Atypical dentin dysplasia due to SMOC2 deficiency
Synonyms: Dentin dysplasia type 1 with microdontia and shape anomalies
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, dentin dysplasia disease characterized by extreme microdontia, oligodontia, and abnormal tooth shape (including globular teeth, incisal notches and double tooth formation). Short roots with a variable pulp phenotype (including taurodontia and flame-shaped pulp), enamel hypoplasia and anterior open bite may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atypical dentin dysplasia due to SMOC2 deficiency | Dentin dysplasia type 1 with microdontia and shape anomalies |
| fr | Dysplasie de la dentine atypique par déficit en SMOC2 | Dysplasie de la dentine type 1 avec microdontie et anomalies de forme |
| de | Dentindysplasie, atypische, durch SMOC2-Mangel | Dentindysplasie Typ 1 mit Mikrodontie und Formanomalien |
| es | Displasia de dentina atípica por deficiencia de SMOC2 | Displasia de dentina tipo 1 con microdontia y anomalías en la forma |
| it | Displasia atipica della dentina da deficit di SMOC2 | Displasia della dentina tipo 1 con microdontia e anomalie nella forma |
| nl | Atypische dentinedysplasie door SMOC2-deficiëntie | Dentinedysplasie type 1 met microdontie en vormanomalieën |
| pt | Displasia da dentina, atipica, devido à deficiência de SMOC2 | Displasia da dentina, tipo 1, com microdontia e anomalias da forma |
| pl | Atypowa dysplazja zębiny z powodu niedoboru SMOC2 | Dysplazja zębiny typu 1 z mikrodoncją i nieprawidłowym kształtem zębów |
| cs | Atypická dysplázie dentinu způsobená deficitem SMOC2 | Dysplázie dentinu typ 1 s mikrodoncií a tvarovými odchylkami |
| uk | Атипова дисплазія дентину, зумовлена дефіцитом SMOC2 | Дисплазія дентину 1 типу з мікродонтією та аномаліями форми |
| zh | SMOC2基因缺陷所致非典型牙本质发育不良 | 牙本质发育不良1型伴牙过小和畸形 |
| tr | SMOC2 eksikliğine bağlı atipik dentin displazisi | Mikrodonti ve şekil bozuklukları ile seyreden dentin displazisi tip 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 125400 | NTBT | validated | |
| ICD-10 | K00.5 | NTBT | attributed | validated |
| MONDO | 0017819 | E | validated | |
| UMLS | C5190802 | 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:1653Dentin dysplasia
rare genetic diseases; rare odontological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SMOC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:20323 | ENSG00000112562 | 607223 | 6q27 | SPARC related modular calcium binding 2 | 22152679[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 15243476[PMID]_22152679[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314721
- This record as JSON: /data/d/314721.json