📂 Diseases
Warburg micro syndrome 3 — Definition
Warburg mikro sendromu tip 3 / Warburg micro syndrome 3
Warburg micro syndrome type 3 is a rare autozomal resessive transitional neurocommunication disorder. The disease is characterized by congenital microphemia (small eyes), cataract, microcephalus (small head) and severe mental disability. Also neurological findings such as hypotoni (low muscle tone), spastisite and seizures are often accompanied. Genetically RAB3GAP1 is caused by mutations in RAB3GAP2, RAB18 or TBC1D20 genes, and the type 3 is associated with RAB18 gene, especially.
Disease Definition
🔬 Disease Definition
Warburg micro syndrome 3, RAB3GAP2 genindeki mutasyonlardan kaynaklanan, otozomal resesif geçişli, nadir bir nörogelişimsel bozukluktur. Mikrosefali, konjenital katarakt, hipotoni ve ağır zihinsel engellilik ile karakterizedir.
🧬 Causes & Risk Factors
RAB3GAP2 genindeki homozigot veya bileşik heterozigot mutasyonlar, hücre içi vezikül trafiğini bozarak hastalığa yol açar. Ebeveynlerin taşıyıcı olması risk faktörüdür.
🩺 Symptoms & Signs
Konjenital bilateral katarakt, mikrosefali, ağır hipotoni, gelişimsel gecikme, epilepsi, spastisite, optik atrofi, mikrokornea ve ağır zihinsel engellilik görülür.
📋 Diagnostic Methods
Klinik bulgular ve aile öyküsü ile şüphelenilir. Tanı, RAB3GAP2 geninin moleküler genetik testi ile doğrulanır. Beyin MRG'sinde serebral atrofi ve korpus kallozum incelmesi saptanabilir.
💊 Treatment Options
Spesifik bir tedavisi yoktur. Semptomatik ve destekleyici tedavi uygulanır: katarakt cerrahisi, antiepileptik ilaçlar, fizik tedavi ve beslenme desteği.
⚠️ Complications
Ağır nörolojik hasar, tekrarlayan aspirasyon pnömonisi, beslenme güçlüğü, ilerleyici spastisite ve erken yaşta ölüm.
Frequently Asked Questions
❓ What is Warburg mikro sendromu tip 3?
Warburg mikro sendromu tip 3; warburg micro syndrome type 3 is a rare autozomal resessive transitional neurocommunication disorder. The disease is characterized by congenital microphemia (small eyes), cataract, microcephalus (small head) and severe mental disability. Also neurological findings such as hypotoni (low muscle tone), spastisite and seizures are often accompanied. Genetically RAB3GAP1 is caused by mutations in RAB3GAP2, RAB18 or TBC1D20 genes, and the type 3 is associated with RAB18 gene, especially.
❓ What is Warburg micro syndrome 3 in Turkish?
The Turkish equivalent of "Warburg micro syndrome 3" is Warburg mikro sendromu tip 3.
❓ Which medical field is Warburg mikro sendromu tip 3 related to?
This term belongs to the Diseases category.