Isolated osteopoikilosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated osteopoikilosis | |
| fr | Ostéopoecilie isolée | Ostéopoïkilose isolée |
| de | Osteopoikilose, isolierte | |
| es | Osteopoiquilosis aislada | |
| it | Osteopoichilosi isolata | |
| nl | Geïsoleerde osteopoikilose | |
| pt | Osteopoiquilose isolada | |
| pl | Osteopoikilia izolowana | |
| cs | Izolovaná osteopoikilóza | |
| uk | Ізольований остеопоїкілоз | |
| zh | 孤立性骨质疏松 | |
| tr | İzole osteopoikoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 166700 | NTBT | validated | |
| ICD-10 | Q78.8 | NTBT | inclusion | validated |
| ICD-11 | LD24.11 | E | specific | validated |
| MONDO | 0015634 | E | validated | |
| MeSH | C563484 | E | validated | |
| UMLS | C1833699 | 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 (1):
- ORPHA:2781Osteopetrosis and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LEMD3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:28887 | ENSG00000174106 | 607844 | 12q14.3 | LEM domain containing 3 | 26694706[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Worldwide | Value and class | Validated | 31129707[PMID] |
| Annual incidence | 1-9 / 100 000 | 2 / 100 000 | Worldwide | Value and class | Validated | 31129707[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
33 annotations · validated 2021-10-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011849 | Abnormal bone ossification | |
| HP:0040068 | Abnormality of limb bone | |
| HP:0011001 | Increased bone mineral density | |
| Frequent (79-30%) | ||
| HP:0040163 | Abnormal pelvis bone morphology | |
| HP:0009106 | Abnormal pelvis bone ossification | |
| HP:0011314 | Abnormality of long bone morphology | |
| HP:0100774 | Hyperostosis | |
| HP:0100925 | Sclerosis of foot bone | |
| HP:0004289 | Sclerotic foci in hand bones | |
| Occasional (29-5%) | ||
| HP:0002823 | Abnormality of femur morphology | |
| HP:0100569 | Abnormally ossified vertebrae | |
| HP:0030955 | Alcoholism | |
| HP:0030840 | Ankle pain | |
| HP:0002829 | Arthralgia | |
| HP:0002653 | Bone pain | |
| HP:0000620 | Dacryocystitis | |
| HP:0032148 | Episodic pain | |
| HP:0030838 | Hip pain | |
| HP:0001387 | Joint stiffness | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0004240 | Sclerotic foci within carpal bones | |
| HP:0001474 | Sclerotic scapulae | |
| HP:0031051 | Tarsal sclerosis | |
| Very rare (<4-1%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000818 | Abnormality of the endocrine system | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0002960 | Autoimmunity | |
| HP:0000175 | Cleft palate | |
| HP:0007417 | Discoid lupus rash | |
| HP:0010562 | Keloids | |
| HP:0100324 | Scleroderma | |
| HP:0001159 | Syndactyly | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 31129707[PMID]_23910432[PMID]_31617484[PMID]_26644888[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/166119
- This record as JSON: /data/d/166119.json