ORPHA:100033
Hypomaturation amelogenesis imperfecta
Synonyms: Amelogenesis imperfecta type 2
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive, X-linked dominant
- Status
- active
This disease is described under Amelogenesis imperfecta
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypomaturation amelogenesis imperfecta | Amelogenesis imperfecta type 2 |
| fr | Amélogenèse imparfaite hypomature | Amélogenèse imparfaite type 2 |
| de | Amelogenesis imperfecta, hypomaturierte | Amelogenesis imperfecta Typ 2 |
| es | Amelogénesis imperfecta tipo hipomaduración | |
| it | Amelogenesi imperfetta, tipo immaturo | |
| nl | Hypomaturatie amelogenesis imperfecta | = en |
| pt | Amelogénese imperfeita, tipo hipomaturação | |
| pl | Wrodzony niedorozwój szkliwa z niedojrzałością | Amelogenesis imperfecta typu 2 |
| cs | Hypomaturační forma amelogenesis imperfecta | Amelogenesis imperfecta, typ 2 |
| uk | Недосконалий амелогенез гіпоматуризації | Недосконалий амелогенез тип 2 |
| zh | 成熟不全性牙釉质发育不全 | 牙釉质发育不全2型 |
| tr | Hipomaturasyon amelogenez imperfekta | Amelogenesis imperfekta tip 2 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 204700 | BTNT | validated | |
| OMIM | 301200 | BTNT | validated | |
| OMIM | 612529 | BTNT | validated | |
| OMIM | 613211 | BTNT | validated | |
| OMIM | 614832 | BTNT | validated | |
| OMIM | 615887 | BTNT | validated | |
| OMIM | 617217 | BTNT | validated | |
| ICD-10 | K00.5 | NTBT | attributed | validated |
| ICD-11 | LA30.6 | NTBT | index | validated |
| MONDO | 0015048 | E | validated | |
| MeSH | C536606 | E | validated | |
| UMLS | C0399372 | E | validated | |
| GARD | 8349 | 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
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GPR68 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4519 | ENSG00000119714 | 601404 | 14q32.11 | G protein-coupled receptor 68 | 27693231[PMID] |
| ODAPH | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:26300 | ENSG00000174792 | 614829 | 4q21.1 | odontogenesis associated phosphoprotein | 22901946[PMID] |
| AMELX | Disease-causing germline mutation(s) in | Assessed | HGNC:461 | ENSG00000125363 | 300391 | Xp22.2 | amelogenin X-linked | 23251683[PMID] |
| KLK4 | Disease-causing germline mutation(s) in | Assessed | HGNC:6365 | ENSG00000167749 | 603767 | 19q13.41 | kallikrein related peptidase 4 | 21597265[PMID] |
| MMP20 | Disease-causing germline mutation(s) in | Assessed | HGNC:7167 | ENSG00000137674 | 604629 | 11q22.2 | matrix metallopeptidase 20 | 15744043[PMID] |
| SLC24A4 | Disease-causing germline mutation(s) in | Assessed | HGNC:10978 | ENSG00000140090 | 609840 | 14q32.12 | solute carrier family 24 member 4 | 24621671[PMID] |
| WDR72 | Disease-causing germline mutation(s) in | Assessed | HGNC:26790 | ENSG00000166415 | 613214 | 15q21.3 | WD repeat domain 72 | 19853237[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/100033
- This record as JSON: /data/d/100033.json