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Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)

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Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES.

Also Known As:

Congenital Disorders; Congenital Disorder; Disorder, Congenital; Disorders, Congenital; Neonatal Diseases and Abnormalities

Networked: 449 relevant articles (8 outcomes, 16 trials/studies) for this Disease, Comments

Relationship Network

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 449

Related Diseases

1.	Aplastic Anemia (Anemia, Hypoplastic)
2.	Hemophilia A (Haemophilia)
3.	Proteinuria
4.	Precursor Cell Lymphoblastic Leukemia-Lymphoma (Acute Lymphoblastic Leukemia)
5.	Hematologic Neoplasms (Hematological Malignancy)

Experts

1.	Freeze, Hudson H: 13 articles (04/2009 - 03/2002)
2.	Jaeken, J: 12 articles (08/2005 - 01/2000)
3.	Seta, Nathalie: 10 articles (06/2006 - 06/2002)
4.	Jaeken, Jaak: 9 articles (09/2008 - 11/2002)
5.	Matthijs, Gert: 9 articles (04/2007 - 03/2002)
6.	Dupré, Thierry: 9 articles (01/2007 - 06/2002)
7.	Briones, Paz: 8 articles (08/2009 - 05/2003)
8.	Körner, Christian: 8 articles (08/2008 - 03/2002)
9.	Matthijs, G: 8 articles (08/2005 - 01/2000)
10.	Seta, N: 7 articles (09/2009 - 12/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital, Hereditary, and Neonatal Diseases and Abnormalities:

1.	Factor VIII (Coagulation Factor VIII)IBA 07/01/2004 - "BACKGROUND: Hemophilia A is a congenital disorder caused by a deficiency of the blood-clotting factor VIII (FVIII) and is an attractive candidate for gene therapy. " 10/01/2005 - "Although hemophilia A, a congenital disorder caused by defective or deficient factor VIII:C (FVIII), is cured by liver transplantation, the exact site of hepatic FVIII production is unknown. " 09/01/2006 - "Hemophilia is a congenital disorder due to the deficiency of the activity of factor VIII (classical hemophilia A) or IX (Christmas disease or hemophilia B). " 01/01/1986 - "A 4-year-old Japanese girl had a congenital disorder that was characterized by recurrent thrombocytopenia, hemolytic anemia, hematuria, and proteinuria, which were repeatedly improved by the infusion of factor VIII concentrate. " Order ALL the reference details at left...
2.	EnzymesIBA 11/15/2009 - "Since the COG complex affects the localization of several Golgi glycosyltransferase enzymes, COG deficiency also leads to defective protein glycosylation, thereby explaining the classification of COG deficiencies as forms of congenital disorders of glycosylation (CDG). " 03/01/2009 - "BACKGROUND: Variable increases in the plasma activity of different lysosomal enzymes have been reported in patients with congenital disorders of glycosylation (CDG). " 01/01/2009 - "Congenital disorders of metabolism show a wide spectrum of symptoms as a consequence of impairment of a certain metabolic pathway by mutated enzymes resulting in abnormal accumulation of enzyme substrates, deficiency of expected products, and abnormal burden to collateral metabolic pathways, etc. However, in some occasions, depending on which pathway up to what degree of disturbance, it can be asymptomatic until a certain kind of burden is placed on to the patient. " 07/01/1992 - "Intrasplenic transplantation of hepatocytes relieved congenital disorders of liver enzymes in rats. " 08/01/2002 - "Congenital disorders of glycosylation (CDG) are a group of hereditary multisystem diseases due to different defects of enzymes or transport molecules involved in the synthesis of glycoproteins. " Order ALL the reference details at left...
3.	DNA (Deoxyribonucleic Acid)IBA 01/01/2004 - "Since Watson & Crick's 1953 description of the structure of DNA, significant progress has been achieved in the control of congenital disorders, most of which has benefited industrialized countries. " 01/01/2007 - "Using DNA samples from patients with known congenital disorders, our X-tiling array was proven to discriminate one-copy losses and gains together with their physical sizes, and also to estimate the percentage of a mosaicism in a patient with mos 45,X[13]/46,X,r(X)[7]. " 04/01/2004 - "BACKGROUND: While the association between increased maternal age and congenital disorders has long been recognized, the offspring of older fathers are also at increased risk of congenital disorders related to DNA errors during spermatogenesis. " 01/01/1994 - "The emphasis has been on postnatal cytogenetic, biochemical, and DNA diagnosis of congenital disorders, carrier detection, genetic counseling, and prenatal diagnosis. " 01/01/1986 - "It seems likely that the primary biochemical defect in the erythroblasts was some congenital disorder of DNA or nucleoprotein synthesis." Order ALL the reference details at left...
4.	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 11/01/1981 - "Congenital disorders of vitamin B12 transport and their contributions to concepts. " 10/01/1973 - "Editorial: Congenital disorders of vitamin B12 transport and their contribution to concepts." 09/01/1988 - "Since the dU suppression test is abnormal in transcobalamin II deficiency and in some congenital disorders of vitamin B12 and folate metabolism, it is very useful in the investigation of obscure anaemias in infancy and childhood. " Order ALL the reference details at left...
5.	Folic Acid (Vitamin M)FDA LinkGeneric 09/01/1995 - "Neurological symptoms present in most of these congenital disorders highlight the role of folate in the central nervous system." 09/01/1995 - "The possible relationship between congenital disorders such as neural tube defects or dihydropteridine reductase deficiency and disturbances of folate metabolism are discussed. " 09/01/1988 - "Since the dU suppression test is abnormal in transcobalamin II deficiency and in some congenital disorders of vitamin B12 and folate metabolism, it is very useful in the investigation of obscure anaemias in infancy and childhood. " Order ALL the reference details at left...
6.	Transcobalamins (Transcobalamin II)IBA 09/01/1988 - "Since the dU suppression test is abnormal in transcobalamin II deficiency and in some congenital disorders of vitamin B12 and folate metabolism, it is very useful in the investigation of obscure anaemias in infancy and childhood. " Order ALL the reference details at left...
7.	Dexamethasone (Maxidex)FDA LinkGeneric 01/01/1994 - "These longitudinal reference data determined by modern radioimmunoassay methodology are helpful for the prenatal diagnosis of congenital disorders with insufficient or absent fetoplacental function, and in the control of suppression of the fetal pituitary-adrenal axis during dexamethasone treatment in pregnancies with a female fetus affected with congenital adrenal hyperplasia." Order ALL the reference details at left...
8.	Spermatocidal AgentsIBA 06/05/1987 - "Vaginal spermicides and congenital disorders: study reassessed, not retracted." 12/12/1986 - "Vaginal spermicides and congenital disorders: the validity of a study." 10/16/1987 - "The relation between vaginal spermicides and congenital disorders." 12/11/1981 - "Vaginal spermicides and congenital disorders." 04/03/1981 - "Vaginal spermicides and congenital disorders." Order ALL the reference details at left...
9.	Glycoproteins (Glycoprotein)IBA 11/01/2007 - "Congenital disorders of glycosylation are a recently recognized group of inherited, multisystem disorders caused by aberrant biosynthesis of glycoproteins. " 05/01/2007 - "Congenital Disorders of Glycosylation (CDG) are a group of recessive genetic disorders characterized by hypoglycosylation of glycoproteins. " 01/01/2007 - "Congenital disorders of glycosylation (CDG) is a newly recognized group of diseases derived from defects in the biosynthetic pathway of protein glycosylation and the patients are never decisively diagnosed unless the glycoprotein molecules are analyzed. " 01/01/2007 - "We analyzed serums from patients with congenital disorders of glycosylation (CDG) in which glycoproteins are strongly impacted and exhibit highly distinguishable spot patterns compared to healthy controls. " 08/01/2006 - "Congenital disorders of glycosylation are a genetically and clinically heterogeneous group of multisystem disorders characterized by the abnormal glycosylation of a number of glycoproteins. " Order ALL the reference details at left...
10.	Proteins (Proteins, Gene)IBA 02/06/2009 - "Congenital disorder of glycosylation Ia: new differentially expressed proteins identified by 2-DE." 10/01/2006 - "COG mutations interfere with normal transport, distribution, and/or stability of Golgi proteins associated with glycoconjugate synthesis and trafficking, and lead to failure of spermatogenesis in Drosophila melanogaster, misdirected migration of gonadal distal tip cells in Caenorhabditis elegans, and type II congenital disorders of glycosylation in humans. " 05/01/2004 - "The congenital disorders of glycosylation (CDG) are characterized by defects in N-linked glycan biosynthesis that result from mutations in genes encoding proteins directly involved in the glycosylation pathway. " 03/14/2003 - "The underlying causes of type I congenital disorders of glycosylation (CDG I) have been shown to be mutations in genes encoding proteins involved in the biosynthesis of the dolichyl-linked oligosaccharide (Glc(3)Man(9)GlcNAc(2)-PP-dolichyl) that is required for protein glycosylation. " 07/01/2001 - "Congenital disorders involving defective N-glycosylation of proteins." Order ALL the reference details at left...

Therapies and Procedures

1.	Transplantation (Transplant Recipients) 09/15/2006 - "This serial transplantation technique allows the primary recipient of HLA-mismatched donor cells to act as a functionally "HLA-matched" donor for subsequent affected siblings, and should be considered as a therapeutic option in families with congenital disorders." 09/01/2000 - "In utero transplantation is a new technology that may provide non-toxic treatment for congenital disorders. " 02/01/1996 - "A rapidly accelerating number of transplantations of hematopoietic stem cells from human umbilical cord blood have been performed for malignancies and for congenital disorders. " 07/01/1984 - "Marrow transplantation for congenital disorders." 01/01/1992 - "Congenital disorders with chronic organ insufficiency frequently lead to growth retardation and cardiovascular complications already before transplantation and determine the long term outcome especially in renal transplantation." Order ALL the reference details at left...
2.	Transplants (Transplant) 01/01/1999 - "These and future correlated clinical and laboratory assay results may be useful for the development of in utero transplants for a variety of congenital disorders." 01/01/2003 - "BACKGROUND: The highly orchestrated process of blood cell development and homeostasis is termed "hematopoiesis." Understanding the biology of hematopoietic stem cells as well as hematopoiesis is important to developing improved treatments for hematologic malignancies, congenital disorders, chemotherapy-related cytopenias, and blood and marrow transplants. " 11/01/2002 - "Leukemias, lymphoproliferative disorders, aplastic anemia and congenital disorders of the bone marrow are main indications for allogeneic, lymphoproliferative disorders, leukemias, solid tumors and severe autoimmune disorders main indications for autologous transplants. " 03/01/1997 - "Main indications were leukemias with 4408 transplants (36%), 2977 allogeneic (68%) and 1431 autologous (32%); lymphomas with 4671 transplants (39%), 272 allogeneic (6%) and 4399 autologous (94%); severe aplastic anemia with 237 transplants (2%), 237 allogeneic (100%) and 0 autologous (0%); solid tumors with 2399 transplants (20%), 17 allogeneic (1%) and 2382 autologous (99%); and congenital disorders with 294 transplants (2%), 294 allogeneic (100%) and 0 autologous (0%) and others with 92 transplants (1%), 61 allogeneic (66%) and 31 autologous (34%). " 02/01/1996 - "Main indications in 1994 were leukemias with 3881 transplants (39%), 2635 allogeneic (75%) and 1246 autologous (19%) transplants; lymphomas with 3760 transplants (37%), 245 allogeneic (7%) and 3515 autologous (54%) transplants; severe aplastic anemia with 250 transplants (2%), 248 allogeneic (7%) and 2 autologous transplants; solid tumors with 1800 transplants (18%), 13 allogeneic and 1787 autologous (27%) transplants and congenital disorders with 375 (4%) transplants, 361 allogeneic (11%) and 14 autologous transplants. " Order ALL the reference details at left...
3.	Liver Transplantation 08/01/2007 - "There were 4 late deaths after portoenterostomy: 2 from associated congenital disorders and 2 after liver transplantation. " 10/01/2005 - "Although hemophilia A, a congenital disorder caused by defective or deficient factor VIII:C (FVIII), is cured by liver transplantation, the exact site of hepatic FVIII production is unknown. " Order ALL the reference details at left...
4.	Drug Therapy (Chemotherapy) 01/01/2003 - "BACKGROUND: The highly orchestrated process of blood cell development and homeostasis is termed "hematopoiesis." Understanding the biology of hematopoietic stem cells as well as hematopoiesis is important to developing improved treatments for hematologic malignancies, congenital disorders, chemotherapy-related cytopenias, and blood and marrow transplants. " 07/01/2005 - "TTP-HUS is well recognized as a complication of organ transplantation, drug therapy, in pregnancy, and as a chronic, relapsing congenital disorder. " Order ALL the reference details at left...
5.	Sutures (Suture) 03/01/2002 - "Furthermore, we carried out microsurgical dissections of the muscles of facial expression, the osseous and cartilaginous parts of the nose, and the midfacial sutures in two adult heads without congenital disorders and one newborn head with a primary unilateral complete cleft of the lip and alveolus. " 07/01/2000 - "This study aimed to evaluate the disturbances in normal coronal suture development resulting in craniosynostosis, a congenital disorder in which the calvarial sutures close prematurely. " Order ALL the reference details at left...

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