# Doença do metabolismo dos esteroides > Página oficial: https://raras.org/doenca/doenca-do-metabolismo-dos-esteroides > Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0) > Última atualização: 2026-05-07 ## Identificadores - **ORPHA**: 79226 — https://www.orpha.net/en/disease/detail/79226 - **OMIM**: none — https://omim.org/entry/none ## Descrição clínica Doença metabólica hereditária que tem como base a interrupção do processo metabólico dos esterol. ## Epidemiologia e herança ## Sinais e sintomas (677 fenótipos HPO) - **Deficiência auditiva mista** — HPO: HP:0000410 - **Dente supranumerário** — HPO: HP:0011069 - **Anormalidade da vesícula biliar** — HPO: HP:0005264 - **Gastrosquise** — HPO: HP:0001543 - **Displasia renal multicística** — HPO: HP:0000003 - **Hipertrofia clitoriana** — HPO: HP:0008665 - **Morfologia metacarpal anormal** — HPO: HP:0005916 - **Mão fendida** — HPO: HP:0001171 - **Hérnia diafragmática congênita** — HPO: HP:0000776 - **Esclerocórnea** — HPO: HP:0000647 - **Atresia de coana** — HPO: HP:0000453 - **Sonolência diurna excessiva** — HPO: HP:0001262 - **Malformação de Chiari** — HPO: HP:0002308 - **Língua bífida** — HPO: HP:0010297 - **Agenesia dentária** — HPO: HP:0009804 - **Desvio ulnar do dedo** — HPO: HP:0009465 - **Aplasia/Hipoplasia afetando o olho** — HPO: HP:0008056 - **Aplasia/Hipoplasia do rádio** — HPO: HP:0006501 - **Erupção dentária avançada** — HPO: HP:0006288 - **Hipopigmentação do cabelo** — HPO: HP:0005599 - **Morfologia anormal do cílio** — HPO: HP:0000499 - **Morfologia anormal do sistema cardiovascular** — HPO: HP:0030680 - **Anormalidade da laringe** — HPO: HP:0001600 - **Dificuldades alimentares na infância** — HPO: HP:0008872 - **Testa inclinada** — HPO: HP:0000340 - **Bochechas cheias** — HPO: HP:0000293 - **Localização anormal do rim** — HPO: HP:0100542 - **Morfologia anormal da costela** — HPO: HP:0000772 - **Coloboma da íris** — HPO: HP:0000612 - **Aplasia/Hipoplasia do cerebelo** — HPO: HP:0007360 - **Defeito do canal atrioventricular** — HPO: HP:0006695 - **Distância intermamilar ampla** — HPO: HP:0006610 - **Anormalidade do sono** — HPO: HP:0002360 - **Boca larga** — HPO: HP:0000154 - **Morfologia dentária anormal** — HPO: HP:0006482 - **Estreitamento biparietal** — HPO: HP:0004422 - **Cantos da boca voltados para baixo** — HPO: HP:0002714 - **Hipotireoidismo** — HPO: HP:0000821 - **Agitação** — HPO: HP:0000713 - **Atrofia óptica** — HPO: HP:0000648 - _...e mais 637 sintomas. Ver https://raras.org/doenca/doenca-do-metabolismo-dos-esteroides._ ## Genes associados (17) - **LBR** — Delta(14)-sterol reductase LBR [Disease-causing germline mutation(s) in] - Função: Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis (PubMed:12618959, PubMed:16784888, PubMed:21327084, PubMed:27336 - **CYP7A1** — Cytochrome P450 7A1 [Candidate gene tested in] - Função: A cytochrome P450 monooxygenase involved in the metabolism of endogenous cholesterol and its oxygenated derivatives (oxysterols) (PubMed:11013305, PubMed:12077124, PubMed:19965590, PubMed:21813643, Pu - **BAAT** — Bile acid-CoA:amino acid N-acyltransferase [Candidate gene tested in] - Função: Catalyzes the amidation of bile acids (BAs) with the amino acids taurine and glycine (PubMed:12239217, PubMed:12810727, PubMed:2037576, PubMed:8034703). More than 95% of the BAs are N-acyl amidates wi - **EPHX1** — Epoxide hydrolase 1 [Candidate gene tested in] - Função: Biotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water (By similarity). Plays a role - **FLG** — Fibroblast growth factor receptor 1 [Candidate gene tested in] - Função: Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation a - **SC5D** — Lathosterol oxidase [Disease-causing germline mutation(s) in] - Função: Catalyzes the penultimate step of the biosynthesis of cholesterol, the dehydrogenation of lathosterol into 7-dehydrocholesterol (7-DHC). Cholesterol is the major sterol component in mammalian membrane - **CYP27A1** — Sterol 26-hydroxylase, mitochondrial [Disease-causing germline mutation(s) in] - Função: Cytochrome P450 monooxygenase that catalyzes regio- and stereospecific hydroxylation of cholesterol and its derivatives. Hydroxylates (with R stereochemistry) the terminal methyl group of cholesterol - **EBP** — 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase [Disease-causing germline mutation(s) in] - Função: Isomerase that catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers a catalytic step in the postlanosterol biosynthesis of cholesterol Component of the microsomal antie - **DHCR24** — Delta(24)-sterol reductase [Disease-causing germline mutation(s) in] - Função: Catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis (PubMed:11519011, PubMed:21671375, PubMed:22178193, PubMed:25637936). In addition to its cho - **NSDHL** — Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating [Disease-causing germline mutation(s) in] - Função: Catalyzes the NAD(P)(+)-dependent oxidative decarboxylation of the C4 methyl groups of 4-alpha-carboxysterols in post-squalene cholesterol biosynthesis (By similarity). Also plays a role in the regula - **ARSL** — Arylsulfatase L [Disease-causing germline mutation(s) in] - Função: Exhibits arylsulfatase activity towards the artificial substrate 4-methylumbelliferyl sulfate (PubMed:7720070, PubMed:9497243). May be essential for the correct composition of cartilage and bone matri - **SLC10A1** — Hepatic sodium/bile acid cotransporter [Disease-causing germline mutation(s) in] - Função: As a major transporter of conjugated bile salts from plasma into the hepatocyte, it plays a key role in the enterohepatic circulation of bile salts necessary for the solubilization and absorption of d - **STS** — Steryl-sulfatase [Disease-causing germline mutation(s) in] - Função: Catalyzes the conversion of sulfated steroid precursors, such as dehydroepiandrosterone sulfate (DHEA-S) and estrone sulfate to the free steroid - **TJP2** — Tight junction protein 2 [Disease-causing germline mutation(s) in] - Função: Plays a role in tight junctions and adherens junctions (By similarity). Acts as a positive regulator of RANKL-induced osteoclast differentiation, potentially via mediating downstream transcriptional a - **MSMO1** — Methylsterol monooxygenase 1 [Disease-causing germline mutation(s) in] - Função: Catalyzes the three-step monooxygenation required for the demethylation of 4,4-dimethyl and 4alpha-methylsterols, which can be subsequently metabolized to cholesterol (PubMed:21285510, PubMed:23583456 ## Ensaios clínicos ativos (5) - **NCT01668186** [RECRUITING]: Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) — https://clinicaltrials.gov/study/NCT01668186 - **NCT06929403** [COMPLETED]: Effect of Bergamot and Plant Sterols Extract on Serum Lipid Profile — https://clinicaltrials.gov/study/NCT06929403 - **NCT05901246** [COMPLETED]: Anti-eryptotic Effect of a Food Supplement with Plants Sterols in Hypercholesterolemia Treated with Statins — https://clinicaltrials.gov/study/NCT05901246 - **NCT06697977** [ACTIVE_NOT_RECRUITING]: Effects of Phytosterol Supplementation on Liver Function and Inflammatory Status in Patients with Nonalcoholic Fatty Liver Disease — https://clinicaltrials.gov/study/NCT06697977 - **NCT06595472** [COMPLETED]: Plant Sterol-Enriched Palm Oil to Improve Lipid Profile and Inflammation in Hyperlipidemic Individuals — https://clinicaltrials.gov/study/NCT06595472 ## Centros de referência no Brasil (21) - Hospital Universitário Prof. Edgard Santos (HUPES) (Salvador/BA) - Hospital de Apoio de Brasília (HAB) (Brasília/DF) - Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA) (Vila Velha/ES) - Hospital das Clínicas da UFG (Goiânia/GO) - Hospital das Clínicas da UFMG (Belo Horizonte/MG) - NUPAD / Faculdade de Medicina UFMG (Belo Horizonte/MG) - Hospital Universitário João de Barros Barreto (Belém/PA) - Hospital de Clínicas da Universidade Federal de Pernambuco (Recife/PE) - Instituto de Medicina Integral Prof. Fernando Figueira (IMIP) (Recife/PE) - Hospital de Clínicas da UFPR (Curitiba/PR) - Hospital Universitário Pedro Ernesto (HUPE-UERJ) (Rio de Janeiro/RJ) - Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz) (Rio de Janeiro/RJ) - Hospital Universitário Onofre Lopes (HUOL) (Natal/RN) - Hospital São Lucas da PUCRS (Porto Alegre/RS) - Hospital de Clínicas de Porto Alegre (HCPA) (Porto Alegre/RS) - Hospital Universitário da UFSC (HU-UFSC) (Florianópolis/SC) - Hospital das Clínicas da FMUSP (São Paulo/SP) - Hospital de Clínicas da UNICAMP (Campinas/SP) - Hospital de Clínicas de Ribeirão Preto (HCRP-USP) (Ribeirão Preto/SP) - Instituto da Criança e do Adolescente (ICr-HCFMUSP) (São Paulo/SP) ## Doenças relacionadas (por similaridade fenotípica) - [Síndrome Smith-Lemli-Opitz](https://raras.org/doenca/sindrome-smith-lemli-opitz) — ORPHA:818 — 178 sintomas em comum - [doença da síntese de ácidos biliares](https://raras.org/doenca/doenca-da-sintese-de-acidos-biliares) — ORPHA:79168 — 137 sintomas em comum - [Condrodisplasia pontuada não-rizomélica](https://raras.org/doenca/condrodisplasia-pontuada-nao-rizomelica) — ORPHA:176 — 136 sintomas em comum - [Xantomatose cerebrotendinosa](https://raras.org/doenca/xantomatose-cerebrotendinosa) — ORPHA:909 — 113 sintomas em comum - [Síndrome Meckel](https://raras.org/doenca/sindrome-meckel) — ORPHA:564 — 98 sintomas em comum - [Síndrome de blefarofimose-perturbação do desenvolvimento intelectual](https://raras.org/doenca/sindrome-de-blefarofimose-perturbacao-do-desenvolvimento-intelectual) — ORPHA:293642 — 97 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 — 97 sintomas em comum - [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 95 sintomas em comum - [Síndrome aneuploidia variada em mosaico](https://raras.org/doenca/sindrome-aneuploidia-variada-em-mosaico) — ORPHA:1052 — 92 sintomas em comum - [Duplicação/triplicação parcial do cromossomo 5](https://raras.org/doenca/duplicacaotriplicacao-parcial-do-cromossomo-5) — ORPHA:262211 — 91 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 — Doença do metabolismo dos esteroides. Disponível em: https://raras.org/doenca/doenca-do-metabolismo-dos-esteroides **Formato HTML**: https://raras.org/doenca/doenca-do-metabolismo-dos-esteroides **Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=79226