A new aberration in the VPS33B gene - a description of the familial occurrence of ARCS1 syndrome
ARCS1 -arthrogryposis is an autosomal recessive multisystem disorder. The disease affects the liver, kidneys, skin, central nervous system, musculoskeletal system. It is the result of mutations in the genes VPS33B (Vacuolar protein sorting 33 homolog B) on chromosome 15q26.1 - 75% of cases) and VIPA...
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| Format: | Article |
| Language: | English |
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Scientific Publisher of the Mazovian Academy in Płock
2025-01-01
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| Series: | Pielęgniarstwo w Opiece Długoterminowej |
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| Online Access: | https://www.termedia.pl/A-new-aberration-in-the-VPS33B-gene-a-description-of-the-familial-occurrence-of-ARCS1-syndrome,150,55573,1,1.html |
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| author | Olga Adamczyk-Gruszka Mariola Głowacka Jakub Gruszka Maciej Kłosowski Anna Zwierzyńska |
| author_facet | Olga Adamczyk-Gruszka Mariola Głowacka Jakub Gruszka Maciej Kłosowski Anna Zwierzyńska |
| author_sort | Olga Adamczyk-Gruszka |
| collection | DOAJ |
| description | ARCS1 -arthrogryposis is an autosomal recessive multisystem disorder. The disease affects the liver, kidneys, skin, central nervous system, musculoskeletal system. It is the result of mutations in the genes VPS33B (Vacuolar protein sorting 33 homolog B) on chromosome 15q26.1 - 75% of cases) and VIPAR (VPS33B interacting protein, apical-basolateral polarity regulator - 25% of cases). Prevalence is not exactly known. About 100 cases have been described so far. The syndrome has no curative therapy and the prognosis is poor. Patients usually die before 7 months of age due to recurrent infections, severe dehydration, metabolic acidosis, or internal hemorrhage. |
| format | Article |
| id | doaj-art-d38b825c33664b9b992d8708e5a19079 |
| institution | DOAJ |
| issn | 2450-8624 2544-2538 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Scientific Publisher of the Mazovian Academy in Płock |
| record_format | Article |
| series | Pielęgniarstwo w Opiece Długoterminowej |
| spelling | doaj-art-d38b825c33664b9b992d8708e5a190792025-08-20T02:59:03ZengScientific Publisher of the Mazovian Academy in PłockPielęgniarstwo w Opiece Długoterminowej2450-86242544-25382025-01-0194142010.19251/pwod/2024.4(2)55573A new aberration in the VPS33B gene - a description of the familial occurrence of ARCS1 syndromeOlga Adamczyk-GruszkaMariola GłowackaJakub GruszkaMaciej KłosowskiAnna ZwierzyńskaARCS1 -arthrogryposis is an autosomal recessive multisystem disorder. The disease affects the liver, kidneys, skin, central nervous system, musculoskeletal system. It is the result of mutations in the genes VPS33B (Vacuolar protein sorting 33 homolog B) on chromosome 15q26.1 - 75% of cases) and VIPAR (VPS33B interacting protein, apical-basolateral polarity regulator - 25% of cases). Prevalence is not exactly known. About 100 cases have been described so far. The syndrome has no curative therapy and the prognosis is poor. Patients usually die before 7 months of age due to recurrent infections, severe dehydration, metabolic acidosis, or internal hemorrhage.https://www.termedia.pl/A-new-aberration-in-the-VPS33B-gene-a-description-of-the-familial-occurrence-of-ARCS1-syndrome,150,55573,1,1.htmlarcs1 arthrogryposis renal dysfunction syndrome cholestasis vps33b protein |
| spellingShingle | Olga Adamczyk-Gruszka Mariola Głowacka Jakub Gruszka Maciej Kłosowski Anna Zwierzyńska A new aberration in the VPS33B gene - a description of the familial occurrence of ARCS1 syndrome Pielęgniarstwo w Opiece Długoterminowej arcs1 arthrogryposis renal dysfunction syndrome cholestasis vps33b protein |
| title | A new aberration in the VPS33B gene - a description of the familial occurrence of ARCS1 syndrome |
| title_full | A new aberration in the VPS33B gene - a description of the familial occurrence of ARCS1 syndrome |
| title_fullStr | A new aberration in the VPS33B gene - a description of the familial occurrence of ARCS1 syndrome |
| title_full_unstemmed | A new aberration in the VPS33B gene - a description of the familial occurrence of ARCS1 syndrome |
| title_short | A new aberration in the VPS33B gene - a description of the familial occurrence of ARCS1 syndrome |
| title_sort | new aberration in the vps33b gene a description of the familial occurrence of arcs1 syndrome |
| topic | arcs1 arthrogryposis renal dysfunction syndrome cholestasis vps33b protein |
| url | https://www.termedia.pl/A-new-aberration-in-the-VPS33B-gene-a-description-of-the-familial-occurrence-of-ARCS1-syndrome,150,55573,1,1.html |
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