Raras
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Dentinogenesis imperfecta
ORPHA:49042CID-10 · K00.5CID-11 · LA30.8DOENÇA RARA

A dentinogênese imperfeita (DGI) é um defeito hereditário da dentina caracterizado pela estrutura anormal da dentina, resultando no desenvolvimento anormal do dente.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A dentinogênese imperfeita (DGI) é um defeito hereditário da dentina caracterizado pela estrutura anormal da dentina, resultando no desenvolvimento anormal do dente.

Publicações científicas
717 artigos
Último publicado: 2026

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-5 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
14.5
Europe
Início
Childhood
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: K00.5
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦷
Dentes
12 sintomas
🦴
Ossos e articulações
5 sintomas
👂
Ouvidos
4 sintomas
😀
Face
1 sintomas
🫘
Rins
1 sintomas
🩸
Sangue
1 sintomas

+ 4 sintomas em outras categorias

Características mais comuns

90%prev.
Obliteracão da câmara pulpar
Muito frequente (99-80%)
90%prev.
Anormalidade da raiz dentária
Muito frequente (99-80%)
55%prev.
Anormalidade da polpa dentária
Frequente (79-30%)
55%prev.
Descoloração amarelo-acastanhada dos dentes
Frequente (79-30%)
55%prev.
Hipermobilidade articular
Frequente (79-30%)
55%prev.
Hipoplasia generalizada do esmalte dentário
Frequente (79-30%)
28sintomas
Muito frequente (2)
Frequente (9)
Ocasional (7)
Muito raro (3)
Sem dados (7)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 28 características clínicas mais associadas, ordenadas por frequência.

Obliteracão da câmara pulparObliteration of the pulp chamber
Muito frequente (99-80%)90%
Anormalidade da raiz dentáriaAbnormality of the dental root
Muito frequente (99-80%)90%
Anormalidade da polpa dentáriaAbnormality of the dental pulp
Frequente (79-30%)55%
Descoloração amarelo-acastanhada dos dentesYellow-brown discoloration of the teeth
Frequente (79-30%)55%
Hipermobilidade articularJoint hypermobility
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico717PubMed
Últimos 10 anos200publicações
Pico202434 papers
Linha do tempo
2026Hoje · 2026🧪 2019Primeiro ensaio clínico📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.

DSPPDentin sialophosphoproteinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

DSP may be an important factor in dentinogenesis. DPP may bind high amount of calcium and facilitate initial mineralization of dentin matrix collagen as well as regulate the size and shape of the crystals

LOCALIZAÇÃO

Secreted, extracellular space, extracellular matrix

VIAS BIOLÓGICAS (1)
ECM proteoglycans
MECANISMO DE DOENÇA

Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1

A disorder characterized by the association of progressive sensorineural high-frequency hearing loss with dentinogenesis imperfecta.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Não detectado)
Testículo
0.1 TPM
Aorta
0.0 TPM
Artéria tibial
0.0 TPM
Artéria coronária
0.0 TPM
Nervo tibial
0.0 TPM
OUTRAS DOENÇAS (5)
dentin dysplasia type IIdeafness, autosomal dominant 39, with dentinogenesis imperfecta 1dentinogenesis imperfecta type 2dentinogenesis imperfecta type 3
HGNC:3054UniProt:Q9NZW4

Variantes genéticas (ClinVar)

149 variantes patogênicas registradas no ClinVar.

🧬 DSPP: NM_014208.3(DSPP):c.3047del (p.Ser1016fs) ()
🧬 DSPP: NM_014208.3(DSPP):c.52-1G>A ()
🧬 DSPP: NM_014208.3(DSPP):c.905A>G (p.Lys302Arg) ()
🧬 DSPP: NM_014208.3(DSPP):c.818G>A (p.Ser273Asn) ()
🧬 DSPP: NM_014208.3(DSPP):c.1141C>T (p.Pro381Ser) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 66 variantes classificadas pelo ClinVar.

63
3
Patogênica (95.5%)
VUS (4.5%)
VARIANTES MAIS SIGNIFICATIVAS
DMP1-AS1: NM_014208.3(DSPP):c.3047del (p.Ser1016fs) [Pathogenic]
DMP1-AS1: NM_014208.3(DSPP):c.3682_3685del (p.Ser1228fs) [Pathogenic]
DMP1-AS1: NM_014208.3(DSPP):c.2827del (p.Asp943fs) [Pathogenic]
DMP1-AS1: NM_014208.3(DSPP):c.2652del (p.Asp884fs) [Pathogenic]
DMP1-AS1: NM_014208.3(DSPP):c.2483del (p.Asn828fs) [Pathogenic]

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Dentinogenesis imperfecta

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

2 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
293 papers (10 anos)
#1

Beyond the diagnosis: Unraveling DSPP genotype-phenotype correlations in dentin dysplasia and dentinogenesis imperfecta.

The Japanese dental science review2026 Dec

The DSPP gene regulates dentin mineralisation, and its pathogenic variants cause a spectrum of defects ranging from dentin dysplasia (DD-II) to dentinogenesis imperfecta (DGI-II/III). Clinical variability often confounds diagnosis. This systematic review of 48 publications (70 variants, 99 records) delineates quantitative genotype-phenotype correlations. Results revealed distinct molecular clustering: Exon 5 harboured 61 % of variants, predominantly frameshifts disrupting the repetitive dentin phosphoprotein (DPP) domain. In contrast, upstream regions (exons 2-4) contained mixed variant types affecting the signal peptide and dentin sialoprotein (DSP). Statistical analysis established a definitive severity gradient. Exon 5 frameshifts were significantly associated with the milder DD-II, characterised by thistle-shaped pulps and clinically normal permanent dentition. Conversely, upstream signal peptide, splice site, and missense variants (exons 2-3) were linked to the severe DGI-III, manifesting as 'shell teeth', rapid attrition, and pulp exposure requiring complex prosthodontic intervention. DGI-II displayed no specific genomic clustering, representing an intermediate phenotype. These findings provide complementary insights to historical classifications, highlighting a continuous spectrum of DSPP disorders where upstream defects cause severe failure, while downstream defects result in attenuated localised anomalies. Consequently, integrating DSPP genotyping into diagnostic workflows is essential to predict disease progression, refine molecular taxonomy beyond the Shields system, and guide personalised rehabilitation.

#2

Diagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants.

Journal of medical genetics2026 Mar 12

Variants in the dentin sialophosphoprotein (DSPP) gene are associated with dentin dysplasia type II (DD-II; OMIM # 125420) and dentinogenesis imperfecta (DI) types II (OMIM # 125490) and III (OMIM # 125500). DSPP encodes a precursor protein cleaved into three dentin matrix proteins: dentin sialoprotein (DSP), dentin phosphoprotein/phosphophoryn (DPP) and dentin glycoprotein (DGP). Exon 5 contains over 200 tandem 9-base pair repeats (DSS domain), complicating sequencing with standard methods. We studied 112 individuals (42 index cases and 70 relatives) with clinical signs of DI or DD. DNA extracted from saliva was analysed using the GenoDENT next-generation sequencing panel. For inconclusive cases, long-range PCR and Oxford Nanopore Technology (ONT) long-read sequencing were used to overcome limitations in analysing the repetitive DSPP region. Pathogenic or likely pathogenic DSPP variants were identified in 41 families, including 8 known and 14 novel variants. Most were in exon 5, causing frameshifts resulting in a -1 reading-frame shift with a hydrophobic C-terminal extension and termination at a downstream stop codon. ONT sequencing enabled detection in cases where short-read methods failed. Several variants showed familial segregation and variable expressivity. This study demonstrates the value of long-read sequencing to resolve complex DSPP regions and expands the variant spectrum. The variability in clinical presentation suggests the influence of modifier factors, warranting further genotype-phenotype studies.

#3

Multiscale effects of dentinogenesis imperfecta on elastic properties and mineralization: A pilot study on primary dentin with a COL1A2 variant.

Dental materials : official publication of the Academy of Dental Materials2026 Feb 27

Dentinogenesis Imperfecta (DI) is a rare genetic disorder characterized by dentin hypomineralisation. While DI is known to impair dentin's mechanical properties of the tissue and cause multiple tooth fractures, the microstructural origins of dentin fragility remain poorly understood. To address this gap,we conducted a pilot study comparing primary healthy dentin (n=4 - four incisors) and dentin affected by DI associated with a COL1A2 variant (DI type I, n=4 - two canines and two molars) using thermogravimetry and backscattered electron scanning microscopy to quantify mineralization at macroscale and microscale. We further assessed mechanical properties using nanoindentation to evaluate the effect of mineralization changes. Unlike prior studies, we found that our DI group exhibits 8% higher mineralization of the bulk of the tissue; however shows a 34% reduction in effective nanohardness. At the microscale, the DI group displays profound mineralization heterogeneities with hypermineralized zones exhibiting twice the nanohardness of hypomineralized zones. Our findings show that cracks predominantly propagate in these hypermineralized zones in DI samples, particularly beneath the dentin-enamel junction, where cracks can cause enamel detachment. These findings suggest that, for the DI group with the COL1A2 variant studied, mineralization heterogeneities, rather than bulk mineral content, is the key determinant of fragility. They provide preliminary results to investigate the mechanistic origins of crack propagation of this DI phenotype, that could be further supported by broadening the sample size and ensuring tooth-type consistency.

#4

A radiological case series of three siblings with osteogenesis imperfecta and shared paternal inheritance.

Radiology case reports2026 May

Osteogenesis imperfecta (OI), or brittle bone disease, is a genetically inherited connective tissue syndrome that manifests through autosomal dominant or recessive patterns. We present an unusual case involving three siblings with the same father but different mothers. The patients had extremely short stature, recurrent fractures, and varying degrees of severity of OI, in addition to distinctive features such as blue sclera and dentinogenesis imperfecta. The radiographic skeletal surveys revealed the characteristic features of OI in all three siblings. The patients exhibited Wormian bones, multiple fractures with callus formation, bowing of the long bones, accordion ribs, platyspondyly, and kyphoscoliosis. The patients were admitted for inpatient administration of two doses of intravenous zoledronic acid, allowing for monitoring of potential adverse effects. At the 7-month follow-up, the patients reported a reduction in fractures and a notable improvement in their ability to perform daily activities, including the capacity to sit without assistance. The patients did not experience any significant adverse effects from the zoledronic acid. Radiology is vital for diagnosing OI as it highlights the unique skeletal patterns, assists in identifying the specific OI phenotype, and evaluates the severity, particularly when genetic testing is inaccessible.

#5

A rare 5'UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta: a roadmap for RNA therapeutic rescue.

Scientific reports2026 Jan 06

Osteogenesis imperfecta (OI) is a rare genetically heterogeneous connective tissue disorder primarily characterized by bone fragility, along with additional features such as blue sclerae, short stature, and dentinogenesis imperfecta. Although OI mainly presents an autosomal dominant inheritance pattern, over the past two decades, at least 17 genes have been implicated in autosomal recessive OI. In this study, we identified a novel homozygous non-coding variant, c.-167C > T, in the 5' untranslated region (5'UTR) of the SEC24D gene in a family with three affected individuals exhibiting a severe form of OI, craniofacial malformations and skull ossification defects. This is the first reported homozygous pathogenic non-coding variant in SEC24D, expanding the genetic landscape of OI. The variant is located in-frame with the opening reading frame and predicted to introduce a new upstream translation start codon (uATG) in the 5'UTR, disturbing the translational efficiency of the canonical initiation codon, a mechanism with direct implications for RNA-based therapeutic approach. Functional studies in patient-derived fibroblasts confirmed that SEC24D protein expression was significantly reduced while mRNA levels remained unchanged, suggesting a post-transcriptional regulatory mechanism. To address this translational defect, we designed and evaluated antisense oligonucleotides (ASOs) to modulate the translation of SEC24D. ASO treatment successfully increased SEC24D protein levels, demonstrating the potential of RNA-based therapies to modulate translation in genetic disorders caused by non-coding variants. Our findings provide a proof of concept for RNA-targeted therapeutics in OI, reinforcing the importance of investigating non-coding regions in genetic disease mechanisms. These results open new avenues for personalized RNA therapy in conditions linked to translational dysregulation.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC337 artigos no totalmostrando 198

2026

Diagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants.

Journal of medical genetics
2026

Calcium phosphate polymer induced liquid precursor improves dentin bonding performance of primary teeth with dentinogenesis imperfecta type II.

BMC oral health
2026

Multiscale effects of dentinogenesis imperfecta on elastic properties and mineralization: A pilot study on primary dentin with a COL1A2 variant.

Dental materials : official publication of the Academy of Dental Materials
2026

Splicing mutation in DSPP causes dentinogenesis imperfecta and amelogenesis imperfecta.

BMC oral health
2026

A radiological case series of three siblings with osteogenesis imperfecta and shared paternal inheritance.

Radiology case reports
2026

Beyond the diagnosis: Unraveling DSPP genotype-phenotype correlations in dentin dysplasia and dentinogenesis imperfecta.

The Japanese dental science review
2025

Clinical diagnosis and challenges in management of Osteogenesis Imperfecta in a resource-limited setting - A case report and review of literature.

International journal of surgery case reports
2026

A rare 5'UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta: a roadmap for RNA therapeutic rescue.

Scientific reports
2025

Osteogenesis Imperfecta with Pes Equinovarus: A Rare Combination and a Rare Col1a1 Variant.

Journal of clinical research in pediatric endocrinology
2026

Restoring Cell-Cell Junctions in DSPP-Deficient Odontoblasts Through Nanofibrous Topography and Wnt5a-Cdc42 Activation: A Laboratory Investigation.

International endodontic journal
2025

Inositol-requiring enzyme 1 alpha is essential for dentinogenesis.

Frontiers in physiology
2026

Exfoliation of primary dentition in children with Osteogenesis Imperfecta medicated with bisphosphonates.

European journal of paediatric dentistry
2026

A UK-based consensus on clinical decision flowcharts for managing childhood amelogenesis imperfecta in the permanent dentition.

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry
2025

Baseline Characteristics of the TOPaZ Study: Randomised Trial of Teriparatide and Zoledronic Acid Compared with Standard Care in Adults with Osteogenesis Imperfecta.

Calcified tissue international
2025

Physiology of dentinogenesis and pathophysiology of dentinogenesis imperfecta: how does it affect dentin structure and biomechanics?

Acta biomaterialia
2025

[Case report of dentinogenesis imperfecta and review of literature].

Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology
2025

Functional and Aesthetic Treatment of Patients With Tooth Structure Anomalies: A Narrative Review.

Cureus
2025

Unveiling Novel DSPP Variants and Dental Phenotypes in Dentinogenesis Imperfecta.

Journal of oral pathology &amp; medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
2025

Guided Endodontics in Managing Root Canal Treatment for Anomalous Teeth-A Narrative Review.

Australian endodontic journal : the journal of the Australian Society of Endodontology Inc
2025

A Novel DSPP Mutation in Dentinogenesis Imperfecta Shields Type II: Clinical, Genetic and Stem Cell Perspectives.

International dental journal
2025

Lumbar disc herniation in osteogenesis imperfecta associated with a COL1A1 frameshift mutation: A case report and review.

Medicine
2025

New Immunohistochemical Findings on Amelogenin and Dentin Sialophosphoprotein in Genetic Tooth Diseases.

International dental journal
2025

Osteogenesis imperfecta: pathogenesis, classification, and treatment.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
2025

COL1-related overlap disorder: An emerging phenotype linked to mono- and bi-allelic COL1A1/2 variants.

Archives of oral biology
2025

Effects of dentinogenesis imperfecta, sex, and tooth type on the compositional and structural organization of the dentin-enamel junction in the osteogenesis imperfecta murine model.

Archives of oral biology
2025

[Genetic analysis of a family with Dentinogenesis imperfecta type Ⅰ caused by a novel mutation in the COL1A2 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

Personalized Bonding Approach for Full-Mouth Adhesive Rehabilitation in Dentinogenesis Imperfecta.

Clinical case reports
2025

Dentinogenesis imperfecta type II dentin: nanostructural mechanics analysis.

BMC oral health
2025

Towards a Modernized Framework of Histology Teaching to Integrate Genetics: Pedagogical Perspectives for Oral Histology.

Genes
2025

Perceived oral care needs and concerns of individuals with osteogenesis imperfecta.

British dental journal
2025

Functions of secretory calcium-binding phosphoproteins in dental mineralization.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2025

The Spectra of Pathogenic Variants and Phenotypes in a Chinese Cohort of 298 Families with Osteogenesis Imperfecta.

Genes
2025

Blue Sclera to Brittle Bones: A Rare Case of Osteogenesis Imperfecta With Dentinogenesis Imperfecta and Nephrocalcinosis.

Journal of investigative medicine high impact case reports
2025

Prosthetic Rehabilitation of Three Dentinogenesis Imperfecta Patients using Hobo Twin Stage Technique and Implant Supported Overdenture - A Case Report.

Indian journal of dental research : official publication of Indian Society for Dental Research
2025

A family study of dentinogenesis imperfecta shields type II caused by a novel DSPP mutation and investigations on the isolated stem cells from human exfoliated deciduous teeth.

BMC oral health
2025

Deciphering the phenotypic spectrum associated with MIA3-related odontochondrodysplasia.

Journal of human genetics
2025

COL1A1 and COL1A2 Gene Variants Causing Osteogenesis Imperfecta in a Major Referral Center of India.

American journal of medical genetics. Part A
2025

A Novel Variant in Dentin Sialophosphoprotein (DSPP) Gene Causes Dentinogenesis Imperfecta Type III: Case Report.

Molecular genetics &amp; genomic medicine
2024

Enhancing Localized, Occlusal Space by Relative Axial Tooth Movement in Patient with Dentinogenesis Imperfecta-A Case Report.

Journal of pharmacy &amp; bioallied sciences
2025

Dental Management of Genetic Dental Disorders: A Critical Review.

Journal of dental research
2025

The genetics of non-syndromic dentinogenesis imperfecta: a systematic review.

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry
2024

Childhood early oral ageing syndrome: prevalence and association with possible aetiological factors and consequences for the vertical dimension of occlusion: protocol for a cross-sectional study.

BMJ open
2024

Progress in the pathogenic mechanism, histological characteristics of hereditary dentine disorders and clinical management strategies.

Frontiers in cell and developmental biology
2025

Investigation of oral health findings and genotype correlations in osteogenesis imperfecta.

Odontology
2024

Osteogenesis imperfecta in Peruvian children: Phenotypic and therapeutic insights from a pediatric hospital.

Intractable &amp; rare diseases research
2024

Dentinogenesis imperfecta in a 6-year-old male neutered Labrador retriever: Case report with atypical clinical presentation and treatment review.

Frontiers in veterinary science
2024

Endodontic Management of Dentinogenesis Imperfecta Using Guided Endodontics: A Case Report.

Iranian endodontic journal
2024

Genotype-phenotype correlations in 294 pediatric patients with osteogenesis imperfecta.

JBMR plus
2025

Oral Health-Related Quality of Life in Dutch Adults With Osteogenesis Imperfecta.

Oral diseases
2024

Zebrafish Models for Skeletal and Extraskeletal Osteogenesis Imperfecta Features: Unveiling Pathophysiology and Paving the Way for Drug Discovery.

Calcified tissue international
2024

Dental Abnormalities in Osteogenesis Imperfecta: A Systematic Review.

Calcified tissue international
2025

Organotypic 3D Cellular Models Mimicking the Epithelio-Ectomesenchymal Bilayer During Odontogenesis.

Tissue engineering. Part A
2024

Rare diseases: a challenge in paediatric dentistry.

European journal of paediatric dentistry
2024

Orofacial Features, Oral Health-Related Quality of Life, and Exposure to Bullying in Osteogenesis Imperfecta: A Cross-Sectional Study.

Children (Basel, Switzerland)
2024

Skeletal and Non-skeletal Phenotypes in Children with Osteogenesis Imperfecta.

Calcified tissue international
2024

A standard set of outcome measures for the comprehensive assessment of oral health and occlusion in individuals with osteogenesis imperfecta.

Orphanet journal of rare diseases
2024

Pretreatments to bonding on enamel and dentin disorders: a systematic review.

Evidence-based dentistry
2024

Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype Correlation.

Journal of clinical research in pediatric endocrinology
2024

Optimising Health-Related Quality of Life in Children With Osteogenesis Imperfecta.

Calcified tissue international
2024

Extra-Skeletal Manifestations in Osteogenesis Imperfecta Mouse Models.

Calcified tissue international
2024

Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling.

Clinical oral investigations
2024

Regenerative Endodontic Procedures in Immature Teeth Affected by Regional Odontodysplasia.

Journal of endodontics
2024

A novel compound heterozygous variation in the FKBP10 gene causes Bruck syndrome without congenital contractures: A case report.

Heliyon
2024

Orthodontic treatment of a patient with dentinogenesis imperfecta using a clear aligner system.

Journal of the American Dental Association (1939)
2024

A homozygous SP7/OSX mutation causes osteogenesis and dentinogenesis imperfecta with craniofacial anomalies.

JBMR plus
2024

Dentinogenesis imperfecta: case report with nanoceramic resin crowns restorative treatment.

The Journal of clinical pediatric dentistry
2024

The Role of DSPP in Dentine Formation and Hereditary Dentine Defects.

The Chinese journal of dental research
2024

Z-osteotomy for uniplanar femoral shaft deformity correction in an adolescent with osteogenesis imperfecta.

Medical journal, Armed Forces India
2024

An Aesthetic and Economic Approach of Smile Designing for a Patient With Dentinogenesis Imperfecta: A Rare Case Entity.

Cureus
2024

The impact of craniofacial and dental osteogenesis imperfecta manifestations on oral health-related quality of life of children and adolescents.

Clinical oral investigations
2024

Establishment of a clinical network for children with amelogenesis imperfecta and dentinogenesis imperfecta in the UK: 4-year experience.

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry
2024

A novel approach to full-mouth rehabilitation of dentinogenesis imperfecta type II: Case series with review of literature.

Medicine
2024

Regenerative Endodontic Treatment in Dentinogenesis Imperfecta-Induced Apical Periodontitis.

Case reports in dentistry
2023

Discrepancies in the Phenotypical Classification of Osteogenesis Imperfecta in a Patient with COL1A2 Mutation: A Case Report.

The American journal of case reports
2024

Dental Abnormalities in Two Dental-Skeletal-Retinal Anomaly-Positive Cane Corso Dogs: A Case Series.

Journal of veterinary dentistry
2023

Comprehensive Preventive and Therapeutic Oral Health Care: A Case Report of Mucopolysaccharidosis Type IV A in a Pediatric Patient.

Puerto Rico health sciences journal
2023

A Review of Selected Dental Anomalies With Histologic Features in the Pediatric Patient.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2024

Long-term follow-up of severe autosomal recessive SP7-related bone disorder.

Bone
2024

Dentinogenesis Imperfecta in a 1-Year-Old Female Labrador Retriever Dog: A Case Report and Literature Review.

Journal of veterinary dentistry
2023

Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.

European journal of medical genetics
2023

Loss of Bmp2 impairs odontogenesis via dysregulating pAkt/pErk/GCN5/Dlx3/Sp7.

Research square
2023

Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports.

European journal of medical genetics
2023

Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management.

European journal of medical genetics
2023

Dysregulation of MicroRNAs in Adult Osteogenesis Imperfecta: The miROI Study.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2023

Dental anomalies in individuals with osteogenesis imperfecta: a systematic review and meta-analysis of prevalence and comparative studies.

Journal of applied oral science : revista FOB
2024

Dental tissue changes in juvenile and adult mice with osteogenesis imperfecta.

Anatomical record (Hoboken, N.J. : 2007)
2023

[Recognition on dentin dysplasia type Ⅱ].

Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology
2023

Chapter 4: Development Defects of Enamel and Dentine and Coronal Caries.

Monographs in oral science
2023

Morphological and Ultrastructural Collagen Defects: Impact and Implications in Dentinogenesis Imperfecta.

Dentistry journal
2023

Intracranial aneurysm as a possible complication of osteogenesis imperfecta: a case series and literature review.

Endocrine journal
2023

Hereditary dentin defects with systemic diseases.

Oral diseases
2023

Novel dentin sialophosphoprotein gene frameshift mutations affect dentin mineralization.

Archives of oral biology
2023

Dentin defects caused by a Dspp-1 frameshift mutation are associated with the activation of autophagy.

Scientific reports
2023

Identification of DSPP novel variants and phenotype analysis in dentinogenesis dysplasia Shields type II patients.

Clinical oral investigations
2023

AAV6-Mediated Gene Therapy Prevents Developmental Dentin Defects in a Dentinogenesis Imperfecta Type Ⅲ Mouse Model.

Human gene therapy
2023

[Progress in the classification of hereditary dentin disorders and clinical management strategies].

Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology
2023

Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.

Journal of dental research
2023

Systematic review of health related-quality of life in adults with osteogenesis imperfecta.

Orphanet journal of rare diseases
2023

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients.

European journal of medical genetics
2023

[Mutation of dentin sialophosphoprotein and hereditary malformations of dentin].

Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology
2023

A novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies.

Oral diseases
2023

Dental Anomalies in a Sample of Lebanese Children: a Retrospective Study.

Materia socio-medica
2022

Evaluating the Prevalence and Distribution of Dental Anomalies in the Permanent Dentition of Patients Seeking Dental Care.

Cureus
2023

Withdrawal: A novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies.

Oral diseases
2022

COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report.

Frontiers in surgery
2023

The First Compound Heterozygous Mutations of DMP1 Causing Rare Autosomal Recessive Hypophosphatemic Rickets Type 1.

The Journal of clinical endocrinology and metabolism
2022

The paediatric dentistry-restorative dentistry interface.

British dental journal
2022

A Review of Dentinogenesis Imperfecta and Primary Dentin Disorders in Dogs.

Journal of veterinary dentistry
2022

[Clinical and genetic analysis of a pedigree affected with hereditary dentinogenesis imperfecta type II].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2022

The role of Dentin Sialophosphoprotein (DSPP) in craniofacial development.

Journal of oral biology and craniofacial research
2022

Morphological Study of Dental Structure in Dentinogenesis Imperfecta Type I with Scanning Electron Microscopy.

Healthcare (Basel, Switzerland)
2023

Osteogenesis Imperfecta Diagnosed in an Active Duty Female Due to CREB3L1 Heterozygosity.

Military medicine
2022

Craniofacial and dental phenotype of two girls with osteogenesis imperfecta due to mutations in CRTAP.

Bone
2022

Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I.

Molecular genetics &amp; genomic medicine
2022

Translated Mutant DSPP mRNA Expression Level Impacts the Severity of Dentin Defects.

Journal of personalized medicine
2022

Interdisciplinary Management of a Patient with Dentinogenesis Imperfecta Type II Using a Combination of CAD-CAM and Analog Techniques: A Clinical Report.

Journal of prosthodontics : official journal of the American College of Prosthodontists
2022

The Modified Shields Classification and 12 Families with Defined DSPP Mutations.

Genes
2022

Genotype-Phenotype Relationship and Follow-up Analysis of a Chinese Cohort With Osteogenesis Imperfecta.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
2022

Pattern and prevalence of dental anomalies among a paediatric population in Lagos, Nigeria.

The Nigerian postgraduate medical journal
2022

Micro-CT study on isolated teeth with hereditary dentin defects.

Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology
2022

Metaphyseal and posterior rib fractures in osteogenesis imperfecta: Case report and review of the literature.

Bone reports
2022

The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry.

American journal of medical genetics. Part A
2021

Prevalence and Distribution of Selected Dental Anomalies in the Patients Reporting to Dental Institute, RIMS, Ranchi.

Journal of pharmacy &amp; bioallied sciences
2021

Differential lncRNA/mRNA Expression Profiling and Functional Network Analyses in Bmp2 Deletion of Mouse Dental Papilla Cells.

Frontiers in genetics
2021

Phenotype and molecular characterizations of a family with dentinogenesis imperfecta shields type II with a novel DSPP mutation.

Annals of translational medicine
2021

Clear Aligners in Patients with Amelogenesis and Dentinogenesis Imperfecta.

International journal of dentistry
2021

Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.

Molecular syndromology
2021

Clinical Manifestations and Medical Imaging of Osteogenesis Imperfecta: Fetal Through Adulthood.

Acta medica academica
2022

Oral health-related quality of life in children with osteogenesis imperfecta.

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry
2021

Dentinogenesis imperfecta type 2: a case report.

General dentistry
2022

Pamidronate Therapy Increases Trabecular Bone Complexity of Mandibular Condyles in Individuals with Osteogenesis Imperfecta.

Calcified tissue international
2021

Osteogenesis imperfecta type III: Oral, craniofacial characteristics and atypical radiographic findings oral.

Journal of clinical and experimental dentistry
2021

Mouse Dspp frameshift model of human dentinogenesis imperfecta.

Scientific reports
2021

Enamel Defects Associated With Dentin Sialophosphoprotein Mutation in Mice.

Frontiers in physiology
2021

Effects of DSPP Gene Mutations on Periodontal Tissues.

Global medical genetics
2021

High bone mass phenotype in a cohort of patients with Osteogenesis Imperfecta caused due to BMP1 and C-propeptide cleavage variants in COL1A1.

Bone reports
2021

Non-Syndromic Dentinogenesis Imperfecta Caused by Mild Mutations in COL1A2.

Journal of personalized medicine
2022

A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia.

Journal of clinical research in pediatric endocrinology
2021

Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield.

Prenatal diagnosis
2021

Dentinogenesis imperfecta type II: Diagnosis, functional and esthetic rehabilitation in mixed dentition.

Journal of oral and maxillofacial pathology : JOMFP
2021

DSPP dosage affects tooth development and dentin mineralization.

PloS one
2021

Nanoscopic wear behavior of dentinogenesis imperfecta type II tooth dentin.

Journal of the mechanical behavior of biomedical materials
2021

Dentinogenesis Imperfecta and Caries in Osteogenesis Imperfecta among Vietnamese Children.

Dentistry journal
2020

Observed Frequency and Characteristics of Hearing Loss in Osteogenesis Imperfecta.

Revista medica de Chile
2021

Novel mutations in BMP1 result in a patient with autosomal recessive osteogenesis imperfecta.

Molecular genetics &amp; genomic medicine
2021

Dentine disorders and adhesive treatments: A systematic review.

Journal of dentistry
2021

Loss of TANGO1 Leads to Absence of Bone Mineralization.

JBMR plus
2021

Management of molar-incisor hypomineralisation by general dental practitioners - part one: diagnosis.

British dental journal
2021

Osteogenesis imperfecta tooth level phenotype analysis: Cross-sectional study.

Bone
2021

Phenotypic features of dentinogenesis imperfecta associated with osteogenesis imperfecta and COL1A2 mutations.

Oral surgery, oral medicine, oral pathology and oral radiology
2021

Hypoxia-Responsive Oxygen Nanobubbles for Tissues-Targeted Delivery in Developing Tooth Germs.

Frontiers in cell and developmental biology
2021

Mother's sense of coherence and dental characteristics in children and adolescents with osteogenesis imperfecta: A paired study.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2021

Case Report: Rare Presentation of Dentin Abnormalities in Loeys-Dietz Syndrome Type I.

Frontiers in dental medicine
2020

A Baseline Measurement of Quality of Life in 322 Adults With Osteogenesis Imperfecta.

JBMR plus
2020

Cervical kyphosis: A predominant feature of patients with osteogenesis imperfecta type 5.

Bone reports
2020

Haploinsufficiency of Dspp Gene Causes Dentin Dysplasia Type II in Mice.

Frontiers in physiology
2020

Fragile and Brittle Bone Disease or Osteogenesis Imperfecta: A Case Report.

International journal of clinical pediatric dentistry
2021

Human dentin characteristics of patients with osteogenesis imperfecta: insights into collagen-based biomaterials.

Acta biomaterialia
2021

Reduced mesiodistal tooth dimension in individuals with osteogenesis imperfecta: a cross-sectional study.

Acta odontologica Scandinavica
2020

[Role of bone morphogenetic protein 1/tolloid proteinase family in the development of teeth and bone].

Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology
2021

Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta.

Journal of bone and mineral metabolism
2020

Full Mouth Rehabilitation of Two Siblings with Dentinogenesis Imperfecta Type II Using Different Treatment Modalities.

International journal of environmental research and public health
2021

Tooth ultrastructure of a novel COL1A2 mutation expanding its genotypic and phenotypic spectra.

Oral diseases
2020

A Digital Esthetic Rehabilitation of a Patient with Dentinogenesis Imperfecta Type II: A Clinical Report.

Journal of prosthodontics : official journal of the American College of Prosthodontists
2020

Case report: Rehabilitation of a child with dentinogenesis imperfecta with CAD/CAM approach: Three-year follow-up.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2020

Physicochemical properties of dentinogenesis imperfecta with a known DSPP mutation.

Archives of oral biology
2019

Management of Dentinogenesis Imperfecta: A Report of Two Cases.

International journal of clinical pediatric dentistry
2020

[Gene mutations and disorders of dental hard tissues].

Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology
2020

Monolithic CAD/CAM Complete Overdentures for a Pedodontic Patient with Dentinogenesis Imperfecta and Limited Prosthetic Space: A Clinical Report.

The International journal of prosthodontics
2020

Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency.

The Journal of dermatology
2020

Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2020

Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: A case report and review of the literature.

Gene
2020

Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review.

Acta dermato-venereologica
2020

Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion.

eLife
2020

A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2.

European journal of medical genetics
2020

Chapter 6: Vitamins and Oral Health.

Monographs in oral science
2020

Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A.

American journal of medical genetics. Part A
2020

Fatigue in adults with Osteogenesis Imperfecta.

BMC musculoskeletal disorders
2020

Noggin inhibition of mouse dentinogenesis.

Journal of oral biosciences
2020

X-ray microanalysis of dentine in primary teeth diagnosed Dentinogenesis Imperfecta type II.

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry
2019

Phenotypic Properties of Collagen in Dentinogenesis Imperfecta Associated with Osteogenesis Imperfecta.

International journal of nanomedicine
2019

A histological continuum between dentinogenesis imperfecta and dentin dysplasia: A case report with literature review.

Indian journal of dental research : official publication of Indian Society for Dental Research
2019

Genotype-Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease.

Frontiers in pharmacology
2019

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients.

Frontiers in genetics
2019

Dental alterations on panoramic radiographs of patients with osteogenesis imperfecta in relation to clinical diagnosis, severity, and bisphosphonate regimen aspects: a STROBE-compliant case-control study.

Oral surgery, oral medicine, oral pathology and oral radiology
2020

A novel hypothesis based on clinical, radiological, and histological data to explain the dentinogenesis imperfecta type II phenotype.

Connective tissue research
2019

The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1.

Molecular genetics &amp; genomic medicine
2019

A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly.

Genes &amp; diseases
2019

Mutant Dentin Sialophosphoprotein Causes Dentinogenesis Imperfecta.

Journal of dental research
2019

Cyclic pamidronate treatment for osteogenesis imperfecta: Report from a Brazilian reference center.

Genetics and molecular biology
2019

Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype-phenotype correlation.

BDJ open
2019

Conditional Knockout of Raptor/mTORC1 Results in Dentin Malformation.

Frontiers in physiology
2019

A multidisciplinary approach to the functional and esthetic rehabilitation of dentinogenesis imperfecta type II: A clinical report.

The Journal of prosthetic dentistry
2019

Dentinogenesis Imperfecta Type II in Children: A Scoping Review.

The Journal of clinical pediatric dentistry
2019

NOVEL MUTATIONS IN THE WNT1, TMEM38B, P4HB, AND PLS3 GENES IN FOUR UNRELATED CHINESE FAMILIES WITH OSTEOGENESIS IMPERFECTA.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
2019

Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients.

European journal of human genetics : EJHG
2019

Challenges of delivery of dental care and dental pathologies in children and young people with osteogenesis imperfecta.

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry
2019

Establishment of an Immortalized Mouse Bmp2 Knockout Dental Papilla Mesenchymal Cell Line.

Methods in molecular biology (Clifton, N.J.)
Ver todos os 337 no EuropePMC

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Beyond the diagnosis: Unraveling DSPP genotype-phenotype correlations in dentin dysplasia and dentinogenesis imperfecta.
    The Japanese dental science review· 2026· PMID 41583696mais citado
  2. Diagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants.
    Journal of medical genetics· 2026· PMID 41819808mais citado
  3. Multiscale effects of dentinogenesis imperfecta on elastic properties and mineralization: A pilot study on primary dentin with a COL1A2 variant.
    Dental materials : official publication of the Academy of Dental Materials· 2026· PMID 41763991mais citado
  4. A radiological case series of three siblings with osteogenesis imperfecta and shared paternal inheritance.
    Radiology case reports· 2026· PMID 41717638mais citado
  5. A rare 5'UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta: a roadmap for RNA therapeutic rescue.
    Scientific reports· 2026· PMID 41495099mais citado
  6. Management of Osteogenesis Imperfecta Complicated by Severe Pneumonia in a Resource-Limited Setting: A Case Report.
    Case Rep Pediatr· 2026· PMID 41953935recente
  7. Spatial Transcriptomics of Early Tooth Morphogenesis in Formalin-fixed Paraffin-embedded Mouse Embryonic Tissue.
    J Vis Exp· 2026· PMID 41911219recente
  8. Calcium phosphate polymer induced liquid precursor improves dentin bonding performance of primary teeth with dentinogenesis imperfecta type II.
    BMC Oral Health· 2026· PMID 41792681recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:49042(Orphanet)
  2. MONDO:0018849(MONDO)
  3. GARD:6258(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q548984(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Dentinogenesis imperfecta
Compêndio · Raras BR

Dentinogenesis imperfecta

ORPHA:49042 · MONDO:0018849
Prevalência
1-5 / 10 000
Herança
Autosomal dominant
CID-10
K00.5 · Anomalias hereditárias da estrutura dentária não classificadas em outra parte
CID-11
Início
Childhood
Prevalência
14.5 (Europe)
MedGen
UMLS
C0011436
EuropePMC
Wikidata
Wikipedia
Papers 10a
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