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: 933 relevant articles (11 outcomes, 30 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Neoplasms (Cancer)
2.	Hemophilia A (Haemophilia)
3.	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal)
4.	Thrombocytopenia (Thrombopenia)
5.	Chronic Disease (Chronic Diseases)

Experts

1.	Freeze, Hudson H: 21 articles (01/2021 - 03/2002)
2.	Jaeken, Jaak: 18 articles (08/2021 - 05/2003)
3.	Morava, Eva: 15 articles (01/2022 - 10/2012)
4.	Thiel, Christian: 12 articles (05/2022 - 03/2002)
5.	Seta, Nathalie: 12 articles (01/2021 - 06/2002)
6.	Lefeber, Dirk J: 11 articles (01/2021 - 10/2012)
7.	Ng, Bobby G: 11 articles (01/2021 - 05/2012)
8.	Pérez, Belén: 10 articles (10/2022 - 02/2009)
9.	Barone, Rita: 9 articles (10/2021 - 08/2008)
10.	Serrano, Mercedes: 9 articles (01/2021 - 10/2015)

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 11/27/2022 - "Hemophilia A is an X-linked congenital disorder, characterized by factor VIII (FVIII) deficiency. " 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). "
2.	EnzymesIBA 05/01/2022 - "Missense variants of this enzyme cause an inborn error of metabolism, which is categorized as a congenital disorder of glycosylation. " 10/01/2018 - "Mutations in the NGLY1 (N-glycanase 1) gene, encoding an evolutionarily conserved deglycosylation enzyme, are associated with a rare congenital disorder leading to global developmental delay and neurological abnormalities. " 01/01/2012 - "The congenital disorder of glycosylation (CDG)-Ic (ALG6-CDG, CDG-Ic) is caused by mutations in the hALG6 gene that encodes the N-glycosylation pathway enzyme, α-1,3-glucosyltransferase (NP_037471.2). " 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. "
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 - "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. " 01/01/2017 - "Fanconi anemia (FA) is a congenital disorder manifested with elevated sensitivity toward DNA interstrand cross-linking agents, and monoubiquitination of FANCD2 by FANCL is a crucial step in FA-mediated DNA repair. "
4.	Folic Acid (Vitamin M)FDA LinkGeneric 01/01/2018 - "Despite efforts to increase folic acid (FA) intake, even within countries mandating FA fortification, there remain pregnant women with folate levels inadequate to minimize congenital disorders (e.g., of the neural tube, heart, and lip/palate). " 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. "
5.	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. "
6.	Galactose (Galactopyranose)FDA LinkGeneric 01/01/2023 - "Previous research showed that D-galactose supplementation results in clinical improvement in patients with a congenital disorder of glycosylation due to germline variants in SLC35A2. " 01/01/2021 - "The growing number of rare congenital disorders involving galactose along with its recent therapeutical applications are drawing increasing attention to galactose metabolism. " 11/01/2009 - "In this contemporary review, we take a unique approach to present an overview of galactose toxicity resulting from the three known congenital disorders of galactose metabolism and from experimental hypergalactosemia. " 03/21/1975 - "[Congenital disorders of galactose metabolism]."
7.	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. "
8.	Docosahexaenoic AcidsIBA 01/01/2020 - "Docosahexaenoic acid (DHA) is effective in the prevention and treatment of cancer, congenital disorders, and various chronic diseases. "
9.	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."
10.	Proteins (Proteins, Gene)FDA Link 01/01/2017 - "A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis." 11/22/2023 - "The loss of function of ameloblast-derived proteins results in a group of rare congenital disorders called amelogenesis imperfecta2. " 04/01/2023 - "Ribosomopathies are rare congenital disorders associated with defective ribosome biogenesis due to pathogenic variations in genes that encode proteins related to ribosome function and biogenesis. " 01/01/2022 - "The clinical overlap between the congenital disorders of autophagy and these conditions reflects the multiple roles of the proteins and/or emerging molecular connections between the pathways implicated and suggests an exciting area for future research. " 01/01/2022 - "Pathogenic variants in NOTCH2 which encodes a single-pass transmembrane protein have been identified as a cause of several autosomal dominant congenital disorders. "

Therapies and Procedures

1.	Transplantation 01/01/2021 - "This in-a-dish model of human hepato-biliary-pancreatic organogenesis provides a unique platform for studying human development, congenital disorders, drug development and therapeutic transplantation. " 08/03/2020 - "Uterus transplantation (UTx) can provide a route to motherhood for women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), a congenital disorder characterized by uterovaginal aplasia, but with functional ovaries. " 01/27/2011 - "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. "
2.	Therapeutics 06/01/2018 - "The lack of effective treatment for HSCR urges continuous efforts to develop new therapies for this congenital disorder. " 11/01/2023 - "However, various congenital disorders exhibit severe developmental defects or cell loss at birth, limiting the potential for viral gene therapy. " 05/01/2022 - "Genetic diversity can also manifest in local or region-specific rare congenital disorders, and in vivo gene therapies hold the promise of developing treatments and cures for these debilitating disorders. " 01/01/2022 - "Therapy development for congenital disorders of autophagy is still in its infancy but may result in the identification of molecules that target autophagy more specifically than currently available compounds. " 01/01/2022 - "To contrive effective therapeutics against this debilitating congenital disorder, it is imperative to comprehend the structural ramifications induced by mutations in APoA1's dynamic conformation. "
3.	Liver Transplantation 04/18/2023 - "Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (ATP6AP1), and Liver Transplantation." 08/01/2007 - "There were 4 late deaths after portoenterostomy: 2 from associated congenital disorders and 2 after liver transplantation. " 09/01/2021 - "Congenital disorders of the biliary tract are the primary reason for pediatric liver failure and ultimately for pediatric liver transplant needs. " 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. " 08/12/2021 - "It was found that the AML incidence had no association with age, gender, radiation therapy, cigarette smoking, prior chemotherapy, congenital disorders, exposure to chemical agents, history of infectious mononucleosis, exercise, and blood transfusion (P>0.05). " 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. " 01/01/2023 - "Nonsyndromic unilateral coronal craniosynostosis (UCS) is a rare congenital disorder that results from premature fusion of either coronal suture. " 09/01/2022 - "Unilateral coronal craniosynostosis (UCS) is a congenital disorder resulting from the premature suture fusion, leading to complex primary and compensatory morphologic changes in the shape of not only the calvarium and but also into the skull base. " 12/01/2010 - "Syndromic craniosynostosis is a congenital disorder characterised by premature fusion of calvarial sutures combined with other anomalies. "