Osteoporosis - oculocutaneous hypopigmentation syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
OOCH OOCHS Hernández-Fragoso syndrome |
| Number of Symptoms | 6 |
| OrphanetNr: | 2786 |
| OMIM Id: |
601220
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 3 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Primary bone dysplasia with decreased bone density
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0001107) | Ocular albinism | 40 / 7739 | ||||
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(HPO:0000939) | Osteoporosis | 129 / 7739 | ||||
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(HPO:0001010) | Hypopigmentation of the skin | 46 / 7739 | ||||
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(HPO:0040160) | Generalized osteoporosis | 7 / 7739 | ||||
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(OMIM) | No cerebral defects | 1 / 7739 | ||||
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(OMIM) | Oculocutaneous hypopigmentation syndrome (OOCH) | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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