# Síndrome de Hermansky-Pudlak

> Página oficial: https://raras.org/doenca/sindrome-de-hermansky-pudlak
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 79430 — https://www.orpha.net/en/disease/detail/79430
- **CID-10**: E70.3
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A Síndrome de Hermansky-Pudlak (SHP) é uma doença que afeta vários sistemas do corpo, caracterizada por albinismo oculocutâneo, tendência a sangramentos e, em alguns casos, baixa de neutrófilos (um tipo de glóbulo branco), fibrose pulmonar ou uma inflamação no intestino (colite granulomatosa). A SHP engloba oito subtipos conhecidos (SHP-1 a SHP-8), a maioria dos quais apresenta as mesmas características clínicas, mas com diferentes níveis de gravidade.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 1 000 000
- **Padrão de herança**: Autosomal recessive

## Sinais e sintomas (150 fenótipos HPO)

- **Sangramento prolongado após extração dentária** — HPO: HP:0006298
- **Grânulos densos plaquetários reduzidos** — HPO: HP:0033535
- **Hipotelorismo** — HPO: HP:0000601
- **Crise mioclônica focal** — HPO: HP:0011166
- **Hipotonia generalizada** — HPO: HP:0001290
- **Crise tônico-clônica bilateral** — HPO: HP:0002069
- **Macrotia** — HPO: HP:0000400
- **Morfologia intersticial pulmonar anormal** — HPO: HP:0006530
- **Hipotonia axial** — HPO: HP:0008936
- **Epistaxe espontânea e recorrente** — HPO: HP:0004406
- **Número anormal de grânulos densos** — HPO: HP:0012530
- **Nistagmo congênito** — HPO: HP:0006934
- **Anormalidade no EEG** — HPO: HP:0002353
- **Retrognatia** — HPO: HP:0000278
- **Atrofia cerebral** — HPO: HP:0002059
- **Apneia** — HPO: HP:0002104
- **Distonia** — HPO: HP:0001332
- **Mielinização atrasada do SNC** — HPO: HP:0002188
- **Infecções respiratórias recorrentes** — HPO: HP:0002205
- **Controle cefálico pobre** — HPO: HP:0002421
- **Atraso global grave do desenvolvimento** — HPO: HP:0011344
- **Dificuldades alimentares** — HPO: HP:0011968
- **Orelhas de implantação baixa** — HPO: HP:0000369
- **Hepatoesplenomegalia** — HPO: HP:0001433
- **Formação recorrente de abscesso** — HPO: HP:0002722
- **Otite média recorrente** — HPO: HP:0000403
- **Razão CD4:CD8 invertida** — HPO: HP:0033222
- **Periodontite** — HPO: HP:0000704
- **Grânulos densos plaquetários aumentados** — HPO: HP:0033264
- **Candidíase oral crônica** — HPO: HP:0009098
- **Ponte nasal ampla** — HPO: HP:0000431
- **Microcefalia** — HPO: HP:0000252
- **Dentes cariados** — HPO: HP:0000670
- **Contagem reduzida de células natural killer** — HPO: HP:0040218
- **Esplenomegalia** — HPO: HP:0001744
- **Orelhas com rotação posterior** — HPO: HP:0000358
- **Pneumonia recorrente** — HPO: HP:0006532
- **Vermelhão do lábio superior fino** — HPO: HP:0000219
- **Infecções bacterianas recorrentes** — HPO: HP:0002718
- **Filtro liso** — HPO: HP:0000319
- _...e mais 110 sintomas. Ver https://raras.org/doenca/sindrome-de-hermansky-pudlak._

## Genes associados (11)

- **BLOC1S3** — Biogenesis of lysosome-related organelles complex 1 subunit 3 [Disease-causing germline mutation(s) in]
  - Função: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 comple
- **AP3B1** — AP-3 complex subunit beta-1 [Disease-causing germline mutation(s) in]
  - Função: Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes me
- **BLOC1S5** — Biogenesis of lysosome-related organelles complex 1 subunit 5 [Disease-causing germline mutation(s) in]
  - Função: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes (PubMed:32565547). In concert wi
- **AP3D1** — AP-3 complex subunit delta-1 [Disease-causing germline mutation(s) in]
  - Função: Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding
- **HPS6** — BLOC-2 complex member HPS6 [Disease-causing germline mutation(s) in]
  - Função: May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules (PubMed:17041891). Acts as a cargo adapter for the dynein-dyn
- **HPS5** — BLOC-2 complex member HPS5 [Disease-causing germline mutation(s) in]
  - Função: May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts
- **HPS1** — BLOC-3 complex member HPS1 [Disease-causing germline mutation(s) in]
  - Função: Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into a
- **BLOC1S6** — Biogenesis of lysosome-related organelles complex 1 subunit 6 [Disease-causing germline mutation(s) in]
  - Função: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 comple
- **HPS3** — BLOC-2 complex member HPS3 [Disease-causing germline mutation(s) in]
  - Função: Involved in early stages of melanosome biogenesis and maturation
- **HPS4** — BLOC-3 complex member HPS4 [Disease-causing germline mutation(s) in]
  - Função: Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into a
- **DTNBP1** — Dysbindin [Disease-causing germline mutation(s) in]
  - Função: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 comple

## Ensaios clínicos ativos (3)

- **NCT00001456** [RECRUITING]: Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome — https://clinicaltrials.gov/study/NCT00001456
- **NCT03655223** [ENROLLING_BY_INVITATION]: Early Check: Expanded Screening in Newborns — https://clinicaltrials.gov/study/NCT03655223
- **NCT00084305** [ACTIVE_NOT_RECRUITING]: Analysis of Specimens From Individuals With Pulmonary Fibrosis — https://clinicaltrials.gov/study/NCT00084305
- **NCT02368340** [COMPLETED]: A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis — https://clinicaltrials.gov/study/NCT02368340
- **NCT04193592** [UNKNOWN]: Efficacy and Safety of Pirfenidone Treatment in HPS-ILD — https://clinicaltrials.gov/study/NCT04193592
- **NCT01417520** [COMPLETED]: Clinical and Pathophysiological Investigations Into Erdheim Chester Disease — https://clinicaltrials.gov/study/NCT01417520
- **NCT00514982** [WITHDRAWN]: Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome — https://clinicaltrials.gov/study/NCT00514982
- **NCT00467831** [TERMINATED]: Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome — https://clinicaltrials.gov/study/NCT00467831

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome Hermansky-Pudlak por deficiência BLOC-2](https://raras.org/doenca/sindrome-hermansky-pudlak-por-deficiencia-bloc-2) — ORPHA:231512 — 47 sintomas em comum
- [Síndrome Hermansky-Pudlak devido a deficiência AP3B1](https://raras.org/doenca/sindrome-hermansky-pudlak-devido-a-deficiencia-ap3b1) — ORPHA:664500 — 45 sintomas em comum
- [Síndrome Hermansky-Pudlak por deficiência AP-3](https://raras.org/doenca/sindrome-hermansky-pudlak-por-deficiencia-ap-3) — ORPHA:183678 — 45 sintomas em comum
- [Albinismo oculocutâneo](https://raras.org/doenca/albinismo-oculocutaneo) — ORPHA:55 — 33 sintomas em comum
- [Síndrome Hermansky-Pudlak por deficiência BLOC-3](https://raras.org/doenca/sindrome-hermansky-pudlak-por-deficiencia-bloc-3) — ORPHA:231500 — 30 sintomas em comum
- [Síndrome White-Sutton](https://raras.org/doenca/sindrome-white-sutton) — ORPHA:468678 — 29 sintomas em comum
- [Tricotiodistrofia](https://raras.org/doenca/tricotiodistrofia) — ORPHA:33364 — 29 sintomas em comum
- [Síndrome de perturbação do desenvolvimento intelectual DYRK1A-relacionada](https://raras.org/doenca/sindrome-de-perturbacao-do-desenvolvimento-intelectual-dyrk1a-relacionada) — ORPHA:464306 — 29 sintomas em comum
- [Síndrome ADNP](https://raras.org/doenca/sindrome-adnp) — ORPHA:404448 — 29 sintomas em comum
- [Disqueratose congênita](https://raras.org/doenca/disqueratose-congenita) — ORPHA:1775 — 28 sintomas em comum

## Importante

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Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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