ORPHA:100034
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Synonyms: Amelogenesis imperfecta type 4
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Status
- active
This disease is described under Amelogenesis imperfecta
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | Amelogenesis imperfecta type 4 |
| fr | Amélogenèse imparfaite hypomature-hypoplasique avec taurodontisme | Amélogenèse imparfaite type 4 |
| de | Amelogenesis imperfecta, hypomaturiert-hypoplastische, mit Taurodontismus | Amelogenesis imperfecta Typ 4 |
| es | Amelogénesis imperfecta hipomineralización-hipoplasia con taurodontismo | |
| it | Amelogenesi imperfetta immatura-ipoplasica associata a taurodontia | |
| nl | Hypomaturatie-hypoplastische amelogenesis imperfecta met taurodontie | = en |
| pt | Amelogénese imperfeita, hipomaturação-hipoplástica com taurodontia | |
| pl | Niedojrzało-hipoplastyczny typ wrodzonego niedorozwoju szkliwa z taurodontyzmem | Amelogenesis imperfecta typu 4 |
| cs | Hypomaturačně-hypoplastická amelogenesis imperfecta s taurodontismem | Amelogenesis imperfecta, typ 4 |
| uk | Гіпоматураційно-гіпопластичний недосконалий амелогенез з тауродонтизмом | Недосконалий амелогенез, тип 4 |
| zh | 成熟不全-发育不良性牙釉质发育不全伴长冠牙 | 牙釉质发育不全4型 |
| tr | Taurodontizm ile seyreden hipomaturasyon-hipoplastik amelogenez imperfekta | Amelogenesis imperfekta tip 4 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 104510 | E | validated | |
| ICD-10 | K00.5 | NTBT | attributed | validated |
| ICD-11 | LA30.6 | NTBT | index | validated |
| MONDO | 0007093 | E | validated | |
| UMLS | C0399373 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:88661Amelogenesis imperfecta
rare genetic diseases; rare odontological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DLX3 | Disease-causing germline mutation(s) in | Assessed | HGNC:2916 | ENSG00000064195 | 600525 | 17q21.33 | distal-less homeobox 3 | 15666299[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100034
- This record as JSON: /data/d/100034.json