Moyamoya Disease 2

Last update 01 Nov 2024

Basic Info

Synonyms

MOYAMOYA DISEASE 2, MYMY2, Moyamoya Disease 2

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Introduction

An autosomally inherited subtype of moyamoya disease often presenting in childhood caused by mutation(s) in the RNF213 gene, encoding E3 ubiquitin-protein ligase RNF213.

100 Clinical Results associated with Moyamoya Disease 2

100 Translational Medicine associated with Moyamoya Disease 2

0 Patents (Medical) associated with Moyamoya Disease 2

Literatures (Medical) associated with Moyamoya Disease 2

01 Jan 1989·Archives of Neurology

Magnetic Resonance Imaging in Moyamoya Disease

Letter

Author: Rolak, L. A.

To the Editor. —I wish to congratulate Bruno and colleagues 1 on their excellent study of magnetic resonance imaging (MRI) in young adults with cerebral infarction due to moyamoya disease. I would like to add to their discussion by interjecting a note of caution about the nonspecificity of MRI in this condition. We reported the first use of MRI in moyamoya disease 2 in a patient initially thought to have multiple sclerosis (MS). Our patient, like most of those in the article by Bruno et al, was a young woman with fluctuating neurologic findings in whom the MRI showed multifocal bilateral areas of increased signal intensity ranging in size from 2 mm to 3 cm, with an appearance identical to that of MS plaques. Unlike their patients, her lesions were not concentrated in watershed areas, nor was the middle cerebral artery signal-void flow sign absent. Our patient also had abnormal brain-stem

GenesQ3 · BIOLOGY

Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted TSC1/TSC2 Sequencing

Q3 · BIOLOGY

ArticleOA

Author: Melegh, Bela ; Hadzsiev, Kinga ; Kovesdi, Erzsebet ; Fabos, Beata ; Horvath, Emese Beatrix ; Bauer, Peter ; Moreno, Pilar Guatibonza ; Ripszam, Reka ; Farkas, Viktor ; Magyari, Lili ; Postyeni, Etelka ; Sumegi, Katalin ; Kelemen, Anna

Background: Approximately fifteen percent of patients with tuberous sclerosis complex (TSC) phenotype do not have any genetic disease-causing mutations which could be responsible for the development of TSC. The lack of a proper diagnosis significantly affects the quality of life for these patients and their families. Methods: The aim of our study was to use Whole Exome Sequencing (WES) in order to identify the genes responsible for the phenotype of nine patients with clinical signs of TSC, but without confirmed tuberous sclerosis complex 1/ tuberous sclerosis complex 2 (TSC1/TSC2) mutations using routine molecular genetic diagnostic tools. Results: We found previously overlooked heterozygous nonsense mutations in TSC1, and a heterozygous intronic variant in TSC2. In one patient, two heterozygous missense variants were found in polycystic kidney and hepatic disease 1 (PKHD1), confirming polycystic kidney disease type 4. A heterozygous missense mutation in solute carrier family 12 member 5 (SLC12A5) was found in one patient, which is linked to cause susceptibility to idiopathic generalized epilepsy type 14. Heterozygous nonsense variant ring finger protein 213 (RNF213) was identified in one patient, which is associated with susceptibility to Moyamoya disease type 2. In the remaining three patients WES could not reveal any variants clinically relevant to the described phenotypes. Conclusion: Patients without appropriate diagnosis due to the lack of sensitivity of the currently used routine diagnostic methods can significantly profit from the wider application of next generation sequencing technologies in order to identify genes and variants responsible for their symptoms.

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Moyamoya Disease 2

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