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

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:

Networked: 668 relevant articles (9 outcomes, 21 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Thrombocytopenia (Thrombopenia)
2.	Proteinuria
3.	Hematuria
4.	Hemophilia A (Haemophilia)
5.	Aplastic Anemia (Anemia, Hypoplastic)

Experts

1.	Freeze, Hudson H: 15 articles (08/2015 - 03/2002)
2.	Körner, Christian: 7 articles (01/2012 - 03/2002)
3.	Marquardt, Thorsten: 6 articles (12/2015 - 03/2004)
4.	Seta, Nathalie: 6 articles (08/2015 - 06/2002)
5.	Ng, Bobby G: 6 articles (08/2015 - 04/2013)
6.	Pérez, Belén: 5 articles (09/2015 - 02/2009)
7.	Pérez-Cerdá, Celia: 5 articles (09/2015 - 02/2009)
8.	Matthijs, Gert: 5 articles (04/2014 - 03/2002)
9.	Jaeken, J: 5 articles (12/2008 - 01/2000)
10.	Dupré, Thierry: 5 articles (05/2005 - 06/2002)

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 07/01/2014 - "Haemophilia A (HA) and B (HB) are X-linked congenital disorders caused by deficiencies of Factor VIII and FIX. " 07/01/2004 - "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. "
2.	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. " 01/01/2014 - "For this study we conducted a whole exome sequencing (WES) investigation using genomic DNA prepared from the affected brother and sister, alongside DNA prepared from their unaffected mother, and identified two mutations previously reported to cause a rare disorder known as Congenital Disorder of Glycosylation, type Ia (CDG1A) (OMIM #212065). " 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 - "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. "
3.	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 05/01/2013 - "Congenital disorders of cobalamin absorption and cellular metabolism are also increasingly recognized in companion animal breeds. " 10/01/2011 - "It is usually caused by inadequate intake, abnormal absorption, or congenital disorders of vitamin B12 metabolism, including transport disorders. " 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. "
4.	EnzymesIBA 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. " 01/01/1993 - "Emphasis is put on the following aspects: 1) relationship between peroxisomal size and enzyme concentration; 2) abnormal enlargement of peroxisomes in many congenital disorders with peroxisomal dysfunction; 3) normal localization of matrix enzymes in several patients with peroxisomal dysfunction, with the exception of catalase, which is mainly cytoplasmic; 4) ghost-like peroxisomes in the liver of several syndromes but not in nine cases labelled as Zellweger; 5) discrepancies between liver and cultured fibroblasts; 6) trilamellar, regularly spaced inclusions, large stacks of which are birefringent, indicate a peroxisomal dysfunction; their absence does not exclude it. " 01/01/1990 - "An autosomal recessive disorder, congenital adrenal hyperplasia, results from a deficiency in the activity of one of the five enzymes required for cortisol biosynthesis. " 11/01/2007 - "The urea cycle disorders constitute a group of rare congenital disorders caused by a deficiency of the enzymes or transport proteins required to remove ammonia from the body. "
5.	Folic Acid (Vitamin M)FDA LinkGeneric 04/01/2014 - "The HNA led to the identification of the needs to be addressed in Brazil, including the improvement of reporting congenital disorders within the nationwide birth certification system, and revision of the policy of flour folic acid fortification. " 04/01/2013 - "According to modelled estimates, folic acid fortification or supplementation, alcohol intervention, and diabetic management may result in a 46, 32-62, 53, and 54% reduction in the live birth prevalence of specific congenital disorders, respectively. " 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. "
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. "
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."
8.	Microangiopathic hemolytic anemiaIBA 02/01/1995 - "We report on a Japanese girl with Upshaw-Schulman syndrome, a congenital disorder characterized by recurrent thrombocytopenia, microangiopathic hemolytic anemia, proteinuria and hematuria that can be transiently improved by the transfusion of plasma or various plasma components. "
9.	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." 04/03/1981 - "Vaginal spermicides and congenital disorders."
10.	Proteins (Proteins, Gene)IBA 07/02/2013 - "As S-prenylated proteins are often key effectors for oncogenesis, congenital disorders, and microbial pathogenesis, robust proteomic methods are still needed to biochemically characterize these lipidated proteins in specific cell types and disease states. " 05/01/2013 - "Specific granule deficiency (SGD) is a rare congenital disorder characterized by complete absence of proteins in secondary granules. " 01/01/2012 - "We investigated the expression profile of a panel of sarcomeric components with a focus on proteins associated with a group of congenital disorders. " 02/06/2009 - "Congenital disorder of glycosylation Ia: new differentially expressed proteins identified by 2-DE." 07/01/2001 - "Congenital disorders involving defective N-glycosylation of proteins."

Therapies and Procedures

1.	Transplantation (Transplant Recipients) 01/01/2011 - "The transplantation of stem cells and viruses in utero has tremendous potential for treating congenital disorders in the human fetus. " 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. " 11/01/1989 - "The successful outcome in this patient demonstrates that marrow transplantation is at present the only curative approach for this congenital disorder of neutrophil function."
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 - "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. "
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. "
4.	Drug Therapy (Chemotherapy) 01/01/2003 - "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. "
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. " 12/01/2010 - "Syndromic craniosynostosis is a congenital disorder characterised by premature fusion of calvarial sutures combined with other anomalies. " 09/01/2015 - "Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. " 05/01/2012 - "Apert syndrome is a rare congenital disorder characterized by irregular craniosynostosis especially of the coronal suture. "