ORPHA:100031
Hypoplastic amelogenesis imperfecta
Synonyms: Amelogenesis imperfecta type 1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, 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 | Hypoplastic amelogenesis imperfecta | Amelogenesis imperfecta type 1 |
| fr | Amélogenèse imparfaite hypoplasique | Amélogenèse imparfaite type 1 |
| de | Amelogenesis imperfecta, hypoplastische | Amelogenesis imperfecta Typ 1 |
| es | Amelogénesis imperfecta hipoplásica | |
| it | Amelogenesi imperfetta, tipo ipoplasico | |
| nl | Hypoplastische amelogenesis imperfecta | = en |
| pt | Amelogénese imperfeita, tipo hipoplástica | |
| pl | Hipoplastyczny wrodzony niedorozwój szkliwa | Amelogenesis imperfecta typu 1 |
| cs | Hypoplastická amelogenesis imperfecta | Amelogenesis imperfecta, typ 1 |
| uk | Гіпопластичний амелогенез недосконалий | Недосконалий амелогенез тип 1 |
| zh | 发育不良性牙釉质发育不全 | 牙釉质发育不全1型 |
| tr | Hipoplastik amelogenezis imperfekta | Amelogenesis imperfekta tip 1 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 104500 | BTNT | validated | |
| OMIM | 104530 | BTNT | validated | |
| OMIM | 204650 | BTNT | validated | |
| OMIM | 301201 | BTNT | validated | |
| OMIM | 616221 | BTNT | validated | |
| OMIM | 616270 | BTNT | validated | |
| OMIM | 617297 | BTNT | validated | |
| ICD-10 | K00.5 | NTBT | attributed | validated |
| ICD-11 | LA30.6 | NTBT | index | validated |
| MONDO | 0015047 | E | validated | |
| MeSH | C538240 | E | validated | |
| UMLS | C0399367 | E | validated | |
| GARD | 645 | 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
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACP4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:14376 | ENSG00000142513 | 606362 | 19q13.33 | acid phosphatase 4 | 27843125[PMID] |
| ITGB6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6161 | ENSG00000115221 | 147558 | 2q24.2 | integrin subunit beta 6 | 24305999[PMID] |
| AMBN | Disease-causing germline mutation(s) in | Assessed | HGNC:452 | ENSG00000178522 | 601259 | 4q13.3 | ameloblastin | 24858907[PMID] |
| ENAM | Disease-causing germline mutation(s) in | Assessed | HGNC:3344 | ENSG00000132464 | 606585 | 4q13.3 | enamelin | 11978766[PMID]_14684688[PMID] |
| LAMB3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6490 | ENSG00000196878 | 150310 | 1q32.2 | laminin subunit beta 3 | 23632796[PMID] |
| SP6 | Disease-causing germline mutation(s) in | Assessed | HGNC:14530 | ENSG00000189120 | 608613 | 17q21.32 | Sp6 transcription factor | 32167558[PMID]_33652941[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/100031
- This record as JSON: /data/d/100031.json