# Dislipidemia sindrômica rara > Página oficial: https://raras.org/doenca/dislipidemia-sindromica-rara > Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0) > Última atualização: 2026-05-13 ## Identificadores - **ORPHA**: 181437 — https://www.orpha.net/en/disease/detail/181437 - **OMIM**: none — https://omim.org/entry/none ## Descrição clínica Distúrbio hereditário do metabolismo lipídico que faz parte de uma síndrome maior. ## Epidemiologia e herança ## Sinais e sintomas (989 fenótipos HPO) - **Dedo afilado** — HPO: HP:0001182 - **Aumento da suscetibilidade a fraturas** — HPO: HP:0002659 - **Sindactilia cutânea dos dedos 2-5** — HPO: HP:0005650 - **Anormalidade dos potenciais evocados visuais por padrão** — HPO: HP:0030455 - **Rizomelia** — HPO: HP:0008905 - **Concentração diminuída de renina circulante** — HPO: HP:0003351 - **Exantema morbiliforme** — HPO: HP:0012282 - **Anemia microcítica hipocrômica** — HPO: HP:0004840 - **Bruxismo** — HPO: HP:0003763 - **Fibrose hepática em ponte** — HPO: HP:0012852 - **Atrofia cerebral** — HPO: HP:0012444 - **Hiperpigmentação generalizada** — HPO: HP:0007440 - **Acidemia láctica intermitente** — HPO: HP:0004913 - **Aplasia/Hipoplasia das falanges dos dedos do pé** — HPO: HP:0010173 - **Desvio ulnar do dedo** — HPO: HP:0009465 - **Alimentação por gastrostomia na infância** — HPO: HP:0011471 - **Amelia** — HPO: HP:0009827 - **Má rotação intestinal** — HPO: HP:0002566 - **Hiperquilomicronemia** — HPO: HP:0012238 - **Baqueteamento dos pododáctilos** — HPO: HP:0100760 - **Localização anormal do rim** — HPO: HP:0100542 - **Hipsarritmia** — HPO: HP:0002521 - **Concentração elevada de colestanol no LCR** — HPO: HP:6000203 - **Tortuosidade vascular dos vasos retinianos centrais** — HPO: HP:0007768 - **Escoliose torácica** — HPO: HP:0002943 - **Hipoplasia vertebral** — HPO: HP:0008417 - **Hipotonia axial** — HPO: HP:0008936 - **Pontilhado calcificado do esqueleto cartilaginoso infantil** — HPO: HP:0005841 - **Anormalidade dos potenciais evocados somatossensoriais** — HPO: HP:0007377 - **Vértebras com fenda coronal** — HPO: HP:0003417 - **Hipercolesterolemia** — HPO: HP:0003124 - **Crise tônica** — HPO: HP:0032792 - **Tálamo hipointenso em T2** — HPO: HP:0012690 - **Concentração elevada de álcool biliar circulante** — HPO: HP:6000821 - **Mancha vermelho-cereja da mácula** — HPO: HP:0010729 - **Morfologia mitocondrial anormal** — HPO: HP:0008322 - **Fissura palpebral curta** — HPO: HP:0012745 - **Clavículas aplásticas** — HPO: HP:0006660 - **Infecções recorrentes** — HPO: HP:0002719 - **Nível elevado de colina cerebral por EMR** — HPO: HP:0012706 - _...e mais 949 sintomas. Ver https://raras.org/doenca/dislipidemia-sindromica-rara._ ## Genes associados (34) - **PGAP2** — Acyltransferase PGAP2 [Disease-causing germline mutation(s) in] - Função: Involved in the fatty acid remodeling steps of GPI-anchor maturation where the unsaturated acyl chain at sn-2 of inositol phosphate is replaced by a saturated stearoyl chain. May catalyze the second s - **LPL** — Lipoprotein lipase [Disease-causing germline mutation(s) in] - Função: Key enzyme in triglyceride metabolism. Catalyzes the hydrolysis of triglycerides from circulating chylomicrons and very low density lipoproteins (VLDL), and thereby plays an important role in lipid cl - **APOC2** — Apolipoprotein C-II [Disease-causing germline mutation(s) in] - Função: Component of chylomicrons, very low-density lipoproteins (VLDL), low-density lipoproteins (LDL), and high-density lipoproteins (HDL) in plasma. Plays an important role in lipoprotein metabolism as an - **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 - **PIGA** — Phosphatidylinositol N-acetylglucosaminyltransferase subunit A [Disease-causing germline mutation(s) in] - Função: Catalytic subunit of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidyli - **PIGV** — GPI alpha-1,6-mannosyltransferase 2 [Disease-causing germline mutation(s) in] - Função: Alpha-1,6-mannosyltransferase that catalyzes the transfer of the second mannose, via an alpha-1,6 bond, from a dolichol-phosphate-mannose (Dol-P-Man) to a 2-acyl-6-(alpha-D-mannosyl-(1->4)-alpha-D-glu - **PIGW** — Glucosaminyl-phosphatidylinositol-acyltransferase PIGW [Disease-causing germline mutation(s) in] - Função: Acyltransferase that catalyzes the acyl transfer from an acyl-CoA at the 2-OH position of the inositol ring of a 6-(alpha-D-glucosaminyl)-1-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol (glucosami - **PEX5** — Peroxisomal targeting signal 1 receptor [Disease-causing germline mutation(s) in] - Função: Receptor that mediates peroxisomal import of proteins containing a C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) (PubMed:11101887, PubMed:11336669, PubMed:12456682, PubMed:16 - **PEX7** — Peroxisomal targeting signal 2 receptor [Disease-causing germline mutation(s) in] - Função: Receptor required for the peroxisomal import of proteins containing a C-terminal PTS2-type peroxisomal targeting signal (PubMed:11931631, PubMed:22057399, PubMed:25538232, PubMed:9090381). Specificall - **PNPLA6** — Patatin-like phospholipase domain-containing protein 6 [Disease-causing germline mutation(s) in] - Função: Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Catalyzes t - **LIPA** — Lysosomal acid lipase/cholesteryl ester hydrolase [Disease-causing germline mutation(s) in] - Função: Catalyzes the deacylation of cholesteryl ester core lipids of endocytosed low density lipoproteins to generate free fatty acids and cholesterol (PubMed:15269241, PubMed:1718995, PubMed:7204383, PubMed - **SGPL1** — Sphingosine-1-phosphate lyase 1 [Disease-causing germline mutation(s) in] - Função: Cleaves phosphorylated sphingoid bases (PSBs), such as sphingosine-1-phosphate, into fatty aldehydes and phosphoethanolamine. Elevates stress-induced ceramide production and apoptosis (PubMed:11018465 - **PGAP3** — GPI-specific phospholipase A2-like PGAP3 [Disease-causing germline mutation(s) in] - Função: Involved in the fatty acid remodeling steps of GPI-anchor maturation where the unsaturated acyl chain at sn-2 of inositol phosphate is replaced by a saturated stearoyl chain (PubMed:17021251, PubMed:2 - **PIGL** — N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase [Disease-causing germline mutation(s) in] - Função: Catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminyl-phosphatidylinositol - **PIGO** — GPI ethanolamine phosphate transferase 3, catalytic subunit [Disease-causing germline mutation(s) in] - Função: Catalytic subunit of the ethanolamine phosphate transferase 3 complex that transfers an ethanolamine phosphate (EtNP) from a phosphatidylethanolamine (PE) to the 6-OH position of the third alpha-1,2-l ## Medicamentos em desenvolvimento (9) - CHENODIOL — Fase Phase 4 (Bile acid receptor FXR agonist) - VOLANESORSEN SODIUM — Fase Phase 4 (Apolipoprotein C-III mRNA 3'UTR antisense inhibitor) - CANAKINUMAB — Fase Phase 4 (Interleukin-1 beta inhibitor) - MYCOPHENOLATE MOFETIL — Fase Phase 2 (Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor) - CYCLOSPORINE — Fase Phase 2 (Cyclophilin A modulator) - METHYLPREDNISOLONE — Fase Phase 2 (Glucocorticoid receptor agonist) - SIMVASTATIN — Fase Phase 2 (HMG-CoA reductase inhibitor) - LOVASTATIN — Fase Phase 2 (HMG-CoA reductase inhibitor) - PREDNISOLONE — Fase Phase 2 (Glucocorticoid receptor agonist) - Fonte: https://platform.opentargets.org/disease/MONDO_0015905 ## Doenças relacionadas (por similaridade fenotípica) - [Síndrome Smith-Lemli-Opitz](https://raras.org/doenca/sindrome-smith-lemli-opitz) — ORPHA:818 — 178 sintomas em comum - [Síndrome de hiperfosfatemia-transtorno do desenvolvimento intelectual](https://raras.org/doenca/sindrome-de-hiperfosfatemia-transtorno-do-desenvolvimento-intelectual) — ORPHA:247262 — 164 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 — 137 sintomas em comum - [Gangliosidose GM1](https://raras.org/doenca/gangliosidose-gm1) — ORPHA:354 — 128 sintomas em comum - [Duplicação/triplicação parcial do cromossomo 5](https://raras.org/doenca/duplicacaotriplicacao-parcial-do-cromossomo-5) — ORPHA:262211 — 126 sintomas em comum - [doença da síntese de ácidos biliares](https://raras.org/doenca/doenca-da-sintese-de-acidos-biliares) — ORPHA:79168 — 121 sintomas em comum - [Síndrome de blefarofimose-perturbação do desenvolvimento intelectual](https://raras.org/doenca/sindrome-de-blefarofimose-perturbacao-do-desenvolvimento-intelectual) — ORPHA:293642 — 120 sintomas em comum - [Monossomia parcial do braço curto do cromossomo 1](https://raras.org/doenca/monossomia-parcial-do-braco-curto-do-cromossomo-1) — ORPHA:261857 — 120 sintomas em comum - [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 119 sintomas em comum - [Síndrome de Kleefstra](https://raras.org/doenca/sindrome-de-kleefstra) — ORPHA:261494 — 119 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. --- **Citação sugerida**: Raras.org — Dislipidemia sindrômica rara. Disponível em: https://raras.org/doenca/dislipidemia-sindromica-rara **Formato HTML**: https://raras.org/doenca/dislipidemia-sindromica-rara **Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=181437