ORPHA:100032
Hypocalcified amelogenesis imperfecta
Synonyms: Amelogenesis imperfecta type 3
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Status
- active
This disease is described under Amelogenesis imperfecta
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypocalcified amelogenesis imperfecta | Amelogenesis imperfecta type 3 |
| fr | Amélogenèse imparfaite hypocalcifiée | Amélogenèse imparfaite type 3 |
| de | Amelogenesis imperfecta, hypomineralisierte | Amelogenesis imperfecta Typ 3 |
| es | Amelogénesis imperfecta con hipocalcificación | |
| it | Amelogenesi imperfetta, tipo ipocalcificato | |
| nl | Hypogecalcificeerde amelogenesis imperfecta | = en |
| pt | Amelogénese imperfeita, tipo hipocalcificada | |
| pl | Wrodzony niedorozwój szkliwa typu niedojrzałego | Amelogenesis imperfecta typu 3 |
| cs | Hypokalficikovaná amelogenesis imperfecta | Amelogenesis imperfecta, typ 3 |
| uk | Гіпокальцифікований недосконалий амелогенез | Недосконалий амелогенез тип 3 |
| zh | 低钙性牙釉质发育不全 | 牙釉质发育不全3型 |
| tr | Hipokalsifiye amelogenez imperfekta | Amelogenesis imperfekta tip 3 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 130900 | BTNT | validated | |
| OMIM | 616221 | BTNT | validated | |
| OMIM | 617607 | BTNT | validated | |
| OMIM | 618386 | BTNT | validated | |
| ICD-10 | K00.5 | NTBT | attributed | validated |
| ICD-11 | LA30.6 | NTBT | index | validated |
| MONDO | 0968955 | E | validated | |
| MeSH | C562880 | E | validated | |
| UMLS | C0399376 | 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
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RELT | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13764 | ENSG00000054967 | 611211 | 11q13.4 | RELT TNF receptor | 30506946[PMID] |
| AMTN | Disease-causing germline mutation(s) in | Assessed | HGNC:33188 | ENSG00000187689 | 610912 | 4q13.3 | amelotin | 27412008[PMID] |
| ITGB6 | Disease-causing germline mutation(s) in | Assessed | HGNC:6161 | ENSG00000115221 | 147558 | 2q24.2 | integrin subunit beta 6 | 24319098[PMID] |
| SACK1H | Disease-causing germline mutation(s) in | Assessed | HGNC:24797 | ENSG00000180921 | 611927 | 8q24.3 | scaffolding CK1 anchoring protein H | 18252228[PMID] |
| SLC24A4 | Disease-causing germline mutation(s) in | Assessed | HGNC:10978 | ENSG00000140090 | 609840 | 14q32.12 | solute carrier family 24 member 4 | 23375655[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/100032
- This record as JSON: /data/d/100032.json