Albers-Schönberg osteopetrosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II OSTEOSCLEROSIS FRAGILIS GENERALISATA ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT MARBLE BONES, AUTOSOMAL DOMINANT OPTA2 Osteopetrosis autosomal dominant type 2 |
| Number of Symptoms | 47 |
| OrphanetNr: | 53 |
| OMIM Id: |
166600
|
| ICD-10: |
Q78.2 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 5 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive syndromic optic atrophy
-Rare eye disease -Rare genetic disease Osteopetrosis -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Unclassified primitive or secondary maculopathy -Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000670) | Carious teeth | Occasional [Orphanet] | 145 / 7739 | |||
|
|
(HPO:0007209) | Facial paralysis | 8 / 7739 | ||||
|
|
(HPO:0007626) | Mandibular osteomyelitis | 2 / 7739 | ||||
|
|
(HPO:0002007) | Frontal bossing | Very frequent [Orphanet] | 366 / 7739 | |||
|
|
(HPO:0000164) | Abnormality of the teeth | Frequent [Orphanet] | 291 / 7739 | |||
|
|
(HPO:0010628) | Facial palsy | Very frequent [Orphanet] | 146 / 7739 | |||
|
|
(HPO:0000256) | Macrocephaly | Very frequent [Orphanet] | 298 / 7739 | |||
|
|
(HPO:0000572) | Visual loss | Frequent [Orphanet] | 272 / 7739 | |||
|
|
(HPO:0000365) | Hearing impairment | Occasional [Orphanet] | 539 / 7739 | |||
|
|
(HPO:0006824) | Cranial nerve paralysis | Very frequent [Orphanet] | 81 / 7739 | |||
|
|
(HPO:0005789) | Generalized osteosclerosis | 10 / 7739 | ||||
|
|
(HPO:0010885) | Aseptic necrosis | Very frequent [Orphanet] | 24 / 7739 | |||
|
|
(HPO:0001163) | Abnormality of the metacarpal bones | Very frequent [Orphanet] | 149 / 7739 | |||
|
|
(HPO:0002757) | Recurrent fractures | 47 / 7739 | ||||
|
|
(HPO:0002857) | Genu valgum | Frequent [Orphanet] | 144 / 7739 | |||
|
|
(HPO:0002653) | Bone pain | Very frequent [Orphanet] | 75 / 7739 | |||
|
|
(HPO:0005930) | Abnormality of epiphysis morphology | Very frequent [Orphanet] | 119 / 7739 | |||
|
|
(HPO:0000944) | Abnormality of the metaphyses | Very frequent [Orphanet] | 141 / 7739 | |||
|
|
(HPO:0008843) | Hip osteoarthritis | 12 / 7739 | ||||
|
|
(HPO:0009882) | Short distal phalanx of finger | Very frequent [Orphanet] | 125 / 7739 | |||
|
|
(HPO:0001373) | Joint dislocation | Very frequent [Orphanet] | 59 / 7739 | |||
|
|
(HPO:0005106) | Abnormality of the vertebral endplates | 1 / 7739 | ||||
|
|
(HPO:0002644) | Abnormality of pelvic girdle bone morphology | 31 / 7739 | ||||
|
|
(HPO:0002659) | Increased susceptibility to fractures | Very frequent [Orphanet] | 110 / 7739 | |||
|
|
(HPO:0003084) | Fractures of the long bones | 5 / 7739 | ||||
|
|
(HPO:0011001) | Increased bone mineral density | Very frequent [Orphanet] | 78 / 7739 | |||
|
|
(HPO:0002758) | Osteoarthritis | Very frequent [Orphanet] | 78 / 7739 | |||
|
|
(HPO:0011002) | Osteopetrosis | 19 / 7739 | ||||
|
|
(HPO:0002754) | Osteomyelitis | Very frequent [Orphanet] | 37 / 7739 | |||
|
|
(HPO:0100769) | Synovitis | Very frequent [Orphanet] | 86 / 7739 | |||
|
|
(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
|
|
(HPO:0001903) | Anemia | Frequent [Orphanet] | 289 / 7739 | |||
|
|
(HPO:0001881) | Abnormality of leukocytes | Occasional [Orphanet] | 6 / 7739 | |||
|
|
(HPO:0005528) | Bone marrow hypocellularity | rare [HPO:skoehler] | 31 / 7739 | |||
|
|
(HPO:0001877) | Abnormality of erythrocytes | Occasional [Orphanet] | 18 / 7739 | |||
|
|
(HPO:0001876) | Pancytopenia | 89 / 7739 | ||||
|
|
(HPO:0002901) | Hypocalcemia | Occasional [Orphanet] | 56 / 7739 | |||
|
|
(HPO:0003148) | Elevated serum acid phosphatase | 7 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Endobones (bone within bone) | 1 / 7739 | ||||
|
|
(OMIM) | 'Rugger-Jersey' spine (vertebral endplate thickening) | 1 / 7739 | ||||
|
|
(HPO:0003621) | Juvenile onset | 105 / 7739 | ||||
|
|
(OMIM) | Pronounced skull base sclerosis | 1 / 7739 | ||||
|
|
(HPO:0012795) | Abnormality of the optic disc | Frequent [Orphanet] | 187 / 7739 | |||
|
|
(HPO:0000238) | Hydrocephalus | Occasional [Orphanet] | 278 / 7739 | |||
|
|
(OMIM) | Vision loss, severe, beginning in childhood (12 of 62 patients) | 1 / 7739 | ||||
|
|
(OMIM) | Facial palsy due to cranial nerve VII compression | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Autosomal dominant osteopetrosis type II is characterized by sclerosis, predominantly involving the spine, the pelvis, and the skull base. Fragility of bones and dental abscess are leading complications. Autosomal dominant osteopetrosis type I (OPTA1; 607634) is ... |
| Clinical Description OMIM |
Salzano (1961) reviewed dominant cases of osteopetrosis and found that fragility of bones and dental abscess are leading complications. A more malignant form, inherited as a recessive (see OPTB1, 259700), causes anemia and early death from interference with ... |
| Molecular genetics OMIM |
Among 12 autosomal dominant osteopetrosis families analyzed, Cleiren et al. (2001) reported 7 different mutations in the CLCN7 gene (see, e.g., 602727.0004 and 602727.0005). Among these families was the Danish family that Van Hul et al. (1997) initially ... |
| Population genetics OMIM | Salzano (1961) estimated the frequency of the dominant form of osteopetrosis in Brazil to be about 1 in 100,000. |