ORPHA:99789
Dentin dysplasia type I
Synonyms: DD-I · DTDP1 · Radicular dentin dysplasia
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dentin dysplasia type I | DD-I · DTDP1 · Radicular dentin dysplasia |
| fr | Dysplasie de la dentine type 1 | DD-I · DTDP1 · Dysplasie dentinaire radiculaire · Dysplasie radiculaire de la dentine |
| de | Dentindysplasie Typ 1 | DD-I · DTDP1 · Dentindysplasie, radikuläre |
| es | Displasia de dentina tipo 1 | |
| it | Displasia della dentina, tipo I | DD-I · DTDP1 · Displasia radicolare della dentina |
| nl | Dentinedysplasie type I | DD-I · DTDP1 · Radiculaire dentinedysplasie |
| pt | Displasia da dentina, tipo I | |
| pl | Dysplazja zębiny typu I | DD-I · DTDP1 · Dysplazja zębiny korzeni |
| cs | Dentinová dysplázie, typ I | DD-I · DTDP1 · Radikulární dentinová dysplázie |
| uk | Дисплазія дентину, тип I | DD-І · DTDP1 · Радикулярна дисплазія дентину |
| zh | 牙本质发育异常1型 | 根部牙本质发育不良 |
| tr | Dentin displazisi tip I | DD-I · DTDP1 · Radiküler dentin displazisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 621440 | BTNT | validated | |
| OMIM | 621559 | BTNT | validated | |
| ICD-10 | K00.5 | NTBT | attributed | validated |
| ICD-11 | LA30.7 | NTBT | index | validated |
| MONDO | 0007436 | E | validated | |
| MeSH | C538215 | E | validated | |
| UMLS | C0399379 | E | validated | |
| GARD | 1807 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:1653Dentin dysplasia
rare genetic diseases; rare odontological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| VPS4B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10895 | ENSG00000119541 | 609983 | 18q21.33 | vacuolar protein sorting 4 homolog B | 27247351[PMID] |
| SSUH2 | Disease-causing germline mutation(s) in | Assessed | HGNC:24809 | ENSG00000125046 | 617479 | 3p25.3 | ssu-2 homolog | 27680507[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | 17452557[PMID]_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99789
- This record as JSON: /data/d/99789.json