Inborn Genetic Diseases (Disease, Hereditary)

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

Related Diseases

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


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
2. Uric Acid (Urate)IBA
3. Renal hypouricemiaIBA
4. Apolipoproteins E (ApoE)IBA
5. MicroRNAs (MicroRNA)IBA
6. Oleic Acid (Oleate)IBA
7. CosmeticsIBA
8. CholesterolIBA
9. Recombinant DNA (Recombinant DNA Research)IBA
10. Proteins (Proteins, Gene)IBA

Therapies and Procedures

1. Investigational Therapies (Experimental Therapy)
2. Transplants (Transplant)
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
5. Induced Abortion (Induced Abortions)