ORPHA:166260
Dentinogenesis imperfecta type 2
Synonyms: Capdepont teeth · DGI-2 · DI-2 · Dentinogenesis imperfecta, Shields type 2
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dentinogenesis imperfecta type 2 | Capdepont teeth · DGI-2 · DI-2 · Dentinogenesis imperfecta, Shields type 2 |
| fr | Dentinogenèse imparfaite type 2 | DGI-2 · DI-2 · Dentinogenèse imparfaite type Shields 2 · Dysplasie de Capdepont |
| de | Dentinogenesis imperfecta Typ 2 | DGI-2 · DI-2 · Dentinogenesis imperfecta Typ Shields II |
| es | Dentinogénesis imperfecta tipo 2 | DGI-2 · DI-2 · Dentinogénesis imperfecta Shields tipo 2 · Dentinogénesis imperfecta de Shields tipo 2 · Dientes de Capdepont |
| it | Dentinogenesi imperfetta, tipo 2 | DI-2 · Denti di Capdepont · DGI-2 |
| nl | Dentinogenesis imperfecta type 2 | Capdepont-tanden · DGI-2 · DI-2 · Dentinogenesis imperfecta, Shields-type 2 |
| pt | Dentinogénese imperfeita, tipo 2 | |
| pl | Dentinogenesis imperfecta typu 2 | Dentinogenesis imperfecta, Shieldsa typu 2 · DGI-2 · DI-2 · Zęby Capdeponta |
| cs | Dentinogenesis imperfecta, typ 2 | Capdepontovy zuby · DGI-2 · DI-2 · Dentinogenesis imperfecta, Shieldsův typ II |
| uk | Недосконалий дентиногенез, тип 2 | Капдепонтові зуби · Недосконалий дентиногенез, Щитки типу 2 · DGI-2 · DI-2 |
| zh | 牙本质发育不全2型 | 牙本质发育不全Shields2型 |
| tr | Dentinogenesis imperfekta tip 2 | DI-2 · DGI-2 · Capdepont dişleri · Dantinojenez bozukluğu, Shields tipi 2 |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 125490 | E | validated | |
| OMIM | 605594 | BTNT | validated | |
| ICD-10 | K00.5 | NTBT | attributed | validated |
| ICD-11 | LA30.8 | NTBT | index | validated |
| MONDO | 0007441 | E | validated | |
| UMLS | C2973527 | E | validated | |
| GARD | 12796 | 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:49042Dentinogenesis imperfecta
rare genetic diseases; rare odontological diseases
No children.
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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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 14.6 / 100 000 | Europe | Value and class | Validated | [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/166260
- This record as JSON: /data/d/166260.json