Dacryocystitis - osteopoikilosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Gunal-Seber-Basaran syndrome |
| Number of Symptoms | 6 |
| OrphanetNr: | 1562 |
| OMIM Id: |
166705
|
| ICD-10: |
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| UMLs: |
C1833698 |
| MeSH: |
C536061 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 5 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
No data available [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
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:0000620) | Dacryocystitis | 4 / 7739 | ||||
|
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(HPO:0000632) | Lacrimation abnormality | Very frequent [Orphanet] | 42 / 7739 | |||
|
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(HPO:0011001) | Increased bone mineral density | Very frequent [Orphanet] | 78 / 7739 | |||
|
|
(HPO:0010739) | Osteopoikilosis | 2 / 7739 | ||||
|
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(MedDRA:10011844) | Dacryocystitis | 4 / 7739 | ||||
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|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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