HERMANSKY-PUDLAK SYNDROME 5
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HPS5 |
| Number of Symptoms | 5 |
| OrphanetNr: | |
| OMIM Id: |
614074
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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: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0001107) | Ocular albinism | 40 / 7739 | ||||
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(HPO:0001022) | Albinism | 43 / 7739 | ||||
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(HPO:0000978) | Bruising susceptibility | 123 / 7739 | ||||
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(HPO:0001873) | Thrombocytopenia | 224 / 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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Additional Information:
| Clinical Description OMIM |
Zhang et al. (2003) described a patient with Hermansky-Pudlak syndrome caused by homozygous mutation in the HPS5 gene. The 3-year-old Turkish boy, whose parents were first cousins, had clinically mild oculocutaneous albinism and easy bruising. His platelet count ... |
| Molecular genetics OMIM | In a 3-year-old Turkish boy with HPS, Zhang et al. (2003) identified a homozygous 4-bp deletion (607521.0001) in the HPS5 gene. |