ORPHA:99791
Dentin dysplasia type II
Synonyms: DD-II · DTDP2
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Status
- active
Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dentin dysplasia type II | DD-II · DTDP2 |
| fr | Dysplasie de la dentine type II | DD-II · DTDP2 · Dysplasie dentinaire type II |
| de | Dentindysplasie Typ 2 | DTDP2 |
| es | Displasia de la dentina tipo 2 | |
| it | Displasia della dentina, tipo II | |
| nl | Dentinedysplasie type II | = en |
| pt | Displasia da dentina, tipo II | |
| pl | Dysplazja zębiny typu II | = en |
| cs | Dentinová dysplázie, typ II | = en |
| uk | Дисплазія дентину, тип II | = en |
| zh | 牙本质发育异常2型 | DTDP2 |
| tr | Dental displazi tip II | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 125420 | E | validated | |
| ICD-10 | K00.5 | NTBT | attributed | validated |
| ICD-11 | LA30.7 | NTBT | index | validated |
| MONDO | 0007437 | E | validated | |
| UMLS | C0399380 | E | validated | |
| GARD | 1806 | 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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DSPP | Disease-causing germline mutation(s) in | Assessed | HGNC:3054 | ENSG00000152591 | 125485 | 4q22.1 | dentin sialophosphoprotein |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 families | Worldwide | Family(ies) | Validated | 10397672[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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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/99791
- This record as JSON: /data/d/99791.json