ORPHA:337
Fibrodysplasia ossificans progressiva
Synonyms: FOP · Myositis ossificans progressiva · Stone man syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Childhood
- Status
- active
Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fibrodysplasia ossificans progressiva | FOP · Myositis ossificans progressiva · Stone man syndrome |
| fr | Fibrodysplasie ossifiante progressive | FOP · Maladie de l'homme de pierre · Myosite ossifiante progressive |
| de | Fibrodysplasia ossificans progressiva | FOP · Myositis ossificans progressiva · Münchmeyer-Syndrom |
| es | Fibrodisplasia osificante progresiva | Enfermedad del hombre de piedra · Miositis osificante progresiva |
| it | Fibrodisplasia ossificante progressiva | FOP · Malattia dell'uomo di pietra · Miosite ossificante progressiva |
| nl | Progressieve ossificerende fibrodysplasie | Fibrodysplasia ossificans progressiva (FOP) · Myositis ossificans progressiva · Stenen man syndroom |
| pt | Fibrodisplasia ossificante progressiva | FOP · Miosite ossificante progressiva |
| pl | Postępujące kostniejące zapalenie mięśni | Człowiek z kamienia · FOP |
| cs | Fibrodysplasia ossificans progressiva | FOP · Myositis ossificans progressiva · Nemoc zkamenělých lidí |
| uk | Прогресуюча фібродисплазія кісткової тканини | FOP · Прогресуючий міозит кісток · Синдром камяної людини |
| zh | 进行性骨化性纤维发育不全 | 进行性骨化性肌炎 |
| tr | Fibrodisplazi ossifikans progressiva | FOP · Taş adam sendromu · Miyozit ossificans progressiva |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 135100 | E | validated | |
| ICD-10 | M61.1 | E | specific | validated |
| ICD-11 | FB31.1 | E | specific | validated |
| MONDO | 0007606 | E | validated | |
| MeSH | D009221 | E | validated | |
| UMLS | C0016037 | E | validated | |
| GARD | 6445 | E | validated | |
| MedDRA | 10068715 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:183484Genetic subcutaneous tissue disorder
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:93450Primary bone dysplasia with disorganized development of skeletal components
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:364531Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:280373Rare pediatric systemic disease
rare systemic or rheumatologic diseases of childhood - ORPHA:182222Rare systemic disease
rare systemic and rheumatological diseases - ORPHA:79382Subcutaneous tissue disease
rare skin diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACVR1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:171 | ENSG00000115170 | 102576 | 2q24.1 | activin A receptor type 1 | 23011467[PMID] |
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Prevalence and incidence
7 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.05 / 100 000 | Worldwide | Value and class | Validated | 22133093[PMID]_[EXPERT] |
| Point prevalence | <1 / 1 000 000 | 0.061 / 100 000 | United Kingdom | Value and class | Validated | 7069743[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.087 / 100 000 | Spain | Value and class | Validated | 22796417[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.036 / 100 000 | Spain | Value and class | Validated | 22796417[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.078 / 100 000 | Europe | Value and class | Validated | ORPHANET_22796417[PMID]_28666455[PMID]_7069743[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.136 / 100 000 | France | Value and class | Validated | 28666455[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.085 / 100 000 | United States | Value and class | Validated | 34353327[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.
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HPO phenotypes
35 annotations · validated 2024-04-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0011986 | Ectopic ossification | |
| Very frequent (99-80%) | ||
| HP:0001844 | Abnormal hallux morphology | |
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0010054 | Abnormality of the first metatarsal bone | |
| HP:0011989 | Ectopic ossification in ligament tissue | |
| HP:0011987 | Ectopic ossification in muscle tissue | |
| HP:0002949 | Fused cervical vertebrae | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0030431 | Osteochondroma | |
| HP:0010109 | Short hallux | |
| HP:0003306 | Spinal rigidity | |
| HP:0001482 | Subcutaneous nodule | |
| Frequent (79-30%) | ||
| HP:0003367 | Abnormal femoral neck morphology | |
| HP:0001172 | Abnormal thumb morphology | |
| HP:0001596 | Alopecia | |
| HP:0010058 | Aplasia/Hypoplasia of the phalanges of the hallux | |
| HP:0030084 | Clinodactyly | |
| HP:0000365 | Hearing impairment | |
| HP:0001385 | Hip dysplasia | |
| HP:0030838 | Hip pain | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002650 | Scoliosis | |
| Occasional (29-5%) | ||
| HP:0002625 | Deep venous thrombosis | |
| HP:0030038 | Enchondroma | |
| HP:0001508 | Failure to thrive | |
| HP:0001822 | Hallux valgus | |
| HP:0001004 | Lymphedema | |
| HP:0000787 | Nephrolithiasis | |
| HP:0100240 | Synostosis of joints | |
| Very rare (<4-1%) | ||
| HP:0001903 | Anemia | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000501 | Glaucoma | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 32525643[PMID]_29445932[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/337
- This record as JSON: /data/d/337.json