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Inborn Genetic Diseases (Disease, Hereditary)

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Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.

Also Known As:

Disease, Hereditary; Hereditary Disease; Genetic Diseases, Inborn; Single-Gene Defects; Defect, Single-Gene; Defects, Single-Gene; Disease, Inborn Genetic; Diseases, Hereditary; Diseases, Inborn Genetic; Genetic Disease, Inborn; Inborn Genetic Disease; Single Gene Defects; Single-Gene Defect; Hereditary Diseases

Networked: 842 relevant articles (8 outcomes, 34 trials/studies)

Relationship Network

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 668
- Inborn Genetic Diseases: 842

Related Diseases

1.	Cystic Fibrosis (Mucoviscidosis)
2.	Neoplasms (Cancer)
3.	Infection
4.	Tyrosinemias (Tyrosinemia)
5.	Acute Kidney Injury (Acute Renal Failure)

Experts

1.	Savinkova, L K: 3 articles (04/2014 - 03/2008)
2.	Kolchanov, N A: 3 articles (04/2014 - 03/2008)
3.	Hanemann, C O: 3 articles (01/2014 - 01/2002)
4.	Matsunaga, Akira: 3 articles (05/2013 - 01/2004)
5.	Muñoz, Manuel J: 2 articles (07/2015 - 03/2013)
6.	Kornblihtt, Alberto R: 2 articles (07/2015 - 03/2013)
7.	Petrillo, Ezequiel: 2 articles (07/2015 - 03/2013)
8.	Alló, Mariano: 2 articles (07/2015 - 03/2013)
9.	Finsterer, Josef: 2 articles (06/2015 - 01/2013)
10.	Ammoun, Sylwia: 2 articles (01/2015 - 11/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Inborn Genetic Diseases:

1.	DNA (Deoxyribonucleic Acid)IBA 02/01/2003 - "As Human Genome Project exploration continues, the necessity of having a broader spectrum of genomic DNA material from different nationalities to study various aspects of hereditary disease becomes more obvious. " 07/01/2014 - "DNA testing also can provide valuable insight into the risk of hereditary disease when decisions about treating comorbidities are being made. " 07/01/2014 - "DNA testing is available for a growing number of hereditary diseases in neurology and other specialties. " 01/01/2014 - "The main goal of the article is to describe some of the bioethical aspects of prenatal DNA diagnosis of hereditary diseases with late onset in genetic counselling practice in the Sakha Republic (Yakutia) - a far north-eastern region of Russia. " 08/01/2013 - "To increase access to information on diagnosing hereditary diseases in dogs and cats, a web application has been developed to collect, organize and display information on available DNA tests and other supporting information, including gene and chromosomal locations, mutations, primary research citations and disease descriptions. "
2.	Uric Acid (Urate)IBA 06/01/2015 - "Renal hypouricemia (RHU) is an autosomal recessive hereditary disease characterized by impaired renal urate reabsorption and subsequent profound hypouricemia. " 06/01/2006 - "Idiopathic renal hypouricemia is a hereditary disease characterized by abnormally increased renal excretion of urate. " 07/01/2005 - "Idiopathic renal hypouricemia is a hereditary disease characterized by abnormally high renal uric acid clearance. " 04/01/2012 - "Familial renal hypouricemia is a hereditary disease characterized by extraordinary high renal uric acid (UA) clearance and is associated with acute renal failure (ARF). " 12/01/2008 - "Familial renal hypouricemia is a hereditary disease characterized by extraordinary high renal uric acid clearance and is associated with acute renal failure (ARF). "
3.	Renal hypouricemiaIBA 01/01/2013 - "Renal hypouricemia (RHUC), as an infrequent hereditary disease, is associated with severe complications such as exercise-induced acute renal failure (EIARF). " 06/01/2011 - "Renal hypouricemia (RHU) is a hereditary disease that predisposes affected people to exercise-induced acute renal failure (EIARF). " 06/01/2015 - "Renal hypouricemia (RHU) is an autosomal recessive hereditary disease characterized by impaired renal urate reabsorption and subsequent profound hypouricemia. " 06/01/2006 - "Idiopathic renal hypouricemia is a hereditary disease characterized by abnormally increased renal excretion of urate. " 07/01/2005 - "Idiopathic renal hypouricemia is a hereditary disease characterized by abnormally high renal uric acid clearance. "
4.	Apolipoproteins E (ApoE)IBA 03/01/2002 - "Interestingly, mice with double apoE and RAG2 gene mutations (apoE(-/-) RAG2(-/-)) displayed similar neointimal characteristics as mice with a single gene defect, suggesting a similar mechanism for apoE and lymphocyte protection against injury-induced neointimal formation. " 12/01/1996 - "In the sporadic form, ApoE-immunoreactive deposits colocalized with Congo red-positive deposits; however, in muscle fibers from patients with hereditary disease there was no congophilia. " 05/01/2013 - "Lipoprotein glomerulopathy (LPG) is a hereditary disease characterized by lipoprotein thrombi in the glomerulus, hyperlipoproteinemia, and a marked increase in serum apolipoprotein E (APOE). "
5.	MicroRNAs (MicroRNA)IBA 01/01/2011 - "The frequencies with which the individual miRNA loci were affected in tumors showed statistically significant differences relative to the tissue of origin (colorectal versus gastric versus endometrial), MMR proficiency versus deficiency and sporadic versus hereditary disease. "
6.	Oleic Acid (Oleate)IBA 04/01/2009 - "In cystic fibrosis, a hereditary disease with frequent lung infection with Pseudomonas aeruginosa, the non-esterified fatty acid DA (docosahexaenoic acid), but not OA (oleic acid), is decreased, and DA supplementation has been shown to improve the clinical condition in these patients. "
7.	CosmeticsIBA 01/01/2002 - "Further knowledge is required on the function of the epidermal barrier and the mechanism regulating cohesion/desquamation of the stratum corneum to understand certain hereditary diseases, improve efficacy of topical therapeutic products and optimize cosmetic formulations."
8.	CholesterolIBA 10/01/2014 - "Consistently, hereditary diseases with mutations in cholesterol-related genes result in impaired brain function during early life. " 03/01/1992 - "Schnyder's crystalline dystrophy is an uncommon hereditary disease in which there is abnormal deposition of cholesterol and/or lipid usually in the anterior stroma of the central and peripheral cornea. " 01/01/1988 - "The storage of cholesterol in the mesangial matrix in form of crystals in vitro is specific for the reported hereditary disease and distinguishes it from other diseases in which a glomerular storage of cholesterol is well known." 01/01/1977 - "An extension of these studies to cell strains derived from patients with other single gene defects in cholesterol metabolism has provided additional insight into the normal mechanisms by which cells regulate their cholesterol content and how alterations in these genetic control mechanisms may predispose to atherosclerosis in man." 05/01/2008 - "Smith-Lemli-Opitz syndrome (SLOS) is a complex hereditary disease caused by an enzymatic defect in the last step of cholesterol biosynthesis. "
9.	Recombinant DNA (Recombinant DNA Research)IBA 04/01/1988 - "Recombinant DNA approaches to disease analysis may be as applicable to studies of disease association as they are to the analysis and diagnosis of single-gene defects. " 01/01/1983 - "[Recombinant DNA technics in the study of hereditary diseases]." 07/01/1989 - "[Use of recombinant DNA technics in the diagnosis of hereditary diseases]."
10.	Proteins (Proteins, Gene)IBA 03/01/2004 - "To better understand the mechanisms of these hereditary diseases, we undertook a systematic study to predict the structures of disease proteins and characterize their interactions with other proteins. " 09/01/2013 - "A number of hereditary diseases are caused by defective protein trafficking due to a folding defect resulting from point mutations in proteins. " 01/01/2013 - "Many hereditary diseases are characterized by region-specific toxicity, despite the fact that disease-linked proteins are generally ubiquitously expressed. " 01/01/2013 - "The nuclear envelopathies, more frequently known as laminopathies are a rapidly expanding group of human hereditary diseases caused by mutations of genes that encode proteins of the nuclear envelope. " 11/30/2010 - "These include single gene defects in slit diaphragm proteins, but also discovery of apoptotic, enzymatic and other pathways involved in podocyte injury. "

Therapies and Procedures

1.	Investigational Therapies (Experimental Therapy) 04/01/2007 - "This broader view of the role of lysosomes in cells not only provides insight into how single gene defects impacting on lysosomal function can result in the plethora of complex cellular transformations characteristic of these diseases, but also suggests new and innovative therapies that may hold considerable promise for ameliorating disease progression."
2.	Transplants (Transplant) 01/27/2014 - "Independent predictive factors for poor socioprofessional outcome were primary disease severity (onset in infancy or hereditary disease), the presence of comorbidities or sensorial disabilities, low educational level of the patient or his parents, female gender, and being on dialysis after graft failure. " 06/01/1992 - "[Bone marrow graft in hereditary diseases]." 01/01/2006 - "The reconstruction of defects resulting from radical excisions, trauma, or hereditary diseases has seen the use of combined grafts and flaps. " 06/01/1984 - "Interstitial pneumonitis occurred in 9 patients in our study (14%); the relationship between the incidence of interstitial pneumonitis and many factors such as irradiation treatment techniques, pre-graft chemotherapy, bone marrow malignant as well hereditary diseases, are discussed and related to a detailed literature review. " 01/01/2010 - "Hematopoietic stem cells transplantation (HSCT) is the leading curative therapy for a variety of hematological and hereditary diseases; however, graft versus host disease (GVHD), an immunologic phenomenon that is favored by Th1 cytokines and cytotoxic cells from donors, is present frequently and is one of the most important causes of transplant related mortality. "
3.	Drug Therapy (Chemotherapy) 05/01/2006 - "Misdiagnosis of AL can lead to inappropriate use of chemotherapy and failure to diagnose a hereditary disease. " 04/01/1996 - "In this article we review approaches which use the multidrug-resistance gene to protect bone marrow from myelosuppression following chemotherapy and as a selectable markerin vivo to increase the expression of nonselectable genes which correct hereditary diseases of the hematopoietic system." 06/01/1984 - "Interstitial pneumonitis occurred in 9 patients in our study (14%); the relationship between the incidence of interstitial pneumonitis and many factors such as irradiation treatment techniques, pre-graft chemotherapy, bone marrow malignant as well hereditary diseases, are discussed and related to a detailed literature review. " 04/01/2008 - "Of these, 51.8% knew someone who had epilepsy, 56.4% had witnessed an epileptic seizure, 45.9% believed that epilepsy is a hereditary disease, 60.4% reported that "all epileptic fits manifest symptoms of generalized tonic-clonic seizure," 88.3% indicated that putting an object into the patient's mouth to prevent tongue biting during a seizure is appropriate, and 57.1% stated that drug therapy was the only treatment available for epilepsy. " 01/16/2014 - "Mutations in the gene coding for a tumour suppressor merlin cause development of multiple tumours of the nervous system such as schwannomas, meningiomas and ependymomas occurring spontaneously or as part of a hereditary disease neurofibromatosis type 2. The benign character of merlin-deficient tumours makes them less responsive to chemotherapy. "
4.	Liver Transplantation 06/15/2010 - "For acute, chronic, or hereditary diseases of the liver, cell transplantation therapies can stimulate liver regeneration or serve as a bridge until liver transplantation can be performed. " 10/28/2013 - "In addition to liver failure, for acute, chronic and hereditary diseases of the liver, cell transplantation therapies can stimulate regeneration or at least ensure sufficient function until liver transplantation can be performed. " 12/15/2009 - "After excluding patients with malignancy, collagen disease, bone marrow failure, prematurity, hereditary disease, congenital neutropenia, immunodeficiency, or status post-liver transplantation, 735 admissions with acquired neutropenia were included in our study. "
5.	Induced Abortion (Induced Abortions) 02/01/1985 - "If a severe hereditary disease is confirmed by prenatal diagnosis, often the only "therapy" available is the termination of pregnancy or induced abortion on the grounds of genetic or "foetal" indication, a "therapy" which is of course unsatisfactory. " 04/01/1986 - " They were asked to respond to the following reasons for having induced abortion by circling agree, somewhat agree, somewhat opposed, or opposed: 1) unexpected pregnancy at financially difficult times, 2) unwanted sex of fetus revealed by amniocentesis, 3) unwanted pregnancy with a possible hereditary disease 4) some disability of the child revealed by the fetal examination, 5) pregnancy due to rape, 6) pregnancy due to wife's adultery, 7) maternal health risk, 8) unwanted pregnancy, 9) teenage pregnancy (junior high age), 10) German measles contracted during the 1st trimester, 11) untimely pregnancy interfering with a woman's career or college studies, and 12) women's freedom of choice. "