neurofibromatosis type

neurofibromatosis type 2

An autosomal dominant inherited disease with a gene locus at 22q12 characterized by bilateral acoustic neuromas, meningioma, glioma and Schwannoma. Ocular manifestations are juvenile cataract and hamartoma (benign tumour-like nodules) of the retina and retinal pigment epithelium. It is much less common than neurofibromatosis type 1 (von Recklinghausen's disease). See congenital hypertrophy of the retinal pigment epithelium.
References in periodicals archive ?
Scientists made a protein-modification discovery while studying neurofibromatosis type 2.
The European Commission has granted orphan drug designation to SpringWorks Therapeutics, a clinical-stage biopharmaceutical company, for its mirdametinib intended to treat neurofibromatosis type 1 (NF1), it was reported yesterday.
Biopharmaceutical company SpringWorks Therapeutics Inc reported on Tuesday the receipt of European Commission orphan drug designation for mirdametinib (formerly PD-0325901) for the treatment of neurofibromatosis type 1 (NF1).
These cataracts also may be due to certain conditions, such as myotonic dystrophy, galactosemia, neurofibromatosis type 2 or rubella.
The mum-of-three has neurofibromatosis type 1 (NF1), a genetic disorder which leaves her with large bubble-like lesions all over her face, neck, arms, back, tummy and legs.
Tlws Friday 22 In 2015, after years of tests and investigation Koren was finally diagnosed as suffering from Neurofibromatosis type 1.
There are 4 thematic groups of syndromes: 1: Neurofibromatosis type 1, 2 & Schwannomatosis.
After preliminary and detailed investigations, Dr Hillol diagnosed her with neurofibromatosis type 1 (NF1).
Connor has a genetic neurological condition called neurofibromatosis type 1 (NF Type 1).
Summary: TEHRAN (FNA)- A new study suggests that a slow-growing brain tumor arising in patients affected by neurofibromatosis type 1 (NF1) may be vulnerable to immunotherapy, which gives the immune system a boost in fighting cancer.
To the Editor: Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant inherited disorders with a prevalence of approximately 1 in 3000 individuals.[1] Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract.
VS can occur unilaterally or when associated with neurofibromatosis type 2 (NF2), bilaterally.