Medicine:X-linked sideroblastic anemia and spinocerebellar ataxia
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| X-linked sideroblastic anemia and spinocerebellar ataxia | |
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| Specialty | Medical genetics |
| Symptoms | Sideroblastic anemia and spinocerebellar ataxia inherited in an X-linked recessive manner |
| Complications | Walking |
| Prevention | none |
| Frequency | very rare, 4 families have been described in medical literature |
| Deaths | - |
X-linked sideroblastic anemia and spinocerebellar ataxia is a very rare genetic disorder which is characterized by mild sideroblastic anemia, and spinocerebellar ataxia that either doesn't progress or does so very slowly.[1][2] Additional findings include dysarthria, tremors and eye movement anomalies.[3] It is caused by X-linked recessive mutations in the ABCB7 gene in chromosome X.[4] Only 4 families with the disorder have been described in medical literature.[5][6][7][8]
References
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: X linked sideroblastic anemia and spinocerebellar ataxia" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2802.
- ↑ "Anemia sideroblastic and spinocerebellar ataxia - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/668/anemia-sideroblastic-and-spinocerebellar-ataxia.
- ↑ "X-linked sideroblastic anemia and ataxia: MedlinePlus Genetics" (in en). https://medlineplus.gov/genetics/condition/x-linked-sideroblastic-anemia-and-ataxia/.
- ↑ Allikmets, Rando; Raskind, Wendy H.; Hutchinson, Amy; Schueck, Nichole D.; Dean, Michael; Koeller, David M. (1999-05-01). "Mutation of a Putative Mitochondrial Iron Transporter Gene (ABC7) in X-Linked Sideroblastic Anemia and Ataxia (XLSA/A)". Human Molecular Genetics 8 (5): 743–749. doi:10.1093/hmg/8.5.743. ISSN 0964-6906. PMID 10196363.
- ↑ "OMIM Entry - # 301310 - ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT" (in en-us). https://omim.org/entry/301310.
- ↑ Pagon, R. A.; Bird, T. D.; Detter, J. C.; Pierce, I. (1985-08-01). "Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder". Journal of Medical Genetics 22 (4): 267–273. doi:10.1136/jmg.22.4.267. ISSN 0022-2593. PMID 4045952.
- ↑ Allikmets, R.; Raskind, W. H.; Hutchinson, A.; Schueck, N. D.; Dean, M.; Koeller, D. M. (1999-05-01). "Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)". Human Molecular Genetics 8 (5): 743–749. doi:10.1093/hmg/8.5.743. ISSN 0964-6906. PMID 10196363.
- ↑ Bekri, S.; Kispal, G.; Lange, H.; Fitzsimons, E.; Tolmie, J.; Lill, R.; Bishop, D. F. (2000-11-01). "Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation". Blood 96 (9): 3256–3264. doi:10.1182/blood.V96.9.3256. ISSN 0006-4971. PMID 11050011. https://pubmed.ncbi.nlm.nih.gov/11050011/.
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