Intermediate osteopetrosis
Synonyms: Autosomal recessive intermediate osteopetrosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intermediate osteopetrosis | Autosomal recessive intermediate osteopetrosis |
| fr | Ostéopétrose intermédiaire | Ostéopétrose intermédiaire autosomique récessive |
| de | Osteopetrosis, intermediäre | Osteopetrosis, intermediäre, autosomal-rezessive |
| es | Osteopetrosis intermedia | Osteopetrosis intermedia autosómica recesiva |
| it | Osteopetrosi intermedia | Osteopetrosi intermedia autosomica recessiva |
| nl | Intermediaire osteopetrose | Autosomaal recessieve intermediaire osteopetrose |
| pt | Osteopetrose intermédia | |
| pl | Osteopetroza pośrednia | Autosomalna recesywna osteopetroza pośrednia |
| cs | Osteopetróza, středně závažný typ | Autozomálně recesivní přechodná osteopetróza · Autozomálně recesivní osteopetróza, typ 6 |
| uk | Помірно виражений остеопетроз | Аутосомно-рецесивний проміжний остеопетроз |
| zh | 中间型骨硬化病 | 常染色体隐性遗传中间型骨硬化病 |
| tr | Orta derecede osteopetroz | Otozomal Çekinik orta düzey osteopetroz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611497 | E | validated | |
| ICD-10 | Q78.2 | NTBT | attributed | validated |
| ICD-11 | LD24.10 | NTBT | index | validated |
| MONDO | 0012679 | E | validated | |
| UMLS | C0432261 | E | validated | |
| GARD | 4156 | 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 (2):
- 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
3 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 | 12522560[PMID]_20301306[PMID] |
| PLEKHM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:29017 | ENSG00000225190 | 611466 | 17q21.31 | pleckstrin homology and RUN domain containing M1 | 17404618[PMID] |
| TCIRG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11647 | ENSG00000110719 | 604592 | 11q13.2 | T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | 24535816[PMID]_25829125[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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.
HPO phenotypes
23 annotations · validated 2019-07-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004348 | Abnormality of bone mineral density | |
| Frequent (79-30%) | ||
| HP:0003418 | Back pain | |
| HP:0005652 | Cortical sclerosis | |
| HP:0004975 | Erlenmeyer flask deformity of the femurs | |
| HP:0005789 | Generalized osteosclerosis | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0005746 | Osteosclerosis of the base of the skull | |
| HP:0002757 | Recurrent fractures | |
| HP:0004618 | Sandwich appearance of vertebral bodies | |
| Occasional (29-5%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0001903 | Anemia | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| Very rare (<4-1%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0031035 | Chronic infection | |
| HP:0001293 | Cranial nerve compression | |
| HP:0000689 | Dental malocclusion | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0007958 | Optic atrophy from cranial nerve compression | |
| HP:0002754 | Osteomyelitis | |
| HP:0000505 | Visual impairment | |
| Excluded (0%) | ||
| HP:0002901 | Hypocalcemia | |
| HP:0001873 | Thrombocytopenia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20301306[PMID]_28975865[PMID]_28819563[PMID]_17404618[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/210110
- This record as JSON: /data/d/210110.json