HERMANSKY-PUDLAK SYNDROME 4
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HPS4 |
| Number of Symptoms | 5 |
| OrphanetNr: | |
| OMIM Id: |
614073
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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:0011883) | Abnormal platelet granules | 3 / 7739 | ||||
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(HPO:0002206) | Pulmonary fibrosis | 51 / 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:
| Molecular genetics OMIM |
Suzuki et al. (2002) identified the HSP4 gene as the human le homolog, and found mutations in HSP4 in a number of non-Puerto Rican individuals with HPS. See 606682. Bachli et al. (2004) reported a patient ... |