# Esfingolipidose

> Página oficial: https://raras.org/doenca/esfingolipidose
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-09

## Identificadores

- **ORPHA**: 79225 — https://www.orpha.net/en/disease/detail/79225
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Distúrbio metabólico hereditário que afeta a degradação lisossomal dos espingolipídeos. Exemplos representativos incluem a doença de Gaucher, a doença de Tay-Sachs e a doença de Niemann-Pick.

## Epidemiologia e herança


## Sinais e sintomas (760 fenótipos HPO)

- **Formato facial anormal** — HPO: HP:0001999
- **Hemorragia nasal** — HPO: HP:6001353
- **Aumento da beta-hexosaminidase sérica** — HPO: HP:0003333
- **Mania** — HPO: HP:0100754
- **Fraqueza dos flexores do quadril** — HPO: HP:0012515
- **Crise focal com alteração da consciência** — HPO: HP:0002384
- **Fala ausente** — HPO: HP:0001344
- **Dismetria** — HPO: HP:0001310
- **Sialorreia** — HPO: HP:0002307
- **Extensão limitada do cotovelo** — HPO: HP:0001377
- **Atrofia do músculo quadríceps** — HPO: HP:0009050
- **Instabilidade postural** — HPO: HP:0002172
- **Anormalidade do metabolismo de glicolipídeos** — HPO: HP:0010969
- **Fraqueza muscular distal de membro superior** — HPO: HP:0008959
- **Extensão limitada do joelho** — HPO: HP:0003066
- **Coordenação motora fina pobre** — HPO: HP:0007010
- **Dificuldade para subir escadas** — HPO: HP:0003551
- **Laringoespasmo** — HPO: HP:0025425
- **Amiotrofia distal** — HPO: HP:0003693
- **Tremor cefálico** — HPO: HP:0002346
- **Sensação de vibração prejudicada nos membros inferiores** — HPO: HP:0002166
- **Propriocepção prejudicada** — HPO: HP:0010831
- **Obstrução do trato biliar** — HPO: HP:0005230
- **Compressão da medula espinhal** — HPO: HP:0002176
- **Parada cardíaca** — HPO: HP:0001695
- **Anodontia** — HPO: HP:0000674
- **Anormalidade da dentição** — HPO: HP:0000164
- **Ataxia troncular** — HPO: HP:0002078
- **Padrão anormal de respiração** — HPO: HP:0002793
- **Aumento da suscetibilidade a fraturas** — HPO: HP:0002659
- **Baixos níveis de vitamina A** — HPO: HP:0004905
- **Bochechas cheias** — HPO: HP:0000293
- **Pinguécula** — HPO: HP:0031830
- **Puberdade precoce** — HPO: HP:0000826
- **Distonia laríngea** — HPO: HP:0012049
- **Dificuldades de articulação da fala** — HPO: HP:0009088
- **Gliose** — HPO: HP:0002171
- **Hipertensão portal** — HPO: HP:0001409
- **Suscetibilidade a hematomas** — HPO: HP:0000978
- **Derrame pericárdico** — HPO: HP:0001698
- _...e mais 720 sintomas. Ver https://raras.org/doenca/esfingolipidose._

## Genes associados (17)

- **GBA1** — Lysosomal acid glucosylceramidase [Disease-causing germline mutation(s) in]
  - Função: Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramides/GlcCers (such as beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine) into free ceramides (such as N-
- **GBA2** — Non-lysosomal glucosylceramidase [Candidate gene tested in]
  - Função: Non-lysosomal glucosylceramidase that catalyzes the hydrolysis of glucosylceramides/GlcCers (such as beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine) to free glucose and ceramides (such as N-acylsphing-
- **SCARB2** — Lysosome membrane protein 2 [Candidate gene tested in]
  - Função: Acts as a lysosomal receptor for glucosylceramidase (GBA1) targeting (Microbial infection) Acts as a receptor for enterovirus 71
- **APOE** — Apolipoprotein E [Disease-causing germline mutation(s) in]
  - Função: APOE is an apolipoprotein, a protein associating with lipid particles, that mainly functions in lipoprotein-mediated lipid transport between organs via the plasma and interstitial fluids (PubMed:14754
- **ASAH1** — Acid ceramidase [Disease-causing germline mutation(s) in]
  - Função: Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH (PubMed:10610716, PubMed:11451951, PubMed:15655246, PubMed:26898341, PubMed:36752535, Pub
- **ARSA** — ATPase GET3 [Disease-causing germline mutation(s) in]
  - Função: ATPase required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum (PubMed:17382883). Recognizes and selectively binds the transmembrane domain of TA prote
- **HEXB** — Beta-hexosaminidase subunit beta [Disease-causing germline mutation(s) in]
  - Função: Hydrolyzes the non-reducing end N-acetyl-D-hexosamine and/or sulfated N-acetyl-D-hexosamine of glycoconjugates, such as the oligosaccharide moieties from proteins and neutral glycolipids, or from cert
- **PSAP** — Mitochondrial carrier homolog 1 [Disease-causing germline mutation(s) in]
  - Função: Protein insertase that mediates insertion of transmembrane proteins into the mitochondrial outer membrane (PubMed:36264797). Catalyzes insertion of proteins with alpha-helical transmembrane regions, s
- **GM2A** — Ganglioside GM2 activator [Disease-causing germline mutation(s) in]
  - Função: The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium-independent phospholipase activity (By similarity). Binds gangliosides and
- **GLB1** — Beta-galactosidase [Disease-causing germline mutation(s) in]
  - Função: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans Has no beta-galactosidase catalytic activity, but plays functional roles in the formation of e
- **NPC2** — NPC intracellular cholesterol transporter 2 [Disease-causing germline mutation(s) in]
  - Função: Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the lysosomal compartment (PubMed:11125141, PubMed:15937921, PubMed:
- **GALC** — Galactocerebrosidase [Disease-causing germline mutation(s) in]
  - Função: Hydrolyzes the galactose ester bonds of glycolipids such as galactosylceramide and galactosylsphingosine (PubMed:8281145, PubMed:8399327). Enzyme with very low activity responsible for the lysosomal c
- **GLA** — N-acetyltransferase 8 [Disease-causing germline mutation(s) in]
  - Função: Endoplasmic reticulum (ER)-membrane-bound lysine N-acetyltransferase catalyzing the N6-acetylation of lysine residues in the lumen of the ER in various proteins, including PROM1 and BACE1, using acety
- **HEXA** — Beta-hexosaminidase subunit alpha [Disease-causing germline mutation(s) in]
  - Função: Hydrolyzes the non-reducing end N-acetyl-D-hexosamine and/or sulfated N-acetyl-D-hexosamine of glycoconjugates, such as the oligosaccharide moieties from proteins and neutral glycolipids, or from cert
- **NPC1** — NPC intracellular cholesterol transporter 1 [Disease-causing germline mutation(s) in]
  - Função: Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment (PubMed:10821832, PubMed:1255468

## Medicamentos em desenvolvimento (8)

- MIGALASTAT HYDROCHLORIDE — Fase Phase 4 (Alpha-galactosidase A stabiliser)
- MIGLUSTAT — Fase Phase 4 (Ceramide glucosyltransferase inhibitor)
- ELIGLUSTAT — Fase Phase 4 (Ceramide glucosyltransferase inhibitor)
- TORIPALIMAB — Fase Phase 4 (Programmed cell death protein 1 antagonist)
- ATIDARSAGENE AUTOTEMCEL — Fase Phase 4 (ARSA exogenous gene)
- VENGLUSTAT — Fase Phase 3 (Ceramide glucosyltransferase inhibitor)
- MIGALASTAT — Fase Phase 3 (Alpha-galactosidase A stabiliser)
- LUCERASTAT — Fase Phase 3 (Ceramide glucosyltransferase inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0019255

## Doenças relacionadas (por similaridade fenotípica)

- [Gangliosidose GM2](https://raras.org/doenca/gangliosidose-gm2) — ORPHA:309152 — 157 sintomas em comum
- [Gangliosidose GM1](https://raras.org/doenca/gangliosidose-gm1) — ORPHA:354 — 154 sintomas em comum
- [Doença de Krabbe](https://raras.org/doenca/doenca-de-krabbe) — ORPHA:487 — 143 sintomas em comum
- [Ataxia espástica](https://raras.org/doenca/ataxia-espastica) — ORPHA:316226 — 115 sintomas em comum
- [Epilepsia, mioclonia progressiva](https://raras.org/doenca/epilepsia-mioclonia-progressiva) — ORPHA:98261 — 107 sintomas em comum
- [Síndrome distonia-plus](https://raras.org/doenca/sindrome-distonia-plus) — ORPHA:98203 — 101 sintomas em comum
- [Lipofuscinose ceroide neuronal](https://raras.org/doenca/lipofuscinose-ceroide-neuronal) — ORPHA:216 — 100 sintomas em comum
- [Síndrome Aicardi-Goutieres](https://raras.org/doenca/sindrome-aicardi-goutieres) — ORPHA:51 — 99 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 — 99 sintomas em comum
- [Leucodistrofia metacromática](https://raras.org/doenca/leucodistrofia-metacromatica) — ORPHA:512 — 98 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 — Esfingolipidose. Disponível em: https://raras.org/doenca/esfingolipidose
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