ORPHA:93277
Monostotic fibrous dysplasia
Synonyms: Jaffe-Lichtenstein disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Status
- active
This disease is described under Fibrous dysplasia of bone
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Monostotic fibrous dysplasia | Jaffe-Lichtenstein disease |
| fr | Dysplasie fibreuse monostotique | Maladie de Jaffe-Lichtenstein |
| de | Monostotische fibröse Dysplasie | Jaffe-Lichtenstein-Syndrom |
| es | Displasia fibrosa monostótica | Enfermedad de Jaffe-Lichtenstein |
| it | Displasia fibrosa monostotica | Malattia di Jaffe-Lichtenstein |
| nl | Monostotische fibreuze dysplasie | Ziekte van Jaffe-Lichtenstein |
| pt | Displasia fibrosa monostótica | |
| pl | Dysplazja włóknista jednoogniskowa | Choroba Jaffe'a i Lichtensteina |
| cs | Monoostotická forma fibrózní dysplázie kostí | Jaffé-Lichtensteinova nemoc |
| uk | Моностотична фіброзна дисплазія | Хвороба Яффе-Ліхтенштейна |
| zh | 单骨纤维异常增殖症 | Jaffe-Lichtenstein病 |
| tr | Monostotik fibröz displazi | Jaffe-Lichtenstein hastalığı |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M85.0 | E | specific | validated |
| ICD-11 | FB80.0 | NTBT | index | validated |
| MONDO | 0019665 | E | validated | |
| MeSH | D005358 | E | validated | |
| UMLS | C0016064 | 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:249Fibrous dysplasia of bone
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GNAS | Disease-causing somatic mutation(s) in | Assessed | HGNC:4392 | ENSG00000087460 | 139320 | 20q13.32 | GNAS complex locus | 10535539[PMID]_10646121[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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93277
- This record as JSON: /data/d/93277.json