Diastrophic dysplasia

An autosomal recessive type of dwarfism characterized by SCOLIOSIS, a form of clubbed foot bilaterally, malformed pinnae with calcification of the cartilage, premature calcification of the costal cartilages, and CLEFT PALATE in some cases. Mutations in the SLC26A2 gene have been identified. OMIM: 222600

Also Known As:

Networked: 105 relevant articles (3 outcomes, 7 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Atelosteogenesis type 2
2.	Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)
3.	Achondrogenesis type 1B
4.	Pendred syndrome
5.	Achondrogenesis

Experts

1.	Rossi, Antonio: 11 articles (01/2021 - 07/2003)
2.	Superti-Furga, Andrea: 8 articles (01/2021 - 10/2003)
3.	Forlino, Antonella: 7 articles (01/2021 - 03/2005)
4.	Monti, Luca: 5 articles (01/2021 - 05/2013)
5.	De Leonardis, Fabio: 5 articles (10/2015 - 07/2010)
6.	Gualeni, Benedetta: 5 articles (05/2013 - 03/2005)
7.	Cetta, Giuseppe: 4 articles (07/2010 - 07/2003)
8.	Karniski, Lawrence P: 4 articles (06/2010 - 10/2004)
9.	Nishimura, Gen: 4 articles (04/2010 - 06/2006)
10.	Paganini, Chiara: 3 articles (01/2021 - 10/2015)

Drugs and Biologics

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

1.	Sulfate TransportersIBA 11/01/2014 - "Mutations of the diastrophic dysplasia sulfate transporter (also known as solute carrier family 26 member 2) were encountered. " 01/01/2014 - "Mutations in diastrophic dysplasia sulfate transporter gene (DTDST) result in recessive MED. To investigate the possible gene mutation in a recessive MED patient. " 12/01/2010 - "Mutations in diastrophic dysplasia sulfate transporter (DTDST) cause a spectrum of autosomal recessive chondrodysplasias. " 04/01/2010 - "Molecular testing of the diastrophic dysplasia sulfate transporter (DTDST) gene was performed on six patients and no mutations were detected. " 01/01/2009 - "Mutations in the diastrophic dysplasia sulphate transporter (dtdst) gene causes different forms of chondrodysplasia in the human. "
2.	Acetylcysteine (Siran)FDA LinkGeneric 10/01/2015 - "N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia." 01/01/2021 - "Improvement of the skeletal phenotype in a mouse model of diastrophic dysplasia after postnatal treatment with N-acetylcysteine." 12/01/2017 - "Potential off-label therapeutic role of N-acetylcysteine (N-Ac) was recently demonstrated in the treatment of diastrophic dysplasia (DTD) using mutant mice; its main drawback is the rapid clearance from blood due to the liver metabolism. " 12/01/2017 - "Polyethylene Glycol-Poly-Lactide-co-Glycolide Block Copolymer-Based Nanoparticles as a Potential Tool for Off-Label Use of N-Acetylcysteine in the Treatment of Diastrophic Dysplasia."
3.	Fibronectins (Fibronectin)IBA 10/15/2014 - "Using mesenchymal stem cells (MSCs) in an in vitro chondrogenesis assay, we found that knockdown of the diastrophic dysplasia (DTD) sulfate transporter (DTDST, also known as SLC26A2), which is required for normal cartilage development, blocked cell condensation and caused a significant reduction in fibronectin matrix. " 12/03/2007 - "Requirements for sulfate transport and the diastrophic dysplasia sulfate transporter in fibronectin matrix assembly."
4.	Sulfates (Sulfates, Inorganic)IBA 05/01/2013 - "Diastrophic dysplasia (DTD) is a chondrodysplasia caused by mutations in the SLC26A2 gene, leading to reduced intracellular sulfate pool in chondrocytes, osteoblasts and fibroblasts. " 06/22/2012 - "Diastrophic dysplasia (DTD) is an incurable recessive chondrodysplasia caused by mutations in the SLC26A2 transporter responsible for sulfate uptake by chondrocytes. " 01/01/2021 - "Diastrophic dysplasia (DTD) is a recessive chondrodysplasia caused by mutations in the SLC26A2 gene encoding for a sulfate/chloride transporter. " 07/01/2001 - "Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype." 03/01/2016 - "Mutations in these genes cause a plethora of diseases such as diastrophic dysplasia affecting sulfate uptake into chondrocytes (SLC26A2), congenital chloride-losing diarrhoea (SLC26A3) affecting chloride secretion in the intestine and Pendred's syndrome (SLC26A4) resulting in hearing loss. "
5.	Collagen Type II (Type II Collagen)IBA 05/01/1989 - "COL2A1 was chosen as the candidate gene based on previous morphological and chemical studies which suggested abnormal structure of type II collagen in diastrophic dysplasia. " 05/01/1989 - "Three of the patients with diastrophic dysplasia were not homozygous for the intragenic RFLP markers, which suggests that the disease is not linked to the type II collagen gene. " 05/01/1989 - "The involvement of the cartilage specific type II collagen gene (COL2A1) was studied in nine patients with diastrophic dysplasia in the Finnish population, where the prevalence of this chondrodystrophy clearly exceeds that reported for other populations. " 01/01/1989 - "The abnormal SLS pattern seen in these cases of diastrophic dysplasia appears to be the result of overlapping crystallites and may not be the result of an intrinsic abnormality of type II collagen. " 01/01/1989 - "We have examined SLS of type II collagen from two patients with diastrophic dysplasia and found the SLS patterns to be identical with that of control type II SLS in almost all micrographs. "
6.	SulfurIBA 09/15/2006 - "In vitro studies have pointed out the potential relevance of sulfur-containing amino acids as sources for sulfation when extracellular sulfate concentration is low or when its transport is impaired such as in DTDST [DTD (diastrophic dysplasia) sulfate transporter] chondrodysplasias. "
7.	Sodium Fluoride (Ossin)FDA Link 11/01/2003 - "This study investigates the function of the diastrophic dysplasia sulfate transporter (DTDST) in otosclerotic bone and the effect on it of sodium fluoride (NaF). " 11/01/2003 - "Increased activity of the diastrophic dysplasia sulfate transporter in otosclerosis and its inhibition by sodium fluoride."
8.	Amino AcidsFDA Link 09/15/2006 - "In vitro studies have pointed out the potential relevance of sulfur-containing amino acids as sources for sulfation when extracellular sulfate concentration is low or when its transport is impaired such as in DTDST [DTD (diastrophic dysplasia) sulfate transporter] chondrodysplasias. "
9.	Proteoglycans (Proteoglycan)IBA 12/01/2010 - "DTDST mutations cause a spectrum of diastrophic dysplasia disorders characterized by defects of proteoglycans sulfation. " 08/01/2011 - "In addition, sulfonation of proteoglycans is important for maintaining normal structure and development of tissues, as shown for reduced sulfonation of cartilage proteoglycans that leads to developmental dwarfism disorders and four different osteochondrodysplasias (diastrophic dysplasia, atelosteogenesis type II, achondrogenesis type IB and multiple epiphyseal dysplasia). " 07/01/2010 - "Mutations in the sulfate transporter gene, SCL26A2, lead to cartilage proteoglycan undersulfation resulting in chondrodysplasia in humans; the phenotype is mirrored in the diastrophic dysplasia (dtd) mouse. " 01/01/2008 - "Diastrophic dysplasia sulfate transporter (DTDST) is required for synthesis of sulfated proteoglycans in cartilage, and its loss-of-function mutations result in recessively inherited chondrodysplasias. " 06/01/2006 - "Diastrophic dysplasia sulfate transporter (DTDST) is a sulfate transporter required for the synthesis of sulfated proteoglycans in the cartilage. "
10.	ChloridesIBA 01/01/1999 - "A vivid example of this has unfolded in the past few years with the identification of the genes causing diastrophic dysplasia, congenital chloride diarrhoea and Pendred syndrome. " 01/01/2021 - "Diastrophic dysplasia (DTD) is a recessive chondrodysplasia caused by mutations in the SLC26A2 gene encoding for a sulfate/chloride transporter. " 03/01/2016 - "Mutations in these genes cause a plethora of diseases such as diastrophic dysplasia affecting sulfate uptake into chondrocytes (SLC26A2), congenital chloride-losing diarrhoea (SLC26A3) affecting chloride secretion in the intestine and Pendred's syndrome (SLC26A4) resulting in hearing loss. " 08/01/2007 - "In the human, their physiological relevance was highlighted with the discovery of pathogenic mutations in several Slc26 transporters that lead to distinctive clinical disorders (Pendred syndrome, deafness, diastrophic dysplasia, congenital chloride diarrhoea) that are related to the specific distribution of these genes. " 01/01/2006 - "Three rare recessive diseases in humans, namely diastrophic dysplasia (cartilage disorder resulting in growth retardation), congenital chloride diarrhoea (anion exchange disorder of the intestine) and Pendred syndrome (deafness with thyroid disorder) turned out to be caused by the highly related genes SLC26A2 (first called DTDST), SLC26A3 (first called CLD or DRA) and SLC26A4 (first called PDS), respectively. "

Therapies and Procedures

1.	Knee Replacement Arthroplasty (Total Knee Replacement) 11/01/2003 - "Total knee arthroplasty substantially improved the function of patients with diastrophic dysplasia. " 11/01/2003 - "The purpose of our study was to evaluate the clinical and radiographic results of total knee arthroplasty in a series of patients with diastrophic dysplasia. " 10/01/2010 - "Total knee arthroplasty in a patient with diastrophic dwarfism." 11/01/2003 - "Total knee arthroplasty in patients with diastrophic dysplasia."
2.	Hip Replacement Arthroplasty (Total Hip Replacement) 03/01/2003 - "The purpose of our study was to evaluate prospectively the midterm results of total hip arthroplasty in a consecutive series of patients with diastrophic dysplasia. " 03/01/2003 - "Total hip arthroplasty is recommended for patients with diastrophic dysplasia and severe degeneration of the hip joints, even for those who are relatively young. " 03/01/2003 - "Implant survival was good and the Harris hip scores increased significantly after total hip arthroplasty in patients with diastrophic dysplasia. " 03/01/2003 - "Between 1982 and 1996, forty-one total hip replacements were performed in twenty-four consecutive patients with diastrophic dysplasia (mean age, forty-one years) at our hospital. " 03/01/2003 - "Total hip arthroplasty in diastrophic dysplasia."
3.	Traction 01/01/2021 - "To trial the use of three-dimensional (3D) printed skull models to guide safe pin placement in two patients with diastrophic dysplasia (DTD) requiring prolonged pre-fusion halo-gravity traction (HGT). "
4.	Therapeutics 03/01/2013 - "Overall, the pieces of information in the present study are of high importance when designing and reorganizing rehabilitation and in supportive therapy and treatment of patients with diastrophic dysplasia."
5.	Arthroplasty 01/01/1992 - "Cementless hip arthroplasty in diastrophic dysplasia." 11/01/2003 - "Between February 1992 and March 2000, twenty-one primary total knee arthroplasties were performed on fourteen consecutive patients with severe osteoarthritis due to diastrophic dysplasia. "