Schimke immunoosseous dysplasia

A hereditary autosomal recessive disorder characterized by growth and skeletal abnormalities, hyperpigmented skin areas, kidney disease, and immune deficiency; arteriosclerosis may also occur in some cases. Mutations in the SMARCAL1 gene have been identified. OMIM: 242900

Also Known As:

Networked: 45 relevant articles (3 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Renal Insufficiency (Renal Failure)
2.	Nephrotic Syndrome (Syndrome, Nephrotic)
3.	Chronic Kidney Failure (Chronic Renal Failure)
4.	Rare Diseases (Rare Disease)
5.	Hypophosphatasia

Experts

1.	Boerkoel, Cornelius F: 13 articles (11/2016 - 02/2002)
2.	Lücke, Thomas: 8 articles (09/2012 - 06/2004)
3.	Baradaran-Heravi, Alireza: 6 articles (01/2015 - 06/2009)
4.	Choi, Kunho: 4 articles (11/2016 - 06/2008)
5.	Morimoto, Marie: 4 articles (11/2016 - 06/2012)
6.	Ehrich, Jochen H H: 4 articles (06/2009 - 06/2004)
7.	Lewis, David B: 3 articles (01/2022 - 06/2012)
8.	Yusufzai, Timur: 3 articles (01/2017 - 10/2008)
9.	Asakura, Yumi: 3 articles (11/2016 - 09/2012)
10.	Bokenkamp, Arend: 3 articles (11/2016 - 06/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Schimke immunoosseous dysplasia:

1.	blinatumomabIBA 01/01/2021 - "The first, a 6-year-old girl with Schimke immuno-osseous dysplasia (SIOD) and combined immunodeficiency disorder (CID) obtained a minimum residual disease-negative (MRD-) remission of high hyperdiploid BCP-ALL with blinatumomab. "
2.	Proteins (Proteins, Gene)FDA Link 10/01/2015 - "Mutations and deletions in SMARCAL1, an SWI2/SNF2 protein, cause Schimke immuno-osseous dysplasia (SIOD). " 02/15/2006 - "Mutations in SMARCAL1 cause the autosomal-recessive multisystem disorder Schimke immuno-osseous dysplasia (SIOD); this suggests that the SMARCAL1 protein is involved in the development or maintenance of multiple organs. " 06/01/2004 - "Schimke-immuno-osseous dysplasia (SIOD) is a multisystem disorder caused by a mutation of the chromatin remodeling protein. " 02/01/2002 - "Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia." 01/01/2017 - "We investigate the mechanistic nature of the Snf2 family protein HARP, mutations of which are responsible for Schimke immuno-osseous dysplasia. "
3.	Adenosine Triphosphatases (ATPase)IBA 10/31/2008 - "Mutations in the HepA-related protein (HARP) ATPase are responsible for Schimke immuno-osseous dysplasia (SIOD), but the function of the protein is unknown. " 01/01/2018 - "Mutations in this gene cause a rare autosomal recessive disorder known as Schimke Immuno-Osseous Dysplasia (SIOD).Structural studies have shown that the ATP-dependent chromatin remodeling proteins possess two RecA-like domains termed as RecA-like domain 1 and RecA-like domain 2. Using Active DNA-dependent ATPase A domain (ADAAD), the bovine homolog of SMARCAL1, as a model system we had previously shown that the RecA-like domain 1 containing helicase motifs Q, I, Ia, II, and III are sufficient for ligand binding; however, the Rec A-like domain 2 containing motifs IV, V, and VI are needed for ATP hydrolysis. "
4.	LigandsIBA 01/01/2018 - "Mutations in this gene cause a rare autosomal recessive disorder known as Schimke Immuno-Osseous Dysplasia (SIOD).Structural studies have shown that the ATP-dependent chromatin remodeling proteins possess two RecA-like domains termed as RecA-like domain 1 and RecA-like domain 2. Using Active DNA-dependent ATPase A domain (ADAAD), the bovine homolog of SMARCAL1, as a model system we had previously shown that the RecA-like domain 1 containing helicase motifs Q, I, Ia, II, and III are sufficient for ligand binding; however, the Rec A-like domain 2 containing motifs IV, V, and VI are needed for ATP hydrolysis. "
5.	Adenosine Triphosphate (ATP)IBA 01/01/2018 - "Mutations in this gene cause a rare autosomal recessive disorder known as Schimke Immuno-Osseous Dysplasia (SIOD).Structural studies have shown that the ATP-dependent chromatin remodeling proteins possess two RecA-like domains termed as RecA-like domain 1 and RecA-like domain 2. Using Active DNA-dependent ATPase A domain (ADAAD), the bovine homolog of SMARCAL1, as a model system we had previously shown that the RecA-like domain 1 containing helicase motifs Q, I, Ia, II, and III are sufficient for ligand binding; however, the Rec A-like domain 2 containing motifs IV, V, and VI are needed for ATP hydrolysis. "
6.	ChromatinIBA 11/05/2016 - "Schimke immuno-osseous dysplasia (SIOD) is a multisystemic disorder caused by biallelic mutations in the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily A-like 1 (SMARCAL1) gene. " 11/01/2016 - "Chromatin changes in SMARCAL1 deficiency: A hypothesis for the gene expression alterations of Schimke immuno-osseous dysplasia." 09/01/2015 - "Schimke immuno-osseous dysplasia is an autosomal recessive multisystem disorder caused by defects in SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 gene (SMARCAL1). " 02/01/2007 - "Schimke immuno-osseous dysplasia (SIOD) is a fatal autosomal recessive disorder caused by loss-of-function mutations in swi/snf-related matrix-associated actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1). " 03/15/2006 - "Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive multisystemic disorder caused by mutations of the SMARCAL 1 gene (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1). "
7.	pleiotrophin (HARP)IBA 10/15/2009 - "Mutations in SMARCAL1 (HARP) cause Schimke immunoosseous dysplasia (SIOD). " 05/01/2014 - "In addition, mutations in HARP cause a rare disease known as Schimke immuno-osseous dysplasia. " 05/01/2010 - "For example, mutations in SMARCAL1 (also named HARP) cause Schimke immuno-osseous dysplasia (SIOD); a multi-system disorder characterized by growth defects, immune deficiencies, renal failure and other complex phenotypes. " 01/01/2017 - "We investigate the mechanistic nature of the Snf2 family protein HARP, mutations of which are responsible for Schimke immuno-osseous dysplasia. " 06/01/2011 - "Mutations in HepA-related protein (HARP, or SMARCAL1) cause Schimke immunoosseous dysplasia (SIOD). "
8.	A-Form DNA (A-DNA)IBA 07/01/2012 - "Described for the first time in 1971, Schimke immuno-osseous dysplasia (SIOD) is an autosomal-recessive multisystem disorder that is caused by bi-allelic mutations of SMARCAL1, which encodes a DNA annealing helicase. " 11/01/2016 - "Mutations in SMARCAL1, which encodes a DNA annealing helicase with roles in DNA replication fork restart, DNA repair, and gene expression modulation, cause Schimke immuno-osseous dysplasia (SIOD), an autosomal recessive disease characterized by skeletal dysplasia, renal disease, T-cell immunodeficiency, and arteriosclerosis. " 05/27/2014 - "SMARCAL1, a DNA remodeling protein fundamental to genome integrity during replication, is the only gene associated with the developmental disorder Schimke immuno-osseous dysplasia (SIOD). "
9.	Thrombopoietin ReceptorsIBA 12/01/2016 - "Eltrombopag (thrombopoietin-receptor agonist) and plasmapheresis as rescue therapy of acute post-renal transplant immune thrombocytopenia in a child with Schimke immuno-osseous dysplasia-case report."
10.	Angiotensin II Type 1 Receptor BlockersIBA 03/03/2014 - "This report provided the clinical and genetic description of a mild phenotype of Schimke immuno-osseous dysplasia associated with nephrotic proteinuria, decreasing after combined therapy with ACE inhibitors and sartans. "

Therapies and Procedures

1.	Kidney Transplantation 06/01/2009 - "Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke-immuno-osseous dysplasia." 01/01/2023 - "The present results indicate that low-dose immunosuppressive therapy after renal transplantation with low immunological risk should be considered for patients with Schimke immuno-osseous dysplasia." 01/01/2022 - "Sequential Stem Cell-Kidney Transplantation in Schimke Immuno-osseous Dysplasia." 01/01/2022 - "Sequential Stem Cell-Kidney Transplantation in Schimke Immuno-osseous Dysplasia. " 01/01/2022 - "Sequential Stem Cell-Kidney Transplantation in Schimke Immuno-osseous Dysplasia."
2.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 12/01/2000 - "We describe markedly improved marrow function 2 years after bone marrow transplantation in a boy with Schimke immunoosseous dysplasia." 10/01/2013 - "Bone marrow transplantation in Schimke immuno-osseous dysplasia." 12/01/2000 - "Successful bone marrow transplantation in a patient with Schimke immuno-osseous dysplasia."
3.	Transplantation 10/03/2023 - "Optimal transplantation options for children with Schimke immuno-osseous dysplasia." 01/01/2022 - "We developed an approach that attempts to abrogate immune rejection and the need for post-transplantation immunosuppression in three patients with Schimke immuno-osseous dysplasia who had both T-cell immunodeficiency and renal failure. " 01/01/2022 - "Schimke immuno-osseous dysplasia (SIOD) caused by mutations in SMARCAL1 is an ultra-rare disease characterized by specific facial features, skeletal dysplasia, and steroid-resistant nephrotic syndrome, which often leads to kidney failure and requires transplantation. "
4.	Therapeutics 03/03/2014 - "This report provided the clinical and genetic description of a mild phenotype of Schimke immuno-osseous dysplasia associated with nephrotic proteinuria, decreasing after combined therapy with ACE inhibitors and sartans. " 12/01/2016 - "Eltrombopag (thrombopoietin-receptor agonist) and plasmapheresis as rescue therapy of acute post-renal transplant immune thrombocytopenia in a child with Schimke immuno-osseous dysplasia-case report."
5.	Transcatheter Aortic Valve Replacement 07/01/2018 - "Successful transcarotid transcatheter aortic valve replacement in a 34-kg patient with Schimke immuno-osseous dysplasia and severe biscuspid aortic stenosis."