ORPHA:2781
Osteopetrosis and related disorders
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- All ages
- Status
- active
Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Osteopetrosis and related disorders | |
| fr | Ostéopétrose et maladies associées | |
| de | Osteopetrose und verwandte Krankheiten | |
| es | Osteopetrosis | |
| it | Osteopetrosi | |
| nl | Osteopetrose en gerelateerde aandoeningen | |
| pt | Osteopetrose | |
| pl | Osteopetroza | |
| cs | Osteopetróza a související poruchy | |
| uk | Остеопетроз та повязані з ним захворювання | |
| zh | 骨硬化症及其相关疾病 | |
| tr | Osteopetroz ve -ilişkili bozukluklar |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q78.2 | E | specific | validated |
| ICD-11 | LD24.10 | E | specific | validated |
| MONDO | 0017198 | E | validated | |
| MONDO | 17198 | E | validated | |
| MeSH | D010022 | E | validated | |
| UMLS | C0029454 | E | validated | |
| GARD | 4155 | E | validated | |
| MedDRA | 10031280 | 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 (2):
- ORPHA:93444Primary bone dysplasia with increased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:506219Rare disorder potentially indicated for hematopoietic stem cell transplant
rare transplant-related disorders
Children (20):
- ORPHA:9406312q14 microdeletion syndrome
- ORPHA:53Albers-Schönberg osteopetrosis
- ORPHA:2783Autosomal dominant osteopetrosis type 1
- ORPHA:667Autosomal recessive malignant osteopetrosis
- ORPHA:603494Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
- ORPHA:1782Dysosteosclerosis
- ORPHA:556985Early-onset calcifying leukoencephalopathy-skeletal dysplasia
- ORPHA:69088Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
- ORPHA:85179Infantile osteopetrosis with neuroaxonal dysplasia
- ORPHA:210110Intermediate osteopetrosis
- ORPHA:166119Isolated osteopoikilosis
- ORPHA:99844Leukocyte adhesion deficiency type III
- ORPHA:2485Melorheostosis
- ORPHA:1879Melorheostosis with osteopoikilosis
- ORPHA:2777Osteomesopyknosis
- ORPHA:2780Osteopathia striata-cranial sclerosis syndrome
- ORPHA:2785Osteopetrosis with renal tubular acidosis
- ORPHA:178389Osteopetrosis-hypogammaglobulinemia syndrome
- ORPHA:500548Osteosclerotic metaphyseal dysplasia
- ORPHA:763Pycnodysostosis
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Not yet validated | 16307387[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
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/2781
- This record as JSON: /data/d/2781.json