Hereditary gingival fibromatosis
Synonyms: Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia · Hereditary gingival hyperplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary gingival fibromatosis | Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia · Hereditary gingival hyperplasia |
| fr | Fibromatose gingivale héréditaire | Fibromatose gingivale autosomique dominante · Hyperplasie gingivale autosomique dominante · Hyperplasie gingivale héréditaire |
| de | Gingivale Fibromatose, hereditäre | Gingiva-Fibromatose, autosomal-dominante · Gingivahyperplasie, autosomal-dominante · Gingivahyperplasie, hereditäre |
| es | Fibromatosis gingival hereditaria | Fibromatosis gingival autosómica dominante · Hiperplasia gingival autosómica dominante · Hiperplasia gingival hereditaria |
| it | Fibromatosi gengivale ereditaria | Fibromatosi gengivale autosomica dominante · Iperplasia gengivale autosomica dominante · Iperplasia gengivale ereditaria |
| nl | Erfelijke gingivale fibromatose | Autosomaal dominante gingivafibromatose · Autosomaal dominante hyperplasie van gingiva · Erfelijke hyperplasie van tandvlees |
| pt | Fibromatose gengival hereditária | Fibromatose gengival tipo dominante |
| pl | Dziedziczna włókniakowatość dziąseł | Autosomalna dominująca włókniakowatość dziąseł · Autosomalny dominujący przerost dziąseł · Dziedziczny przerost dziąseł |
| cs | Hereditární fibromatóza gingivy | Hereditární gingivální hyperplázie · Autozomálně dominantní fibromatóza gingivy · Autozomálně dominantní gingivální hyperplázie |
| uk | Спадковий фіброматоз ясен | Аутосомно-домінантний фіброматоз ясен · Аутосомно-домінантна гіперплазія ясен · Спадкова гіперплазія ясен |
| zh | 遗传性牙龈纤维瘤病 | 常染色体显性遗传牙龈纤维瘤病 |
| tr | Kalıtsal dişeti fibromatozu | Kalıtsal dişeti hiperplazisi · Otozomal dominant dişeti hiperplazisi · Otozomal dominant gingival fibromatoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 135300 | E | validated | |
| OMIM | 605544 | BTNT | validated | |
| OMIM | 609955 | BTNT | validated | |
| OMIM | 611010 | BTNT | validated | |
| OMIM | 617626 | BTNT | validated | |
| ICD-10 | K06.1 | NTBT | attributed | validated |
| ICD-11 | DA0B.Y | NTBT | index | validated |
| MONDO | 0016070 | E | validated | |
| MeSH | C562884 | E | validated | |
| UMLS | C0399440 | E | validated | |
| MedDRA | 10088210 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:420755Rare genetic odontal or periodontal disorder
rare genetic diseases - ORPHA:164001Rare odontal or periodontal disorder
rare odontological diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GINGF2 | Candidate gene tested in | Not yet assessed | HGNC:14252 | 5q13-q22 | gingival fibromatosis, hereditary, 2 | 11386754[PMID] | ||
| REST | Disease-causing germline mutation(s) in | Assessed | HGNC:9966 | ENSG00000084093 | 600571 | 4q12 | RE1 silencing transcription factor | 28686854[PMID] |
| SOS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11187 | ENSG00000115904 | 182530 | 2p22.1 | SOS Ras/Rac guanine nucleotide exchange factor 1 | 11868160[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 26818898[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000169 | Gingival fibromatosis | |
| HP:0000212 | Gingival overgrowth | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2024
- This record as JSON: /data/d/2024.json