ORPHA:49042
Dentinogenesis imperfecta
Synonyms: DGI · DGI without OI · DI · Dentinogenesis imperfecta without osteogenesis imperfecta · Non-syndromic DGI · Non-syndromic dentinogenesis imperfecta · Opalescent teeth without OI · Opalescent teeth without osteogenesis imperfecta
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dentinogenesis imperfecta | DGI · DGI without OI · DI · Dentinogenesis imperfecta without osteogenesis imperfecta · Non-syndromic DGI · Non-syndromic dentinogenesis imperfecta · Opalescent teeth without OI · Opalescent teeth without osteogenesis imperfecta |
| fr | Dentinogenèse imparfaite | DGI · DGI non syndromique · DGI sans OI · DI · Dentinogenèse imparfaite non syndromique · Dentinogenèse imparfaite sans ostéogenèse imparfaite · Dents opalescentes sans OI |
| de | Dentinogenesis imperfecta | DGI · DGI ohne OI · DI · Dentinogenesis imperfecta, nicht-syndromale · Opaleszierende Zähne ohne Osteogenesis imperfecta |
| es | Dentinogénesis imperfecta | DGI · DGI no sindrómica · DGI sin OI · DI · Dentinogénesis imperfecta no sindrómica · Dentinogénesis imperfecta sin osteogénesis imperfecta · Dientes opalescentes sin OI · Dientes opalescentes sin osteogénesis imperfecta |
| it | Dentinogenesi imperfetta | DGI · DGI non sindromica · DGI senza OI · DI · Denti opalescenti senza OI · Denti opalescenti senza osteogenesi imperfetta · Dentinogenesi imperfetta non sindromica · Dentinogenesi imperfetta senza osteogenesi imperfetta |
| nl | Dentinogenesis imperfecta | Opalescerende tanden zonder osteogenesis imperfecta · DGI · DGI zonder OI · DI · Dentinogenesis imperfecta zonder osteogenesis imperfecta · Niet-syndromale DGI · Niet-syndromale dentinogenesis imperfecta · Opalescerende tanden zonder OI |
| pt | Dentinogenesis imperfecta | DGI · DGI não sindrómica · DGI sem OI · DI · Dentinogenesis imperfecta sem osteogenesis imperfecta · Dentinogénese imperfeita |
| pl | Wrodzony niedorozwój zębiny | Dentinogenesis imperfecta bez wrodzonej łamliwości kości · DGI · DGI bez OI · DI · Niesyndromiczna · Niesyndromiczny wrodzony niedorozwój zębiny · Opalizujące zęby bez OI · Opalizujące zęby bez osteogenesis imperfecta |
| cs | Dentinogenesis imperfecta | DGI · DGI bez OI · DI · Dentinogenesis imperfecta bez osteogenesis imperfecta · Nesyndromická DGI · Nesyndromická dentinogenesis imperfecta · Opaleskující zuby bez OI · Opaleskující zuby bez osteogenesis imperfecta · Opaleskující dentin · Dentinogenesis imperfecta, typ II |
| uk | Недосконалий дентиногенез | Недосконалий дентиногенез без недосконалого остеогенезу · DGI · DGI без ОІ · DI · Несиндромний недосконалий дентиногенез · Несиндромна DGI · Опалесцентні зуби без ОІ · Опалесцентні зуби без недосконалого остеогенезу |
| zh | 牙本质发育不全 | 无成骨不全性牙本质发育不全 |
| tr | Dentinogenezis imperfekta | DI · DGI · OI oile seyretmeyen DGI · Sendromik olmayan DGI · OI ile seyretmeyen opelesan dişler · Sendromik olmayan dentinogenezis imperfekta · Osteogenezis imperfekta olmayan opelesan dişler · Osteogenezis imperfekta ile seyretmeyen dentinogenezis imperfekta |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | K00.5 | NTBT | inclusion | validated |
| ICD-11 | LA30.8 | E | specific | validated |
| MONDO | 0018849 | E | validated | |
| MeSH | D003811 | E | validated | |
| UMLS | C0011436 | E | validated | |
| GARD | 6258 | E | validated | |
| MedDRA | 10054013 | 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:167759Hereditary dentin defect
rare genetic diseases; rare odontological diseases
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Genes
0 direct · 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| DSPP | ORPHA:166260Dentinogenesis imperfecta type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3054 | ENSG00000152591 | 125485 | 4q22.1 | dentin sialophosphoprotein | |
| DSPP | ORPHA:166265Dentinogenesis imperfecta type 3 | 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 | 14.5 / 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
21 annotations · validated 2020-02-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006486 | Abnormality of the dental root | |
| HP:0006350 | Obliteration of the pulp chamber | |
| Frequent (79-30%) | ||
| HP:0010299 | Abnormality of dentin | |
| HP:0006479 | Abnormality of the dental pulp | |
| HP:0025124 | Fragile teeth | |
| HP:0006282 | Generalized hypoplasia of dental enamel | |
| HP:0000683 | Grayish enamel | |
| HP:0011084 | Hypocalcification of dental enamel | |
| HP:0001382 | Joint hypermobility | |
| HP:0000694 | Odontodysplasia | |
| HP:0006286 | Yellow-brown discoloration of the teeth | |
| Occasional (29-5%) | ||
| HP:0000978 | Bruising susceptibility | |
| HP:0006094 | Finger joint hypermobility | |
| HP:0010485 | Hyperextensibility at elbow | |
| HP:0045086 | Knee joint hypermobility | |
| HP:0006335 | Persistence of primary teeth | |
| HP:0001592 | Selective tooth agenesis | |
| HP:0006336 | Short dental roots | |
| Very rare (<4-1%) | ||
| HP:0000592 | Blue sclerae | |
| HP:0000365 | Hearing impairment | |
| HP:0003010 | Prolonged bleeding time | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 30964718[PMID]_30134932[PMID]_31284784[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/49042
- This record as JSON: /data/d/49042.json