Hermansky-Pudlak syndrome without pulmonary fibrosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HPS without pulmonary fibrosis |
| Number of Symptoms | 5 |
| OrphanetNr: | 231512 |
| OMIM Id: |
614072
614074 614075 |
| ICD-10: |
E70.3 |
| 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: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Hermansky-Pudlak syndrome
-Rare eye disease -Rare genetic disease -Rare hematologic disease -Rare skin disease |
Symptom Information:
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(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
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(HPO:0000505) | Visual impairment | 297 / 7739 | ||||
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(HPO:0001892) | Abnormal bleeding | 85 / 7739 | ||||
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(HPO:0011883) | Abnormal platelet granules | 3 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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