Osteosclerosis - ichthyosis - premature ovarian failure
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SCLEROSING DYSPLASIA OF BONE WITH ICHTHYOSIS AND PREMATURE OVARIAN FAILURE Sclerosing dysplasia of bone - ichthyosis - premature ovarian failure |
| Number of Symptoms | 5 |
| OrphanetNr: | 75325 |
| OMIM Id: |
609993
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| ICD-10: |
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| UMLs: |
C1864942 |
| MeSH: |
C536064 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 3 cases [Orphanet] |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal ichthyosis syndrome with other associated signs
-Rare genetic disease -Rare skin disease Non-acquired premature ovarian failure -Rare endocrine disease -Rare genetic disease -Rare gynecologic or obstetric disease Primary bone dysplasia with increased bone density -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000869) | Secondary amenorrhea | Very frequent [Orphanet] | 42 / 7739 | |||
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(HPO:0000479) | Abnormality of the retina | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0011001) | Increased bone mineral density | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0008064) | Ichthyosis | Very frequent [Orphanet] | 108 / 7739 | |||
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(HPO:0010741) | Edema of the lower limbs | Very frequent [Orphanet] | 34 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Gunal et al. (2005) described an apparently new form of sclerosing dysplasia of bone in 3 adult sisters in a family from Northern Syria. The parents, 2 sisters, 5 brothers, and 22 nephews and nieces showed no signs ... |