sideroblastic spinocerebellar ataxia Anemia

Also Known As:

Anemia, sideroblastic spinocerebellar ataxia; Anemia, Sex-Linked Hypochromic Siderobla; Anemia, Sideroblastic, and Spinocerebellar Ataxia; Pagon Bird Detter syndrome; Sideroblastic anemia with spinocerebellar ataxia; X-Linked Sideroblastic Anemia and Ataxia; Xlsa-A

Networked: 16 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Hemic and Lymphatic Diseases: 6
- Hematologic Diseases: 3366
  - Anemia: 38331
    - Sideroblastic Anemia: 345
      - sideroblastic spinocerebellar ataxia Anemia: 16
  - Bone Marrow Diseases: 135
    - Myelodysplastic Syndromes: 8364
      - Sideroblastic Anemia: 345
        sideroblastic spinocerebellar ataxia Anemia: 16
Nervous System Diseases: 14178
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - Spinocerebellar Degenerations: 353
      - Spinocerebellar Ataxias: 2083
        sideroblastic spinocerebellar ataxia Anemia: 16
  - X-Linked Genetic Diseases: 42
    - sideroblastic spinocerebellar ataxia Anemia: 16

Related Diseases

1.	Ataxia (Dyssynergia)
2.	X-linked sideroblastic anemia
3.	Friedreich Ataxia (Friedreich's Ataxia)
4.	sideroblastic spinocerebellar ataxia Anemia
5.	Spinocerebellar Ataxias (Spinocerebellar Ataxia)

Experts

1.	Lill, Roland: 2 articles (12/2021 - 03/2014)
2.	Srinivasan, Vasundara: 2 articles (12/2021 - 03/2014)
3.	Ellinghaus, Thomas L: 1 article (12/2021)
4.	Kühlbrandt, Werner: 1 article (12/2021)
5.	Marcellino, Thomas: 1 article (12/2021)
6.	Bertino, Francesca: 1 article (05/2020)
7.	Chiabrando, Deborah: 1 article (05/2020)
8.	Tolosano, Emanuela: 1 article (05/2020)
9.	Pierik, Antonio J: 1 article (03/2014)
10.	Baylis, Howard A: 1 article (06/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to sideroblastic spinocerebellar ataxia Anemia:

1.	Proteins (Proteins, Gene)FDA Link 12/01/2001 - "This study supports the recently hypothesized involvement of the ABC7 gene in XLSA/A and highlights a protein structure region of importance to this syndrome." 11/01/2000 - "These data demonstrate that both the molecular defect in XLSA/A and the impaired maturation of a cytosolic Fe/S protein result from an ABC7 mutation in the reported family." 08/07/2006 - "Mutations in the adenosine triphosphate-binding cassette protein ABCB7, identified in XLSA with ataxia (XLSA-A), disrupt the maturation of cytosolic (Fe-S) clusters, leading to mitochondrial Fe accumulation. " 03/01/2005 - "For instance, the disease X-linked sideroblastic anemia with ataxia (XLSA/A) is due to a mutation in the ATP-binding cassette protein B7 (ABCB7) transporter that is thought to transfer [Fe-S] clusters from the mitochondrion to the cytoplasm. "
2.	IronIBA 12/24/2021 - "Mutations in the human relative ABCB7 cause the iron storage disease XLSA/A. " 03/01/2010 - "The prospects of drug-mediated iron relocation versus those of chelation are discussed in relation to other disorders involving iron misdistribution, such as ACD and XLSA/A." 06/15/2004 - "In humans, iron-storage diseases such as X-linked sideroblastic anemia and ataxia are caused by defects in Fe-S cluster availability. " 05/01/1999 - "Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)." 04/09/2008 - "XLSA/A is caused by partial inactivating mutations of the ABCB7 ATP-binding cassette transporter gene, which functions to enable transport of iron from the mitochondria to the cytoplasm. "
3.	ATP-Binding Cassette Transporters (ABC Transporters)IBA 06/17/2011 - "XLSA/A is caused by mutations in the ABCB7 gene, which encodes a member of the ATP-binding cassette transporter family. " 04/15/2007 - "X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare syndromic form of inherited sideroblastic anemia associated with spinocerebellar ataxia, and is due to mutations in the mitochondrial ATP-binding cassette transporter Abcb7. " 03/01/2001 - "Many ABC transporters are involved in human inherited or sporadic diseases such as cystic fibrosis, adrenoleukodystrophy, Stargardt's disease, drug-resistant tumors, Dubin-Johnson syndrome, Byler's disease, progressive familiar intrahepatic cholestasis, X-linked sideroblastic anemia and ataxia, persistent hyperinsulimenic hypoglycemia of infancy, and others. " 04/09/2008 - "XLSA/A is caused by partial inactivating mutations of the ABCB7 ATP-binding cassette transporter gene, which functions to enable transport of iron from the mitochondria to the cytoplasm. " 05/01/1999 - "A gene encoding an ATP-binding cassette (ABC) transporter was mapped to Xq13, a region previously shown by linkage analysis to harbor the XLSA/A gene. "
4.	Heme (Haem)IBA 05/26/2020 - "Starting with an overview of the biology of heme metabolism and Fe-S cluster biogenesis, the review discusses recent progress in the understanding of the molecular pathogenesis of PCARP, FRDA and XLSA/A, and highlights future line of research in the field. " 04/15/2007 - "Here, we show that Abcb7 is essential for hematopoiesis and formally demonstrate that XLSA/A is due to partial loss of function mutations in Abcb7 that directly or indirectly inhibit heme biosynthesis." 05/26/2020 - "Mutations in genes involved in heme metabolism and Fe-S cluster biogenesis cause different forms of ataxia, like posterior column ataxia and retinitis pigmentosa (PCARP), Friedreich's ataxia (FRDA) and X-linked sideroblastic anemia with ataxia (XLSA/A). " 04/15/2007 - "In addition, the results indicate that anemia in XLSA/A is caused by the accumulation of iron in a form that is not readily usable for heme synthesis."
5.	Adenosine Triphosphate (ATP)IBA 05/01/1999 - "A gene encoding an ATP-binding cassette (ABC) transporter was mapped to Xq13, a region previously shown by linkage analysis to harbor the XLSA/A gene. " 08/07/2006 - "Mutations in the adenosine triphosphate-binding cassette protein ABCB7, identified in XLSA with ataxia (XLSA-A), disrupt the maturation of cytosolic (Fe-S) clusters, leading to mitochondrial Fe accumulation. " 03/01/2005 - "For instance, the disease X-linked sideroblastic anemia with ataxia (XLSA/A) is due to a mutation in the ATP-binding cassette protein B7 (ABCB7) transporter that is thought to transfer [Fe-S] clusters from the mitochondrion to the cytoplasm. "
6.	Complementary DNA (cDNA)IBA 05/01/1999 - "The full-length ABC7 cDNA was cloned and the entire coding region screened for mutations in a kindred in which five male members manifested XLSA/A. "
7.	Phosphoglycerate Kinase (Kinase, Phosphoglycerate)IBA 02/01/1991 - "X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13."
8.	Glutathione (Reduced Glutathione)IBA 03/07/2014 - "The glutathione binding site includes a residue mutated in XLSA/A and is located close to the inner membrane surface in a large cavity. "
9.	FrataxinIBA 03/01/2010 - "Iron concentrations can rise to toxic levels in mitochondria of excitable cells, often leaving the cytosol iron-depleted, in some forms of neurodegeneration with brain accumulation (NBIA) or following mutations in genes associated with mitochondrial functions, such as ABCB7 in X-linked sideroblastic anemia with ataxia (XLSA/A) or the genes encoding frataxin in Friedreich's ataxia (FRDA). "
10.	protoporphyrin IXIBA 04/15/2007 - "X-linked sideroblastic anemia with ataxia (XLSA/A) is caused by defects of the transporter ABCB7 and is characterized by mitochondrial iron deposition and excess of protoporphyrin in erythroid cells. "