# Osteogenesis imperfecta > Página oficial: https://raras.org/doenca/osteogenesis-imperfecta > Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0) > Última atualização: 2026-05-07 ## Identificadores - **ORPHA**: 666 — https://www.orpha.net/en/disease/detail/666 - **CID-10**: Q78.0 - **OMIM**: none — https://omim.org/entry/none ## Descrição clínica Displasia óssea primária rara, genética, caracterizada por um aumento da fragilidade óssea, diminuição da massa óssea e suscetibilidade a fraturas ósseas. A gravidade clínica é heterogénea. ## Epidemiologia e herança - **Prevalência**: 1-5 / 10 000 - **Padrão de herança**: Autosomal dominant, Autosomal recessive, X-linked recessive ## Sinais e sintomas (637 fenótipos HPO) - **Nistagmo** — HPO: HP:0000639 (Raro (<5%)) - **Craniossinostose orbital** — HPO: HP:0005472 - **Turricefalia** — HPO: HP:0000262 - **Craniossinostose coronal** — HPO: HP:0004440 - **Craniossinostose lambdóide** — HPO: HP:0004443 - **Asas ilíacas estreitas** — HPO: HP:0002868 - **Oligodramnia** — HPO: HP:0001562 - **Atraso no desenvolvimento motor fino** — HPO: HP:0010862 - **Mandíbula larga** — HPO: HP:0012802 - **Pé torto** — HPO: HP:0001883 - **Microcórnea** — HPO: HP:0000482 - **Osteomielite mandibular** — HPO: HP:0007626 - **Córtex dos ossos longos espessado** — HPO: HP:0000935 - **Morfologia anormal dos ossos do membro inferior** — HPO: HP:0040069 - **Acuidade visual severamente reduzida** — HPO: HP:0001141 - **Nistagmo congênito** — HPO: HP:0006934 - **Calcitriol sérico baixo** — HPO: HP:0012052 - **Vitreorretinopatia exsudativa** — HPO: HP:0030490 - **Glaucoma de ângulo fechado** — HPO: HP:0012109 - **Morfologia anormal do humor vítreo** — HPO: HP:0004327 - **Anormalidade da região do colo ou cabeça femoral** — HPO: HP:0003366 - **Apêndice cutâneo pré-auricular** — HPO: HP:0000384 - **Hérnia** — HPO: HP:0100790 - **Anormalidade da morfologia da epífise** — HPO: HP:0005930 - **Ossificação óssea anormal** — HPO: HP:0011849 - **Acuidade visual moderadamente reduzida** — HPO: HP:0030515 - **Puberdade precoce isosexual** — HPO: HP:0008236 - **Acuidade visual: percepção luminosa com projeção** — HPO: HP:0030551 - **Anormalidade da visão** — HPO: HP:0000504 - **Anormalidade do olho** — HPO: HP:0000478 - **Múltiplos sulcos palmares** — HPO: HP:0006114 - **Hipotonia do lactente** — HPO: HP:0008947 - **Múltiplos sulcos plantares** — HPO: HP:0008113 - **Anormalidade da bochecha** — HPO: HP:0004426 - **Estado de mal epiléptico** — HPO: HP:0002133 - **Ossos longos delgados com diáfises estreitas** — HPO: HP:0004993 - **Anormalidade da via intrínseca** — HPO: HP:0010989 - **Veias proeminentes no tronco** — HPO: HP:0007457 - **Infecções sinopulmonares recorrentes** — HPO: HP:0005425 - **Enfisema** — HPO: HP:0002097 - _...e mais 597 sintomas. Ver https://raras.org/doenca/osteogenesis-imperfecta._ ## Genes associados (41) - **SERPINF1** — Pigment epithelium-derived factor [Disease-causing germline mutation(s) in] - Função: Neurotrophic protein; induces extensive neuronal differentiation in retinoblastoma cells. Potent inhibitor of angiogenesis. As it does not undergo the S (stressed) to R (relaxed) conformational transi - **PLS3** — Plastin-3 [Candidate gene tested in] - Função: Actin-bundling protein - **WNT3A** — Protein Wnt-3a [Candidate gene tested in] - Função: Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/L - **DKK1** — Dickkopf-related protein 1 [Candidate gene tested in] - Função: Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6 (PubMed:220 - **POLR3A** — DNA-directed RNA polymerase III subunit RPC1 [Disease-causing germline mutation(s) in] - Função: Catalytic core component of RNA polymerase III (Pol III), a DNA-dependent RNA polymerase which synthesizes small non-coding RNAs using the four ribonucleoside triphosphates as substrates. Synthesizes - **KDELR2** — ER lumen protein-retaining receptor 2 [Disease-causing germline mutation(s) in] - Função: Membrane receptor that binds the K-D-E-L sequence motif in the C-terminal part of endoplasmic reticulum resident proteins and maintains their localization in that compartment by participating to their - **TMEM38B** — Trimeric intracellular cation channel type B [Disease-causing germline mutation(s) in] - Função: Intracellular monovalent cation channel required for maintenance of rapid intracellular calcium release. Acts as a potassium counter-ion channel that functions in synchronization with calcium release - **IFITM5** — Interferon-induced transmembrane protein 5 [Disease-causing germline mutation(s) in] - Função: Required for normal bone mineralization - **SGMS2** — Phosphatidylcholine:ceramide cholinephosphotransferase 2 [Disease-causing germline mutation(s) in] - Função: Sphingomyelin synthase that primarily contributes to sphingomyelin synthesis and homeostasis at the plasma membrane. Catalyzes the reversible transfer of phosphocholine moiety in sphingomyelin biosynt - **PLOD2** — Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 [Disease-causing germline mutation(s) in] - Função: Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular - **PYCR1** — Pyrroline-5-carboxylate reductase 1, mitochondrial [Disease-causing germline mutation(s) in] - Função: Oxidoreductase that catalyzes the last step in proline biosynthesis, which corresponds to the reduction of pyrroline-5-carboxylate to L-proline using NAD(P)H (PubMed:16730026, PubMed:19648921, PubMed: - **ANO5** — Anoctamin-5 [Disease-causing germline mutation(s) in] - Função: Plays a role in plasma membrane repair in a process involving annexins (PubMed:33496727). Does not exhibit calcium-activated chloride channel (CaCC) activity - **GORAB** — RAB6-interacting golgin [Disease-causing germline mutation(s) in] - **XYLT2** — Xylosyltransferase 2 [Disease-causing germline mutation(s) in] - Função: Catalyzes the first step in the biosynthesis of chondroitin sulfate, heparan sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues o - **NBAS** — NBAS subunit of NRZ tethering complex [Disease-causing germline mutation(s) in] - Função: Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ## Medicamentos em desenvolvimento (13) - RALOXIFENE HYDROCHLORIDE — Fase Phase 4 (Estrogen receptor beta modulator) - ESTROGENS, CONJUGATED — Fase Phase 4 (Estrogen receptor agonist) - DENOSUMAB — Fase Phase 4 (Tumor necrosis factor ligand superfamily member 11 inhibitor) - ESTRADIOL — Fase Phase 4 (Estrogen receptor alpha agonist) - RISEDRONATE SODIUM — Fase Phase 4 (Farnesyl diphosphate synthase inhibitor) - ROMOSOZUMAB — Fase Phase 4 (Sclerostin inhibitor) - IBANDRONATE SODIUM — Fase Phase 4 (Farnesyl diphosphate synthase inhibitor) - CALCITONIN SALMON — Fase Phase 4 (Calcitonin receptor agonist) - ZOLEDRONIC ACID — Fase Phase 4 (Farnesyl diphosphate synthase inhibitor) - TERIPARATIDE — Fase Phase 4 (Parathyroid hormone receptor agonist) - Fonte: https://platform.opentargets.org/disease/MONDO_0019019 ## Ensaios clínicos ativos (24) - **NCT07062588** [RECRUITING]: Osteogenesis Imperfecta Trial of AGA2115 for ADUlts With COL1A1 and/or COL1A2 GeNetic Variations (IDUN) — https://clinicaltrials.gov/study/NCT07062588 - **NCT05972551** [RECRUITING]: Study to Evaluate Efficacy and Safety of Romosozumab Compared With Bisphosphonates in Children and Adolescents With Osteogenesis Imperfecta — https://clinicaltrials.gov/study/NCT05972551 - **NCT07366086** [RECRUITING]: Pediatric Safety Follow-up Study of Prior Treatment With Romosozumab for Osteogenesis Imperfecta — https://clinicaltrials.gov/study/NCT07366086 - **NCT07478224** [RECRUITING]: An Interventional Study to Evaluate the Impact of Blood Flow Restriction Training on Muscle, Bone, and Quality of Life in Adults With Osteogenesis Imperfecta Type I — https://clinicaltrials.gov/study/NCT07478224 - **NCT07412782** [RECRUITING]: REMS25: Study on the Use of REMS Technology in Diseases Commonly Associated With Reduced Bone Mineral Density (BMD) — https://clinicaltrials.gov/study/NCT07412782 - **NCT07287241** [RECRUITING]: Prospective Observational Cohort Study of Cardiac Structure and Function in Children and Adults With Osteogenesis Imperfecta — https://clinicaltrials.gov/study/NCT07287241 - **NCT04152551** [RECRUITING]: Effects of Bisphosphonates on OI-Related Hearing Loss — https://clinicaltrials.gov/study/NCT04152551 - **NCT04115774** [RECRUITING]: Registry of Osteogenesis Imperfecta — https://clinicaltrials.gov/study/NCT04115774 - **NCT05419960** [RECRUITING]: Audio-vestibular Evaluation of Children and Young Adults With Osteogenesis Imperfecta — https://clinicaltrials.gov/study/NCT05419960 - **NCT02432625** [RECRUITING]: BBD Longitudinal Study of Osteogenesis Imperfecta — https://clinicaltrials.gov/study/NCT02432625 ## Centros de referência no Brasil (24) - Hospital Universitário Prof. Edgard Santos (HUPES) (Salvador/BA) - Hospital Infantil Albert Sabin (Fortaleza/CE) - 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 Universitário da UFJF (Juiz de Fora/MG) - Hospital das Clínicas da UFMG (Belo Horizonte/MG) - Hospital Universitário Julio Müller (HUJM) (Cuiabá/MT) - Hospital Universitário João de Barros Barreto (Belém/PA) - Hospital Universitário Lauro Wanderley (HULW) (João Pessoa/PB) - Instituto de Medicina Integral Prof. Fernando Figueira (IMIP) (Recife/PE) - Hospital Pequeno Príncipe (Curitiba/PR) - Hospital Universitário Regional de Maringá (HUM) (Maringá/PR) - 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 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) ## Doenças relacionadas (por similaridade fenotípica) - [Síndrome Wiedemann-Rautenstrauch](https://raras.org/doenca/sindrome-wiedemann-rautenstrauch) — ORPHA:3455 — 187 sintomas em comum - [Cutis laxa autossômica recessiva tipo 2A](https://raras.org/doenca/cutis-laxa-autossomica-recessiva-tipo-2a) — ORPHA:357058 — 129 sintomas em comum - [Síndrome Ehlers-Danlos espondilodisplásico B4GALT7-relacionado](https://raras.org/doenca/sindrome-ehlers-danlos-espondilodisplasico-b4galt7-relacionado) — ORPHA:75496 — 123 sintomas em comum - [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 106 sintomas em comum - [Síndrome de blefarofimose-perturbação do desenvolvimento intelectual](https://raras.org/doenca/sindrome-de-blefarofimose-perturbacao-do-desenvolvimento-intelectual) — ORPHA:293642 — 100 sintomas em comum - [Síndrome cardio-facio-cutâneo](https://raras.org/doenca/sindrome-cardio-facio-cutaneo) — ORPHA:1340 — 96 sintomas em comum - [Trissomia parcial do braço curto do cromossomo 16](https://raras.org/doenca/trissomia-parcial-do-braco-curto-do-cromossomo-16) — ORPHA:262794 — 96 sintomas em comum - [Trissomia parcial do cromossomo 16](https://raras.org/doenca/trissomia-parcial-do-cromossomo-16) — ORPHA:262672 — 96 sintomas em comum - [Duplicação/triplicação parcial do cromossomo 5](https://raras.org/doenca/duplicacaotriplicacao-parcial-do-cromossomo-5) — ORPHA:262211 — 96 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 — 95 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 — Osteogenesis imperfecta. Disponível em: https://raras.org/doenca/osteogenesis-imperfecta **Formato HTML**: https://raras.org/doenca/osteogenesis-imperfecta **Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=666