001 | Increased bone mineral density | |
| Frequent (79-30%) | ||
| HP:0100777 | Exostoses | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1653
- This record as JSON: /data/d/1653.json