ORPHA:53
Albers-Schönberg osteopetrosis
Synonyms: Osteopetrosis autosomal dominant type 2
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Albers-Schönberg osteopetrosis | Osteopetrosis autosomal dominant type 2 |
| fr | Ostéopétrose d'Albers-Schönberg | Ostéopétrose autosomique dominante type 2 |
| de | Osteopetrosis Albers-Schönberg | Albers-Schönberg-Krankheit · Osteopetrose, autosomal-dominante, Typ 2 |
| es | Osteopetrosis de Albers-Schönberg | |
| it | Osteopetrosi di Albers-Schönberg | Osteopetrosi autosomica dominante, tipo 2 |
| nl | Osteopetrose van Albers-Schönberg | Autosomaal dominante osteopetrose type 2 |
| pt | Osteopetrose Albers-Schönberg | Doença de Albers-Schönberg · Osteopetrose autossómica dominante tipo 2 |
| pl | Choroba Albersa i Schönberga | Autosomalna dominująca osteopetroza typu 2 |
| cs | Albersova-Schönbergova osteopetróza | Albers-Schönbergova nemoc · Osteopetróza, pozdní forma · Osteopetróza, benigní forma · Osteopetróza, autozomálně dominantní, typ 2 · Albers-Schönbergova osteopetróza |
| uk | Остеопетроз Альберса-Шенберга | Остеопетроз аутосомно-домінантний тип 2 |
| zh | 骨硬化症 | 常染色体显性遗传骨硬化症2型 |
| tr | Albers-Schönberg osteopetrozu | Osteopetroz otozomal dominant tip 2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 166600 | E | validated | |
| ICD-10 | Q78.2 | NTBT | inclusion | validated |
| ICD-11 | LD24.10 | NTBT | index | validated |
| MONDO | 0008156 | E | validated | |
| UMLS | C3179239 | E | validated | |
| GARD | 383 | 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 (3):
- ORPHA:519337Disorder with optic nerve compression
rare genetic diseases; rare ophthalmic disorders - ORPHA:728475Inherited bone marrow failure disorder with immune defect
rare genetic diseases; rare immunological diseases - ORPHA:2781Osteopetrosis and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CLCN7 | Disease-causing germline mutation(s) in | Assessed | HGNC:2025 | ENSG00000103249 | 602727 | 16p13.3 | Cl-/H+ antiporter 7 | 11741829[PMID]_20301306[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Not yet validated | 20301306[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.5 / 100 000 | Denmark | Value and class | Validated | 3829443[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Brazil | Value and class | Validated | 14496532[PMID] |
| Point prevalence | 1-9 / 100 000 | 5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
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
36 annotations · validated 2024-04-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0001369 | Arthritis | |
| HP:0010885 | Avascular necrosis | |
| HP:0002653 | Bone pain | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0010628 | Facial palsy | |
| HP:0002007 | Frontal bossing | |
| HP:0005789 | Generalized osteosclerosis | |
| HP:0001373 | Joint dislocation | |
| HP:0000256 | Macrocephaly | |
| HP:0007626 | Mandibular osteomyelitis | |
| HP:0002758 | Osteoarthritis | |
| HP:0002754 | Osteomyelitis | |
| HP:0002757 | Recurrent fractures | |
| HP:0009882 | Short distal phalanx of finger | |
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0001903 | Anemia | |
| HP:0012378 | Fatigue | |
| HP:0002857 | Genu valgum | |
| HP:0000648 | Optic atrophy | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0001881 | Abnormal leukocyte morphology | |
| HP:0012145 | Abnormality of multiple cell lineages in the bone marrow | |
| HP:0000618 | Blindness | |
| HP:0000670 | Carious teeth | |
| HP:0000365 | Hearing impairment | |
| HP:0000238 | Hydrocephalus | |
| HP:0002901 | Hypocalcemia | |
| HP:0005746 | Osteosclerosis of the base of the skull | |
| HP:0001873 | Thrombocytopenia | |
| HP:0030757 | Tooth abscess | |
| Very rare (<4-1%) | ||
| HP:0001293 | Cranial nerve compression | |
| HP:0000505 | Visual impairment | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 32491461[PMID]_20301306[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/53
- This record as JSON: /data/d/53.json