O alelo de tipo selvagem MALT1 humano está localizado nas proximidades de 18q21 e tem aproximadamente 79 kb de comprimento. Este alelo, que codifica a proteína do gene 1 da translocação do linfoma do tecido linfóide associado à mucosa, desempenha um papel na modulação da cascata de sinalização do complexo B do fator nuclear kappa. O gene está envolvido em uma translocação cromossômica t(11;18)(q21;q21) com o gene BIRC2 em linfomas de tecido linfóide associados à mucosa.
Introdução
O que você precisa saber de cara
O alelo de tipo selvagem MALT1 humano está localizado nas proximidades de 18q21 e tem aproximadamente 79 kb de comprimento. Este alelo, que codifica a proteína do gene 1 da translocação do linfoma do tecido linfóide associado à mucosa, desempenha um papel na modulação da cascata de sinalização do complexo B do fator nuclear kappa. O gene está envolvido em uma translocação cromossômica t(11;18)(q21;q21) com o gene BIRC2 em linfomas de tecido linfóide associados à mucosa.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
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Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 46 características clínicas mais associadas, ordenadas por frequência.
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Internal medicine (Tokyo, Japan)Stomal Hyperflow and Intestinal Failure: A Case Report on the Use of a Chyme Reinstillation Device.
CureusBelzutifan for HIF2A-Related Pheochromocytoma and Paraganglioma: A Retrospective Study of Real-World Data.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsIdiopathic hypereosinophilic syndrome in a female Sprague Dawley rat.
Laboratory animalsReversible Cardio-Renal-Cerebral Syndrome in a Dog: A Case Report.
Journal of veterinary internal medicineDKA with negative DM-autoantibodies, complicated by GBS and RESLES: a case report and literature review.
Frontiers in immunologyHistopathological patterns in meralgia paraesthetica: insights from lateral femoral cutaneous nerve neurectomies.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaComparison of SZ-HRX and LEHR collimators for reduced-duration 123I-ioflupane brain SPECT/CT: a phantom study.
EJNMMI physicsIRIS without PML in MS patients - a case report of IRIS after past alemtuzumab therapy with subsequent oral cladribine treatment and review of the literature.
Annals of agricultural and environmental medicine : AAEMEosinophilic Fasciitis in a 78-Year-Old Man Following Pembrolizumab Treatment for Bladder Cancer.
The American journal of case reportsDisseminated Mycobacterium kansasii disease complicating Talaromyces marneffei infection in patient with anti-IFN-γ autoantibodies: a case report.
BMC infectious diseasesCholesterol Embolization Syndrome Presenting with Multifocal Cerebral Infarction After Thoracic Endovascular Aortic Repair: A Case Report.
Journal of clinical medicineClinical, Bone Mineral Density and Spinal Remodelling Responses to Zoledronate Treatment in Chronic Recurrent Multifocal Osteomyelitis.
Diagnostics (Basel, Switzerland)Pituitary Abscess Syndrome in Ruminants: Nine Cases.
Animals : an open access journal from MDPIContinuous spinal anesthesia in a case of Eisenmenger syndrome undergoing TURBT- A case report.
Saudi journal of anaesthesiaSuccessful treatment of HIV-related progressive multifocal leukoencephalopathy and immunological reconstitution inflammatory syndrome with intravenous human immunoglobulin: a case report.
AIDS research and therapyEpilepsy due to a MED25 Homozygous Pathogenic Founder Variant.
Journal of child neurologyClinicopathological and molecular characterization of seven rare cases of renal cell carcinoma with hemangioblastoma-like features: Expanding the morphological spectrum of renal tumours with tuberous sclerosis complex/mammalian target of rapamycin mutations.
HistopathologyFumarate hydratase-deficient renal cell carcinoma: high intratumoral and peritumoral CD4-positive T cell infiltration density and high PD-L1 expression.
World journal of urologyLance-Adams syndrome or chronic post-hypoxic myoclonus in adults: a systematic literature review.
Brain communicationsDistinguishing Progressive Multifocal Leukoencephalopathy From Cerebral Toxoplasmosis in HIV: A Case Report.
CureusProgressive multifocal leukoencephalopathy as a rare first manifestation of AIDS: case report.
Postepy psychiatrii neurologiiA thyroid storm causing strokes and unmasking moyamoya.
Radiology case reportsLate-Onset Combined Immunodeficiency presenting with Progressive Multifocal Leukoencephalopathy and associated Immune Reconstitution Inflammatory Syndrome.
Le infezioni in medicinaAcute necrotizing encephalopathy in a young adult triggered by adenovirus: a rare etiology of a devastating neurological syndrome.
International journal of emergency medicineThe changing landscape of primary autoimmune neuropathies.
Nature reviews. NeurologyDramatic multifocal osteosarcoma treatment response in the setting of POT1 tumor predisposition syndrome.
Cancer geneticsExtensive venolymphatic involvement in infantile Klippel-Trenaunay syndrome: A rare case from Ethiopia.
Radiology case reportsDICER1-Related Pediatric Thyroid Neoplasm with Follicular and Morular Growth: A Tumor that Did Not Read the Textbook.
Endocrine pathologySevere Combined Immunodeficiency in the Newborn Period.
NeoReviewsImatinib For Treatment of Multifocal Maxillofacial Giant Cell Lesions: A Case Series.
Journal of pediatric hematology/oncologyPathogenicity difference analysis of novel duck reovirus NY01 between in semi-muscovy duck and shelduck.
Poultry scienceAcute Pancreatitis-Associated Thrombotic Venopathy.
CureusRelentless Placoid Chorioretinitis: A Differential Diagnosis and Management Approach in a Challenging Case.
CureusAcute Posterior Multifocal Placoid Pigment Epitheliopathy: Clinical and Iconographical Aspects of Two Cases.
CureusSynchronous giant bilateral renal tumors as initial presentation of Von Hippel-Lindau disease: Sequential surgical management and transition to renal replacement therapy.
Urology case reportsAn interpretable machine learning approach for predicting drug-resistant epilepsy in children with tuberous sclerosis complex.
Frontiers in neurologyAssociações
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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.
- Progressive multifocal leucoencephalopathy as a rare complication of anti-synthetase syndrome associated with immunosuppressive therapy.
- Epilepsy in pediatric patients with PTEN hamartoma tumor syndrome: First step in recommendations for clinical management.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society· 2026· PMID 41825102mais citado
- Fulminant Amyloid β-Related Angiitis With Herniation and Rapid Response to Tocilizumab: A Case Report.
- Rapidly progressive varicella zoster virus vasculopathy in a chemotherapy- and steroid-immunosuppressed patient with refractory diffuse large B-cell lymphoma: diagnostic and therapeutic challenges.
- Reversible cerebral vasoconstriction syndrome in psychiatric settings: Context-dependent diagnostic bias and consultation-liaison psychiatry practice.
- Postpartum reversible cerebral vasoconstriction syndrome: a rare but severe cause of postpartum headache.
- MEPPC Syndrome: A Systematic Review and State-of-the-Art Paper.
- Klebsiella pneumoniae Invasive Syndrome without Liver Abscess: A Case Report.
- Noninfectious Uveitis Syndromes.
- A Case of Postpartum Reversible Cerebral Vasoconstriction Syndrome with Extracranial Artery Involvement.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:464321(Orphanet)
- MONDO:0018735(MONDO)
- GARD:10467(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q16940237(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
