Intermediate osteopetrosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE, INTERMEDIATE FORM OPTB6 Autosomal recessive intermediate osteopetrosis |
| Number of Symptoms | 4 |
| OrphanetNr: | 210110 |
| OMIM Id: |
611497
|
| ICD-10: |
Q78.2 |
| UMLs: |
C0432261 |
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
254121000 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Osteopetrosis
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
|
(HPO:0100959) | Dense metaphyseal bands | 17404618 | IBIS | 1 / 7739 | ||
|
|
(HPO:0004975) | Erlenmeyer flask deformity of the femurs | 17404618 | IBIS | 8 / 7739 | ||
|
|
(HPO:0011002) | Osteopetrosis | 17404618 | IBIS | 19 / 7739 | ||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|