# Albinismo oculocutâneo sindrômico

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

## Identificadores

- **ORPHA**: 284811 — https://www.orpha.net/en/disease/detail/284811
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Albinismo que afeta os olhos e a pele, e faz parte de uma síndrome maior.

## Epidemiologia e herança


## Sinais e sintomas (282 fenótipos HPO)

- **Atrofia da medula espinhal** — HPO: HP:0006827
- **Grânulos densos plaquetários reduzidos** — HPO: HP:0033535
- **Comprometimento cognitivo** — HPO: HP:0100543
- **Metrorragia** — HPO: HP:0100608
- **Grânulos neutrofílicos gigantes** — HPO: HP:0032499
- **Menometrorragia** — HPO: HP:0400008
- **Hipermetropia moderada** — HPO: HP:0031729
- **Razão CD4:CD8 invertida** — HPO: HP:0033222
- **Equimose** — HPO: HP:0031364
- **Astigmatismo miópico** — HPO: HP:0500041
- **Anormalidade do movimento** — HPO: HP:0100022
- **Sangramento excessivo após venopunção** — HPO: HP:0030139
- **Contagem reduzida de células natural killer** — HPO: HP:0040218
- **Grânulos densos plaquetários aumentados** — HPO: HP:0033264
- **Agregação plaquetária anormal** — HPO: HP:0030402
- **Sangramento excessivo de cortes superficiais** — HPO: HP:0030138
- **Grânulos densos plaquetários ausentes** — HPO: HP:0033263
- **Ausência de reflexo foveal** — HPO: HP:0030825
- **Aumento da proporção de mastócitos CD25+** — HPO: HP:0031408
- **Infecções bacterianas cutâneas recorrentes** — HPO: HP:0005406
- **Derrame pericárdico** — HPO: HP:0001698
- **Anemia** — HPO: HP:0001903
- **Atraso global do desenvolvimento** — HPO: HP:0001263
- **Grânulos densos anormais** — HPO: HP:0012484
- **Neuropatia periférica progressiva** — HPO: HP:0007133
- **Narinas antevertidas** — HPO: HP:0000463
- **Neuropatia sensorial** — HPO: HP:0000763
- **Grandes aglomerados de pigmento irregularmente distribuídos ao longo da haste capilar** — HPO: HP:0004527
- **Acuidade visual reduzida** — HPO: HP:0007663
- **Hipotonia generalizada** — HPO: HP:0001290
- **Cabelo branco** — HPO: HP:0011364
- **Atraso global leve do desenvolvimento** — HPO: HP:0011342
- **Otite média recorrente** — HPO: HP:0000403
- **Amigdalite recorrente** — HPO: HP:0011110
- **Nevo melanocítico** — HPO: HP:0000995
- **Retinopatia** — HPO: HP:0000488
- **Morfologia anormal das células da medula óssea** — HPO: HP:0005561
- **Estrabismo** — HPO: HP:0000486
- **Infecções do trato urinário recorrentes** — HPO: HP:0000010
- **Cabelo claro** — HPO: HP:0002286
- _...e mais 242 sintomas. Ver https://raras.org/doenca/albinismo-oculocutaneo-sindromico._

## Genes associados (15)

- **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
- **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
- **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
- **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
- **LYST** — Lysosomal-trafficking regulator [Disease-causing germline mutation(s) in]
  - Função: Adapter protein that regulates and/or fission of intracellular vesicles such as lysosomes (PubMed:11984006, PubMed:25216107). Might regulate trafficking of effectors involved in exocytosis (PubMed:254
- **MYO5A** — Unconventional myosin-Va [Disease-causing germline mutation(s) in]
  - Função: Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Can hydrolyze ATP in the presence of actin, which is essential for its function a
- **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
- **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
- **HPS3** — BLOC-2 complex member HPS3 [Disease-causing germline mutation(s) in]
  - Função: Involved in early stages of melanosome biogenesis and maturation
- **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
- **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
- **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
- **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
- **RAB27A** — Ras-related protein Rab-27A [Disease-causing germline mutation(s) in]
  - Função: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form a
- **MLPH** — Melanophilin [Disease-causing germline mutation(s) in]
  - Função: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A

## Medicamentos em desenvolvimento (4)

- SORAFENIB — Fase Phase 2 (Vascular endothelial growth factor receptor inhibitor)
- BOSENTAN — Fase Phase 2 (Endothelin receptor, ET-A/ET-B antagonist)
- LETROZOLE — Fase Phase 2 (Cytochrome P450 19A1 inhibitor)
- PENTOXIFYLLINE — Fase Phase 1 (3',5'-cyclic phosphodiesterase inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0017305

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome de Hermansky-Pudlak](https://raras.org/doenca/sindrome-de-hermansky-pudlak) — ORPHA:79430 — 150 sintomas em comum
- [Síndrome Chediak-Higashi](https://raras.org/doenca/sindrome-chediak-higashi) — ORPHA:167 — 93 sintomas em comum
- [Síndrome Griscelli](https://raras.org/doenca/sindrome-griscelli) — ORPHA:381 — 62 sintomas em comum
- [Doença do metabolismo do folato](https://raras.org/doenca/doenca-do-metabolismo-do-folato) — ORPHA:285657 — 57 sintomas em comum
- [Disqueratose congênita](https://raras.org/doenca/disqueratose-congenita) — ORPHA:1775 — 54 sintomas em comum
- [Síndrome Aicardi-Goutieres](https://raras.org/doenca/sindrome-aicardi-goutieres) — ORPHA:51 — 53 sintomas em comum
- [Síndrome de hipotonia-transtorno da linguagem-transtorno do desenvolvimento intelectual grave](https://raras.org/doenca/sindrome-de-hipotonia-transtorno-da-linguagem-transtorno-do-desenvolvimento-intelectual-grave) — ORPHA:371364 — 50 sintomas em comum
- [Deficiência de complexo III isolada](https://raras.org/doenca/deficiencia-de-complexo-iii-isolada) — ORPHA:1460 — 50 sintomas em comum
- [Acidemia metilmalônica com homocistinúria](https://raras.org/doenca/acidemia-metilmalonica-com-homocistinuria) — ORPHA:26 — 48 sintomas em comum
- [Iridogoniodisgenesia](https://raras.org/doenca/iridogoniodisgenesia) — ORPHA:98634 — 48 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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**Citação sugerida**: Raras.org — Albinismo oculocutâneo sindrômico. Disponível em: https://raras.org/doenca/albinismo-oculocutaneo-sindromico
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