loading...| Preferred Name |
Hermansky-Pudlak syndrome |
|
| Synonyms |
HPS |
|
| Definitions |
Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_79430 |
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| alternative_term |
HPS |
|
| definition |
Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79430 |
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| has_age_of_onset |
Infancy Neonatal |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
OMIM:617050 OMIM:614171 ICD-11:EC23.20 MeSH:D022861 OMIM:619172 UMLS:C0079504 MedDRA:10071775 OMIM:203300 OMIM:614072 OMIM:614074 OMIM:614077 OMIM:614073 OMIM:614075 OMIM:614076 OMIM:608233 ICD-10:E70.3 |
|
| label |
Hermansky-Pudlak syndrome |
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| notation |
ORPHA:79430 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_284811 |
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| prefixIRI |
ORDO:Orphanet_79430 |
|
| prefLabel |
Hermansky-Pudlak syndrome |
|
| present_in |
Puerto rico AND has_point_prevalence_average_value : 55.0 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_average_value : 0.15 AND has_point_prevalence_range : 1-9 / 1 000 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_284811 |
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| subClassOf |