Osteopetrosis-hypogammaglobulinemia syndrome
Synonyms: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia · Autosomal recessive osteopetrosis type 7
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Osteopetrosis-hypogammaglobulinemia syndrome | Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia · Autosomal recessive osteopetrosis type 7 |
| fr | Syndrome d'ostéopétrose-hypogammaglobulinémie | Ostéopétrose autosomique récessive type 7 |
| de | Osteopetrose-Hypogammaglobulinämie-Syndrom | Osteopetrose mit Osteoklastenmangel und Hypogammaglobulinämie, autosomal-rezessive Form · Osteopetrose, autosomal-rezessive, Typ 7 |
| es | Síndrome de osteopetrosis-hipogammaglobulinemia | Osteopetrosis autosómica recesiva tipo 7 · Osteopetrosis pobre en osteoclastos autosómica recesiva con hipogammaglobulinemia |
| it | Sindrome osteopetrosi e ipogammaglobulinemia | |
| nl | Osteopetrose - hypogammaglobulinemie-syndroom | Autosomaal recessieve osteoclastarme osteopetrose met hypogammaglobulinemie · Autosomaal recessieve osteopetrose type 7 |
| pt | Osteopetrose - hipogamaglobulinemia | |
| pl | Osteopetroza - hipogammaglobulinemia | Autosomalna recesywna osteopetroza typu 7 · Autosomalna recesywna uboga w osteoklasty osteopetroza z hipogammaglobulinemią |
| cs | Syndrom zahrnující osteopetrózu a hypogamaglobulinémii | Autozomálně recesivní osteopetróza s nedostatkem osteoklastů s hypogamaglobulinémií · Autozomálně recesivní osteopetróza, typ 7 |
| uk | Синдром остеопетрозу-гіпогаммаглобулінемії | Аутосомно-рецесивний остеопетроз з гіпогаммаглобулінемією, бідний на остеокласти · Аутосомно-рецесивний остеопетроз, тип 7 |
| zh | 骨硬化-低丙种球蛋白综合征 | 常染色体隐性遗传破骨细胞缺乏性骨硬化症伴低丙种球蛋白血症 |
| tr | Osteopetroz-hipogammaglobulinemi sendromu | Otozomal çekinik osteopetroz tip 7 · Hipogammaglobulinemi ile seyreden otozomal çekinik osteoklast-zayıf osteopetroz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612301 | E | validated | |
| ICD-10 | Q78.2 | NTBT | attributed | validated |
| ICD-11 | 4A01.0Y | NTBT | index | validated |
| MONDO | 0012859 | E | validated | |
| UMLS | C4751205 | E | validated | |
| GARD | 10106 | 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 (3):
- ORPHA:101977Immunodeficiency due to predominantly antibodies defect
rare genetic diseases; rare immunological diseases - 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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TNFRSF11A | Disease-causing germline mutation(s) in | Assessed | HGNC:11908 | ENSG00000141655 | 603499 | 18q21.33 | TNF receptor superfamily member 11a | 18606301[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 18606301[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18606301[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/178389
- This record as JSON: /data/d/178389.json