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Síndrome Bloom
ORPHA:125CID-10 · Q82.8CID-11 · 4A01.31OMIM 210900DOENÇA RARA

A síndrome de Bloom (BSyn) é uma síndrome rara de ruptura cromossômica caracterizada por uma acentuada instabilidade genética associada a retardo de crescimento pré e pós-natal, eritema telangiectásico facial sensível ao sol, aumento da suscetibilidade a infecções e predisposição ao câncer.

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Introdução

O que você precisa saber de cara

📋

A síndrome de Bloom (BSyn) é uma síndrome rara de ruptura cromossômica caracterizada por uma acentuada instabilidade genética associada a retardo de crescimento pré e pós-natal, eritema telangiectásico facial sensível ao sol, aumento da suscetibilidade a infecções e predisposição ao câncer.

Publicações científicas
755 artigos
Último publicado: 2026 Apr 14

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
300
pacientes catalogados
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q82.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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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

📏
Crescimento
10 sintomas
🫁
Pulmão
8 sintomas
🧬
Pele e cabelo
8 sintomas
😀
Face
7 sintomas
🦴
Ossos e articulações
5 sintomas
🫃
Digestivo
5 sintomas

+ 42 sintomas em outras categorias

Características mais comuns

100%prev.
HP:0003577
Frequência: 6/6
100%prev.
Início na infância
Obrigatório (100%)
100%prev.
Diabetes mellitus tipo 2
Obrigatório (100%)
100%prev.
Hemoglobina A1c elevada
Obrigatório (100%)
100%prev.
Eritema facial
Obrigatório (100%)
100%prev.
Hipopigmentação salpicada
Obrigatório (100%)
99sintomas
Muito frequente (17)
Frequente (21)
Ocasional (35)
Muito raro (5)
Sem dados (21)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 99 características clínicas mais associadas, ordenadas por frequência.

HP:0003577
Frequência: 6/6100%
Início na infânciaInfantile onset
Obrigatório (100%)100%
Diabetes mellitus tipo 2Type II diabetes mellitus
Obrigatório (100%)100%
Hemoglobina A1c elevadaElevated hemoglobin A1c
Obrigatório (100%)100%
Eritema facialFacial erythema
Obrigatório (100%)100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico755PubMed
Últimos 10 anos200publicações
Pico202140 papers
Linha do tempo
2026Hoje · 2026🧪 2006Primeiro ensaio clínico📈 2021Ano 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 recessive.

BLMRecQ-like DNA helicase BLMDisease-causing germline mutation(s) inTolerante
FUNÇÃO

ATP-dependent DNA helicase that unwinds double-stranded (ds)DNA in a 3'-5' direction (PubMed:24816114, PubMed:25901030, PubMed:9388193, PubMed:9765292). Participates in DNA replication and repair (PubMed:12019152, PubMed:21325134, PubMed:23509288, PubMed:34606619). Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA (PubMed:21325134). Stimulates DNA 4-way junction branch migration and DNA Holliday junc

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (10)
Regulation of TP53 Activity through PhosphorylationG2/M DNA damage checkpointProcessing of DNA double-strand break endsPresynaptic phase of homologous DNA pairing and strand exchangeHDR through Single Strand Annealing (SSA)
MECANISMO DE DOENÇA

Bloom syndrome

An autosomal recessive disorder. It is characterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability.

OUTRAS DOENÇAS (1)
Bloom syndrome
HGNC:1058UniProt:P54132

Variantes genéticas (ClinVar)

934 variantes patogênicas registradas no ClinVar.

🧬 BLM: NM_000057.4(BLM):c.3532dup (p.Gln1178fs) ()
🧬 BLM: NM_000057.4(BLM):c.711_721del (p.Cys237fs) ()
🧬 BLM: NM_000057.4(BLM):c.1076_1077del (p.Thr359fs) ()
🧬 BLM: NM_000057.4(BLM):c.1221-2A>G ()
🧬 BLM: NM_000057.4(BLM):c.520C>T (p.Gln174Ter) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 4,116 variantes classificadas pelo ClinVar.

1235
2058
823
Patogênica (30.0%)
VUS (50.0%)
Benigna (20.0%)
VARIANTES MAIS SIGNIFICATIVAS
BLM: NM_000057.4(BLM):c.3532dup (p.Gln1178fs) [Pathogenic]
BLM: NM_000057.4(BLM):c.711_721del (p.Cys237fs) [Pathogenic]
BLM: NM_000057.4(BLM):c.1076_1077del (p.Thr359fs) [Pathogenic]
BLM: NM_000057.4(BLM):c.1221-2A>G [Likely pathogenic]
BLM: NM_000057.4(BLM):c.520C>T (p.Gln174Ter) [Pathogenic]

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-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome Bloom

🗺️

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

1 ensaios clínicos encontrados.

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

Timeline de publicações
272 papers (10 anos)
#1

Unraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers.

Orphanet journal of rare diseases2026 Feb 06

Osteosarcoma is a highly malignant bone tumor, and a subset of cases is closely associated with hereditary syndromes. These syndrome-related osteosarcomas exhibit unique clinical features, molecular mechanisms, and therapeutic challenges. This review summarizes the current understanding of specific types of syndrome-related osteosarcomas, including those associated with Rothmund-Thomson syndrome, Li-Fraumeni syndrome, secondary osteosarcoma in retinoblastoma survivors, Werner syndrome, and Bloom syndrome. These syndromes are typically characterized by specific gene mutations or chromosomal instability, significantly increasing the risk of osteosarcoma development. However, the rarity and heterogeneity of syndrome-related osteosarcomas pose significant challenges for diagnosis and treatment, including difficulties in early detection, incomplete elucidation of molecular mechanisms, and limitations of conventional therapeutic approaches. This article aims to systematically review the clinical characteristics, molecular mechanisms, and therapeutic challenges of these syndromes, providing a comprehensive reference for clinicians and directions for future research.

#2

G-quadruplexes regulate chromatin accessibility and gene expression in Bloom Syndrome.

bioRxiv : the preprint server for biology2026 Mar 05

Bloom Syndrome (BS) is a recessive genetic disorder characterized by hyper-recombination and genome instability. It is caused by mutations in BLM, which encodes a conserved RecQ helicase that unwinds various aberrant DNA structures. One such structure is DNA G-quadruplexes (G4s), which have versatile regulatory potential in chromatin organization and gene expression. However, whether G4 profiles are altered in BS and how G4s contribute to disease-associated molecular changes remain unclear. Here, we profiled chromatin accessibility and gene expression using ATAC-seq and RNA-seq and mapped endogenous G4 by ChIP-seq in wild type (WT) and BS cell lines. We observed that in BS cell lines, differential G4 formation positively correlated with both differential chromatin accessibility and gene expression. To test the direct involvement of G4s in the molecular phenotypes in BS, we applied pyridostatin, a G4-stabilizing molecule, in WT cells and showed that G4 stabilization partially recapitulated BS-associated molecular phenotypes. Additionally, we found that regions with increased chromatin accessibility in BS individuals in a family were also enriched for G4-forming sequences. Together, our data substantiate a regulatory role for G4s in Bloom syndrome and support a molecular model in which unresolved G4s in BLM- /- cells enhance chromatin accessibility, thereby promoting gene expression. These findings reveal an expanded regulatory function of BLM mediated through G4 structures and previously underappreciated role of G4s in the molecular etiology of BS.

#3

Metastatic Pancreatic Adenocarcinoma with Germline BLM and Somatic ATM Mutations: A Case Report and Review of DNA Damage Response.

Annals of case reports2026

Pancreatic adenocarcinoma (PDAC) is an aggressive malignancy with a poor prognosis. While germline mutations in BRCA1/2 are well-established risk factors, mutations in the BLM gene (associated with Bloom Syndrome) are rare in this context. We present a 73-year-old female with a recent history of small cell lung cancer (SCLC) who presented with metastatic pancreatic adenocarcinoma. Genetic profiling revealed a pathogenic germline BLM mutation and a somatic ATM mutation. The patient was treated with an oxaliplatin-based regimen (mFOLFOX6), modified due to comorbidities, achieving disease stabilization. This case highlights the complexity of managing metachronous malignancies and the utility of comprehensive genomic profiling. The presence of pathogenic variants in DNA damage response (DDR) genes (BLM and ATM) suggests a defect in homologous recombination, providing a rationale for platinum-based therapy. We discuss the implications of BLM mutations on therapeutic selection, potential immune checkpoint interactions, and the role of synthetic lethality in management.

#4

Mitotic BLM functions are required to maintain genomic stability.

Nucleic acids research2026 Feb 24

The BLM helicase is a critical genome maintenance protein involved in diverse cellular processes including DNA replication, repair, transcription, and chromosome segregation. During mitosis, it cooperates with the PICH helicase and topoisomerases to resolve ultrafine DNA bridges (UFBs)-nonchromatinized DNA structures that link sister chromatids-through a mechanism that is not yet fully understood. Here, we tagged endogenous BLM and PICH with fluorescent proteins and BLM with an auxin-inducible degron to generate a cell model system that enables temporal tracking of UFB dynamics in the presence or absence of BLM. Time-resolved lattice light sheet microscopy established the dynamic localization patterns of BLM and PICH throughout the cell cycle. While BLM cycles between PML bodies and DNA repair foci in interphase, these structures disappear at the mitotic entry, and BLM then re-associates with chromatin during anaphase to UFBs as well as to CENP-B-positive mitotic foci. Acute BLM depletion during mitosis increased the fraction of unresolved UFBs, micronuclei containing acentric fragments, binucleation, and resulted in subtle genomic abnormalities detected by single-cell whole genome sequencing. These findings highlight a mitosis-specific role for BLM in UFB resolution and underscore its function in preserving genomic stability.

#5

Prognostic Significance of DNA Repair Gene mRNA Expression in Early-Stage Breast Cancer: Insights into Clinical Relevance.

Oncology research2026

The prognostic and therapeutic roles of biological markers in early-stage breast cancer (eBC) warrant further investigation. Non-Breast Cancer (BRCA) genes, along with moderate- and low-penetrance breast cancer risk variant genes, are crucial for maintaining genome stability, yet their prognostic significance in eBC remains unclear. This study aimed to evaluate the impact of non-BRCA genes on clinical outcomes in eBC patients. Significant correlations were observed between the messenger ribonucleic acid (mRNA) expression levels of the genes Ataxia-telangiectasia mutated (ATM), Bloom helicase gene (BLM), and WRN RecQ Like Helicase (WRN) and patient prognosis. High mRNA expression of ATM was associated with longer metastasis-free survival (MFS). Conversely, lower mRNA expression of BLM correlated with favorable outcomes, particularly in triple-negative tumors. Additionally, high levels of WRN mRNA expression were linked to significantly longer MFS compared to low expression levels. This study highlights the prognostic significance of ATM, BLM, and WRN in predicting survival outcomes in eBC patients. The prognostic significance of various biological and non-BRCA genetic in early-stage breast cancer (eBC) remains unclear and warrants further investigation. This study therefore aimed to evaluate the prognostic impact of these genes on clinical outcomes in breast cancer. Patients included in this study were subdivided into two groups based on low and high messenger ribonucleic acid (mRNA) expression levels. Statistical analysis, including Kaplan-Meier curves, univariable, and multivariable Cox regression analyses, was performed to assess metastasis-free survival (MFS) of mRNA expression of non-BRCA genes. Subgroup analyses were also conducted among four different molecular subtypes of eBC. Our analysis revealed significant correlations between mRNA-expression levels of Ataxia-telangiectasia mutated (ATM), Bloom helicase gene (BLM), and WRN RecQ Like Helicase (WRN) and patient prognosis. High mRNA expression of ATM correlated with longer MFS in the entire cohort (p = 0.022, Log Rank), and in luminal-B-like tumors (p = 0.036). Lower mRNA expression of BLM was associated with favorable outcomes (p = 0.011, Log Rank), particularly in triple-negative eBC (p = 0.030, Log Rank). Finally, high levels of WRN mRNA expression correlated with significantly longer MFS compared to low mRNA expression levels (p = 0.009, Log Rank). This study underscores the prognostic significance of moderate penetrance breast cancer risk variant genes, such as ATM, BLM, and WRN, for survival outcomes in eBC.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC337 artigos no totalmostrando 194

2026

G-quadruplexes regulate chromatin accessibility and gene expression in Bloom Syndrome.

bioRxiv : the preprint server for biology
2026

Metastatic Pancreatic Adenocarcinoma with Germline BLM and Somatic ATM Mutations: A Case Report and Review of DNA Damage Response.

Annals of case reports
2026

Mitotic BLM functions are required to maintain genomic stability.

Nucleic acids research
2026

Prognostic Significance of DNA Repair Gene mRNA Expression in Early-Stage Breast Cancer: Insights into Clinical Relevance.

Oncology research
2026

Unraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers.

Orphanet journal of rare diseases
2026

Inhibition of BLM helicase disrupts organelle function and oocyte maturation in goats.

Reproduction (Cambridge, England)
2026

Prenatal Diagnosis of Bloom Syndrome Associated With Biallelic BLM RecQ-Like Helicase Variants Presenting With Severe Fetal Growth Restriction.

Congenital anomalies
2026

BLM and FANCJ role in the response to G-quadruplex-dependent telomeric replicative stress.

Communications biology
2025

Withdrawal Note: KNO1-mediated autophagic degradation of the Bloom syndrome complex component RMI1 promotes homologous recombination.

The EMBO journal
2025

The Relationship Between Insulin Resistance and Cancer in Humans.

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme
2025

Cardiac transplant outcomes in a pediatric patient with novel homozygous variants in TOP3Α causing mitochondrial dysfunction.

Molecular genetics and metabolism
2025

Target-triggered G-quadruplex DNAzyme on electrospun nanofibrous films for multicolor visual detection of uracil-DNA glycosylase.

Analytica chimica acta
2025

DNA repair helicases: from mechanistic understanding to therapeutic implications.

NAR cancer
2025

Membrane-coated BLM gene silencing plasmids and doxorubicin nanoparticles targeted for synergistic inhibition of triple-negative breast cancer.

Biomedicine &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2025

Shared and non-overlapping functions of RECQL4 and BLM helicases in chemotherapeutics-induced glioma cell responses.

BMC cancer
2025

Telomeric SUMO level influences the choices of APB formation pathways and ALT efficiency.

The Journal of cell biology
2025

Centromere protection requires strict mitotic inactivation of the Bloom syndrome helicase complex.

Nature communications
2025

Palliative Chemotherapy is Well Tolerated in a Patient With Metastatic Colorectal Cancer Due to Bloom Syndrome With a Novel BLM Mutation.

Journal of pediatric hematology/oncology
2025

Distinct mechanisms underlying extrachromosomal telomere DNA generation in ALT cancers.

Nucleic acids research
2025

An overview of RecQ helicases and related diseases.

Aging
2025

Management of Paediatric Cancers Associated With Bloom Syndrome.

Human mutation
2025

Irinotecan alleviates chemoresistance to anthracyclines through the inhibition of AARS1-mediated BLM lactylation and homologous recombination repair.

Signal transduction and targeted therapy
2025

Successful Haploidentical Haematopoietic Stem Cell Transplant in a Rare Case of Bloom Syndrome Associated With Monosomy 7/MDS.

Pediatric blood &amp; cancer
2025

CTC1-STN1-TEN1 controls DNA break repair pathway choice via DNA end resection blockade.

Science (New York, N.Y.)
2025

Mechanistic insight into anaphase bridge signaling to the abscission checkpoint.

The EMBO journal
2025

Arsenic enhances cervical cancer cell radiosensitivity by suppressing the DNA damage repair pathway.

Translational cancer research
2025

Condensin II interacts with BLM helicase in S phase to maintain genome stability.

Communications biology
2025

A CPC-shelterin-BTR axis regulates mitotic telomere deprotection.

Nature communications
2025

Multiple functions of the ALT favorite helicase, BLM.

Cell &amp; bioscience
2025

Unilateral posterior subcapsular cataract and lenticonus in a girl with Bloom's syndrome - report of a rare case.

Ophthalmic genetics
2025

Biophysical investigation of the molecular interaction between minichromosome maintenance protein 6 and Bloom syndrome helicase.

The FEBS journal
2025

Phosphorylated BLM peptide acts as an agonist for DNA damage response.

Nucleic acids research
2025

BLM knockdown promotes cells autophagy via p53-AMPK-mTOR pathway in triple negative breast cancer cells.

Molecular biology reports
2025

The BLM-TOP3A-RMI1-RMI2 proximity map reveals that RAD54L2 suppresses sister chromatid exchanges.

EMBO reports
2025

Functions of the Bloom syndrome helicase N-terminal intrinsically disordered region.

Genetics
2025

Single-Molecule Visualization of BLM-DNA2-Mediated DNA End Resection Using DNA Curtains.

Methods in molecular biology (Clifton, N.J.)
2024

Ustilago maydis Trf2 ensures genome stability by antagonizing Blm-mediated telomere recombination: Fine-tuning DNA repair factor activity at telomeres through opposing regulations.

PLoS genetics
2025

Rare Causes and Differential Diagnosis in Patients With Silver-Russell Syndrome.

Clinical genetics
2026

THE BLOOM SYNDROME AND RETINOBLASTOMA PATIENT EXHIBITS TWO RB1 GENE MUTATIONS IN THE GERMLINE.

Retinal cases &amp; brief reports
2024

The cGAS-STING pathway is an in vivo modifier of genomic instability syndromes.

bioRxiv : the preprint server for biology
2024

Synergistic effects of bloom helicase (BLM) inhibitor AO/854 with cisplatin in prostate cancer.

Scientific reports
2024

Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders.

Clinical cancer research : an official journal of the American Association for Cancer Research
2024

Promotion of DNA end resection by BRCA1-BARD1 in homologous recombination.

Nature
2024

Mechanism of BRCA1-BARD1 function in DNA end resection and DNA protection.

Nature
2024

Hyper-recombination in ribosomal DNA is driven by long-range resection-independent RAD51 accumulation.

Nature communications
2024

Asymptomatic Bloom syndrome diagnosed by chance in a patient with breast cancer.

Familial cancer
2024

TRF2-RAP1 represses RAD51-dependent homology-directed telomere repair by promoting BLM-mediated D-loop unwinding and inhibiting BLM-DNA2-dependent 5'-end resection.

Nucleic acids research
2025

Increased frequency of clonal hematopoiesis of indeterminate potential in Bloom syndrome probands and carriers.

Haematologica
2024

ATM, BLM, and CDH1 gene co-mutations in a high-grade endometrial stromal sarcoma patient with multiple abdominal cavity metastases: a case report and literature review.

BMC geriatrics
2024

Rare case of myelodysplastic syndrome with excess blasts 2 developing after adjuvant chemoradiotherapy for triple-negative breast cancer in a patient with Bloom syndrome.

Strahlentherapie und Onkologie : Organ der Deutschen Rontgengesellschaft ... [et al]
2024

James German and the Quest to Understand Human RECQ Helicase Deficiencies.

Cells
2024

Characterization and regulation of cell cycle-independent noncanonical gene targeting.

Nature communications
2024

RecQ helicase expression in patients with telomeropathies.

Molecular biology reports
2024

YY1 is involved in homologous recombination inhibition at guanine quadruplex sites in human cells.

Nucleic acids research
2024

Suppressors of Blm-deficiency identify three novel proteins that facilitate DNA repair in Ustilago maydis.

DNA repair
2024

Bloom Syndrome Complicated by Low-Grade Lymphoma and Non-small Cell Lung Cancer: A Case Report.

Cureus
2024

Bloom syndrome DNA helicase mitigates mismatch repair-dependent apoptosis.

Biochemical and biophysical research communications
2024

Circ_0001671 regulates prostate cancer progression through miR-27b-3p/BLM axis.

Scientific reports
2024

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

American journal of human genetics
2024

BLM helicase unwinds lagging strand substrates to assemble the ALT telomere damage response.

Molecular cell
2024

A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant.

International journal of hematology
2024

Genetic testing for hereditary cancer syndromes in Tunisian patients: Impact on health system.

Translational oncology
2024

TFIP11 promotes replication fork reversal to preserve genome stability.

Nature communications
2024

BLM and BRCA1-BARD1 coordinate complementary mechanisms of joint DNA molecule resolution.

Molecular cell
2024

Design and synthesis of quinazolin-4-one derivatives as potential anticancer agents and investigation of their interaction with RecQ helicases.

Bioorganic chemistry
2024

Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk: Laboratory Experience and Considerations.

The Journal of molecular diagnostics : JMD
2024

BLM mutation is associated with increased tumor mutation burden and improved survival after immunotherapy across multiple cancers.

Cancer medicine
2024

Coexistence of Bloom Syndrome and Kostmann Disease and a Novel Mutation.

Journal of pediatric hematology/oncology
2023

RMI1 facilitates repair of ionizing radiation-induced DNA damage and maintenance of genomic stability.

Cell death discovery
2023

Bisbenzylisoquinoline alkaloid fangchinoline derivative HY-2 inhibits breast cancer cells by suppressing BLM DNA helicase.

Biomedicine &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2024

Ischemic Stroke with Positive Antiphospholipid Antibodies in Bloom Syndrome: A Case Report.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
2023

Congenital Telangiectatic Erythema: Scoping Review.

JMIR dermatology
2023

A CK2 and SUMO-dependent, PML NB-involved regulatory mechanism controlling BLM ubiquitination and G-quadruplex resolution.

Nature communications
2023

Hematopoietic cell transplantation for hematological malignancies in Bloom syndrome.

Pediatric blood &amp; cancer
2023

Bloom syndrome patients and mice display accelerated epigenetic aging.

Aging cell
2023

BLM helicase protein negatively regulates stress granule formation through unwinding RNA G-quadruplex structures.

Nucleic acids research
2023

PARP1 negatively regulates transcription of BLM through its interaction with HSP90AB1 in prostate cancer.

Journal of translational medicine
2023

BLM overexpression as a predictive biomarker for CHK1 inhibitor response in PARP inhibitor-resistant BRCA-mutant ovarian cancer.

Science translational medicine
2023

Understanding G-Quadruplex Biology and Stability Using Single-Molecule Techniques.

The journal of physical chemistry. B
2023

Biochemical properties of naturally occurring human bloom helicase variants.

PloS one
2023

Photoelectrochemical polarity-switching-mode and split-type biosensor based on SQ-COFs/BiOBr heterostructure for the detection of uracil-DNA glycosylase.

Talanta
2023

A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report.

Molecular medicine reports
2023

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.

EMBO molecular medicine
2023

Infections in DNA Repair Defects.

Pathogens (Basel, Switzerland)
2023

KNO1-mediated autophagic degradation of the Bloom syndrome complex component RMI1 promotes homologous recombination.

The EMBO journal
2023

RecQ dysfunction contributes to social and depressive-like behavior and affects aldolase activity in mice.

Neurobiology of disease
2023

Bloom syndrome: an oral potentially malignant disorders aiding in malignancy vigour.

International journal of surgery (London, England)
2023

Bloom syndrome in children: unusual case of early onset lung damage.

Clinical dysmorphology
2023

Protocol for a high titer of BaEV-Rless pseudotyped lentiviral vector: Focus on syncytium formation and detachment.

Journal of virological methods
2023

Intellectual disability and abnormal cortical neuron phenotypes in patients with Bloom syndrome.

Journal of human genetics
2023

Germline Pathogenic Variants in Squamous Cell Carcinoma of the Head and Neck.

Folia biologica
2023

BLM promotes malignancy in PCa by inducing KRAS expression and RhoA suppression via its interaction with HDGF and activation of MAPK/ERK pathway.

Journal of cell communication and signaling
2022

ML216-Induced BLM Helicase Inhibition Sensitizes PCa Cells to the DNA-Crosslinking Agent Cisplatin.

Molecules (Basel, Switzerland)
2023

The MRN complex and topoisomerase IIIa-RMI1/2 synchronize DNA resection motor proteins.

The Journal of biological chemistry
2022

Discovery of a Novel Bloom's Syndrome Protein (BLM) Inhibitor Suppressing Growth and Metastasis of Prostate Cancer.

International journal of molecular sciences
2023

N6‑methyladenosine‑induced long non‑coding RNA PVT1 regulates the miR‑27b‑3p/BLM axis to promote prostate cancer progression.

International journal of oncology
2023

Design, synthesis and evaluation of N3-substituted quinazolinone derivatives as potential Bloom's Syndrome protein (BLM) helicase inhibitor for sensitization treatment of colorectal cancer.

European journal of medicinal chemistry
2022

Involvement of a BH3-only apoptosis sensitizer gene Blm-s in hippocampus-mediated mood control.

Translational psychiatry
2022

Beta Human Papillomavirus 8 E6 Induces Micronucleus Formation and Promotes Chromothripsis.

Journal of virology
2022

Refractory gastroduodenal ulcers: A rare complication with Bloom syndrome.

Clinical case reports
2022

Simultaneous Mechanical and Fluorescence Detection of Helicase-Catalyzed DNA Unwinding.

Methods in molecular biology (Clifton, N.J.)
2022

Downregulation of BLM RecQ helicase inhibits proliferation, promotes the apoptosis and enhances the sensitivity of bladder cancer cells to cisplatin.

Molecular medicine reports
2022

Bloom Syndrome Helicase Compresses Single-Stranded DNA into Phase-Separated Condensates.

Angewandte Chemie (International ed. in English)
2022

BLM Sumoylation Is Required for Replication Stability and Normal Fork Velocity During DNA Replication.

Frontiers in molecular biosciences
2022

Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha-Related Diseases.

Neurology. Genetics
2023

A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome.

Familial cancer
2022

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Blood advances
2022

The convergence of head-on DNA unwinding forks induces helicase oligomerization and activity transition.

Proceedings of the National Academy of Sciences of the United States of America
2022

Identifying novel SMYD3 interactors on the trail of cancer hallmarks.

Computational and structural biotechnology journal
2022

Bloom helicase mediates formation of large single-stranded DNA loops during DNA end processing.

Nature communications
2022

Radiotherapy and radiosensitivity syndromes in DNA repair gene mutations.

Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti
2022

Bloom syndrome helicase contributes to germ line development and longevity in zebrafish.

Cell death &amp; disease
2022

Age of first cancer diagnosis and survival in Bloom syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
2022

High Expression of Bloom Syndrome Helicase is a Key Factor for Poor Prognosis and Advanced Malignancy in Patients with Pancreatic Cancer: A Retrospective Study.

Annals of surgical oncology
2022

Bloom syndrome for which second chromosomal analysis led to early diagnosis.

Pediatrics international : official journal of the Japan Pediatric Society
2022

Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.

Clinical genetics
2022

The CDK1-TOPBP1-PLK1 axis regulates the Bloom's syndrome helicase BLM to suppress crossover recombination in somatic cells.

Science advances
2022

The toposiomerase IIIalpha-RMI1-RMI2 complex orients human Bloom's syndrome helicase for efficient disruption of D-loops.

Nature communications
2022

Mechanism of Bloom syndrome complex assembly required for double Holliday junction dissolution and genome stability.

Proceedings of the National Academy of Sciences of the United States of America
2022

Duplex DNA and BLM regulate gate opening by the human TopoIIIα-RMI1-RMI2 complex.

Nature communications
2022

Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures.

Human molecular genetics
2022

New resources for the Drosophila 4th chromosome: FRT101F enabled mitotic clones and Bloom syndrome helicase enabled meiotic recombination.

G3 (Bethesda, Md.)
2022

Homology-directed repair involves multiple strand invasion cycles in fission yeast.

Molecular biology of the cell
2021

Exonic sequencing and MLH3 gene expression analysis of breast cancer patients.

Cellular and molecular biology (Noisy-le-Grand, France)
2021

Anti-recombination function of MutSα restricts telomere extension by ALT-associated homology-directed repair.

Cell reports
2021

RNF4 Regulates the BLM Helicase in Recovery From Replication Fork Collapse.

Frontiers in genetics
2022

Blm helicase facilitates rapid replication of repetitive DNA sequences in early Drosophila development.

Genetics
2021

BLM helicase inhibition synergizes with PARP inhibition to improve the radiosensitivity of olaparib resistant non-small cell lung cancer cells by inhibiting homologous recombination repair.

Cancer biology &amp; medicine
2021

Bloom Helicase Along with Recombinase Rad51 Repairs the Mitochondrial Genome of the Malaria Parasite.

mSphere
2022

The coincidence of two rare diseases with opposite metabolic phenotype: a child with congenital hyperinsulinism and Bloom syndrome.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2021

Replication protein A large subunit (RPA1a) limits chiasma formation during rice meiosis.

Plant physiology
2021

USP37 regulates DNA damage response through stabilizing and deubiquitinating BLM.

Nucleic acids research
2022

Two novel variants and follow-up findings in four children with Bloom syndrome from two families.

Clinical dysmorphology
2021

Human RecQL4 as a Novel Molecular Target for Cancer Therapy.

Cytogenetic and genome research
2021

Spectrum of hematological malignancies, clonal evolution and outcomes in 144 Mayo Clinic patients with germline predisposition syndromes.

American journal of hematology
2021

Type I Interferon Induction in Cutaneous DNA Damage Syndromes.

Frontiers in immunology
2021

A novel cell-cycle-regulated interaction of the Bloom syndrome helicase BLM with Mcm6 controls replication-linked processes.

Nucleic acids research
2022

The catalytic core of Leishmania donovani RECQ helicase unwinds a wide spectrum of DNA substrates and is stimulated by replication protein A.

The FEBS journal
2021

Considerations for radiotherapy in Bloom Syndrome: A case series.

European journal of medical genetics
2021

Distinct pathways of homologous recombination controlled by the SWS1-SWSAP1-SPIDR complex.

Nature communications
2021

EXO5-DNA structure and BLM interactions direct DNA resection critical for ATR-dependent replication restart.

Molecular cell
2021

Case Report: Diabetes in Chinese Bloom Syndrome.

Frontiers in endocrinology
2021

Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.

The Journal of clinical endocrinology and metabolism
2021

Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder mutation.

Cold Spring Harbor molecular case studies
2021

High BLM Expression Predicts Poor Clinical Outcome and Contributes to Malignant Progression in Human Cholangiocarcinoma.

Frontiers in oncology
2021

Functions of BLM Helicase in Cells: Is It Acting Like a Double-Edged Sword?

Frontiers in genetics
2021

Inherited skin disorders presenting with poikiloderma.

International journal of dermatology
2021

Bloom syndrome and the underlying causes of genetic instability.

Molecular genetics and metabolism
2021

Bloom helicase explicitly unwinds 3'-tailed G4DNA structure in prostate cancer cells.

International journal of biological macromolecules
2021

Human RecQ Helicases in DNA Double-Strand Break Repair.

Frontiers in cell and developmental biology
2021

Super-resolution mapping of cellular double-strand break resection complexes during homologous recombination.

Proceedings of the National Academy of Sciences of the United States of America
2021

Improved Genome Editing through Inhibition of FANCM and Members of the BTR Dissolvase Complex.

Molecular therapy : the journal of the American Society of Gene Therapy
2021

DNA repair gene polymorphisms and chromosomal aberrations in healthy, nonsmoking population.

DNA repair
2021

Uncovering an allosteric mode of action for a selective inhibitor of human Bloom syndrome protein.

eLife
2021

Predominant cellular mitochondrial dysfunction in the TOP3A gene-caused Bloom syndrome-like disorder.

Biochimica et biophysica acta. Molecular basis of disease
2021

Human RecQ helicases in transcription-associated stress management: bridging the gap between DNA and RNA metabolism.

Biological chemistry
2021

Analysis of m6A RNA Methylation-Related Genes in Liver Hepatocellular Carcinoma and Their Correlation with Survival.

International journal of molecular sciences
2021

The Bloom syndrome complex senses RPA-coated single-stranded DNA to restart stalled replication forks.

Nature communications
2021

Bloom syndrome DNA helicase deficiency is associated with oxidative stress and mitochondrial network changes.

Scientific reports
2021

Alternative lengthening of telomeres is a self-perpetuating process in ALT-associated PML bodies.

Molecular cell
2021

HERC2 inactivation abrogates nucleolar localization of RecQ helicases BLM and WRN.

Scientific reports
2021

A Structural Guide to the Bloom Syndrome Complex.

Structure (London, England : 1993)
2020

Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma.

Proceedings of the National Academy of Sciences of the United States of America
2020

Withdrawal: Selective cleavage of BLM, the Bloom syndrome protein, during apoptotic cell death.

The Journal of biological chemistry
2021

Multidisciplinary management of endocrinopathies and treatment-related toxicities in patients with Bloom syndrome and cancer.

Pediatric blood &amp; cancer
2022

Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome.

Familial cancer
2021

PAR-TERRA is the main contributor to telomeric repeat-containing RNA transcripts in normal and cancer mouse cells.

RNA (New York, N.Y.)
2020

Determinants of replication protein A subunit interactions revealed using a phosphomimetic peptide.

The Journal of biological chemistry
2020

Bloom's syndrome with growth hormone deficiency: a rare association.

BMJ case reports
2021

Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo-exon activation in the BLM gene.

Clinical genetics
2021

The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome.

Journal of endocrinological investigation
2020

Break-induced replication promotes fragile telomere formation.

Genes &amp; development
2020

Quantitative and real-time measurement of helicase-mediated intra-stranded G4 unfolding in bulk fluorescence stopped-flow assays.

Analytical and bioanalytical chemistry
2021

Interhomolog Homologous Recombination in Mouse Embryonic Stem Cells.

Methods in molecular biology (Clifton, N.J.)
2020

Pathophysiology of premature aging characteristics in Mendelian progeroid disorders.

European journal of medical genetics
2020

RECQ DNA Helicases and Osteosarcoma.

Advances in experimental medicine and biology
2020

The identification of six risk genes for ovarian cancer platinum response based on global network algorithm and verification analysis.

Journal of cellular and molecular medicine
2020

Molecular Biology of Osteosarcoma.

Cancers
2020

Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.

Scientific reports
2020

Mutations in conserved functional domains of human RecQ helicases are associated with diseases and cancer: A review.

Biophysical chemistry
2020

Design, Synthesis, and Evaluation of New Quinazolinone Derivatives that Inhibit Bloom Syndrome Protein (BLM) Helicase, Trigger DNA Damage at the Telomere Region, and Synergize with PARP Inhibitors.

Journal of medicinal chemistry
2020

Vpu modulates DNA repair to suppress innate sensing and hyper-integration of HIV-1.

Nature microbiology
2020

Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin.

Molecular syndromology
2020

[Challenges of screening germline predispositions in children].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2020

[Analysis of clinical features and genetic variants in an infant with Bloom syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2020

Recognition and Unfolding of c-MYC and Telomeric G-Quadruplex DNAs by the RecQ C-Terminal Domain of Human Bloom Syndrome Helicase.

ACS omega
2020

Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers.

Mayo Clinic proceedings
2020

Specificity of end resection pathways for double-strand break regions containing ribonucleotides and base lesions.

Nature communications
2020

Complete remission of refractory juvenile acute myeloid leukaemia with RUNX1-PRDM16 in Bloom syndrome after haematopoietic stem cell transplantation.

British journal of haematology
2022

Malar rash in a young child with neurodevelopmental delay: a quiz.

Archives of disease in childhood. Education and practice edition
2020

Recent advances in Wilms' tumor predisposition.

Human molecular genetics
2020

Human pluripotent stem cell-based models suggest preadipocyte senescence as a possible cause of metabolic complications of Werner and Bloom Syndromes.

Scientific reports
2020

A distinct role for recombination repair factors in an early cellular response to transcription-replication conflicts.

Nucleic acids research
2020

Identification of cancer stem cell-related biomarkers in lung adenocarcinoma by stemness index and weighted correlation network analysis.

Journal of cancer research and clinical oncology
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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. Unraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers.
    Orphanet journal of rare diseases· 2026· PMID 41652616mais citado
  2. G-quadruplexes regulate chromatin accessibility and gene expression in Bloom Syndrome.
    bioRxiv : the preprint server for biology· 2026· PMID 41867784mais citado
  3. Metastatic Pancreatic Adenocarcinoma with Germline BLM and Somatic ATM Mutations: A Case Report and Review of DNA Damage Response.
    Annals of case reports· 2026· PMID 41816225mais citado
  4. Mitotic BLM functions are required to maintain genomic stability.
    Nucleic acids research· 2026· PMID 41805126mais citado
  5. Prognostic Significance of DNA Repair Gene mRNA Expression in Early-Stage Breast Cancer: Insights into Clinical Relevance.
    Oncology research· 2026· PMID 41799499mais citado
  6. A dual role for cGAS in shaping cellular and organismal responses to genomic instability.
    Genes Dev· 2026· PMID 41980769recente
  7. Fangchinoline derivative LYY-34 suppresses TNBC by inhibiting BLM DNA helicase from unfolding of c-MYC promoter G-quadruplex DNA.
    Biochem Pharmacol· 2026· PMID 41941995recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:125(Orphanet)
  2. OMIM OMIM:210900(OMIM)
  3. MONDO:0008876(MONDO)
  4. GARD:915(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. Q1469646(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

Síndrome Bloom
Compêndio · Raras BR

Síndrome Bloom

ORPHA:125 · MONDO:0008876
Prevalência
<1 / 1 000 000
Casos
300 casos conhecidos
Herança
Autosomal recessive
CID-10
Q82.8 · Outras malformações congênitas especificadas da pele
CID-11
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0005859
EuropePMC
Wikidata
Wikipedia
Papers 10a
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