Inherited diseases
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- Hemophilia A is an inherited bleeding disorder characterized by deficiency of the coagulation protein factor VIII.
- Autoinflammatory disorders are inherited diseases of innate immunity leading to uncontrolled activation of the interleukin-1 pathway.
- Pancreatic endocrine tumours (PETs) occur sporadically or are inherited as part of the multiple endocrine neoplasia type-1 syndrome.
- Hereditary axonal motor and sensory neuropathy or Charcot-Marie-Tooth type 2 (CMT2) is a common inherited peripheral neuropathy.
- Von Hippel-Lindau disease is an inherited syndrome associated with several benign and malignant tumors such as central nervous system (CNS) hemangioblastoma.
- beta-Thalassemia, originally named Cooley anemia, is an inherited blood disease.
- Medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenase (M/SCHAD) deficiency is a recessively inherited disorder of fatty acid oxidation.
- Although many Alzheimer's disease (AD) patients have a family history of the disease, it is rarely inherited in a predictable way.
- Gaucher Disease (GD) is a rare inherited lysosomal storage disease caused by biallelic mutations in the gene encoding the lysosomal enzyme acid β-glucocerebrosidase, with progressive accumulation of the sphingolipid glucosylceramide in the lysosomes of macrophages, mainly in the liver, spleen, bone, and bone marrow.
- Pseudoxanthoma elasticum (PXE) is an inherited systemic disorder characterized by calcification of elastic tissue, affecting the skin, the eyes and vascular system.
- Propionate inborn errors of metabolism (PIEM), including propionic (PA) and methylmalonic (MMA) acidemias, are inherited metabolic diseases characterized by toxic accumulation of propionic, 3-hydroxypropionic, methylcitric, and methylmalonic organic acids in biological fluids, causing recurrent acute metabolic acidosis events and encephalopathy, which can lead to fatal outcomes if managed inadequately.
- The dominantly inherited spinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by progressive gait ataxia, upper limb incoordination, and dysarthria.
- Hypophosphatasia (HPP) is a rare inherited genetic condition caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase, resulting in decreased alkaline phosphatase (ALP) activity.
- Constitutional mismatch repair deficiency (CMMRD) is a rare, recessively inherited childhood cancer predisposition syndrome caused by biallelic germline mutations in one of the mismatch repair genes.
- Congenital adrenal hyperplasia (CAH) is an inherited disorder of steroid biosynthesis most often attributable to mutations in CYP21 (also termed CYP21A2) encoding the active steroid 21-hydroxylase enzyme.
- Multiple endocrine neoplasia type 2A (MEN 2A) and familial medullary thyroid carcinoma (FMTC) are two dominantly inherited disorders caused by germline mutations of the RET proto-oncogene.
- Inherited retinopathies (IRs) are common and untreatable blinding conditions inherited mostly as monogenic due to mutations in genes expressed in retinal photoreceptors (PRs) and in retinal pigment epithelium (RPE).
- Malignant hyperthemia is an autosomal-dominant inherited disorder of the skeletal muscle cell charac terized by a hypermetabolic response to all commonly used inhalational anesthetics and depolarizing muscle relaxants.
- Hypertrophic cardiomyopathy (HC) is a common genetic disease, the most frequent cause of sudden cardiac death in the young, and also an important cause of heart failure isability at any age.
- The 14484 mutation in the ND6 gene of mitochondrial DNA (mtDNA) is a genetic mutation associated with Leber's hereditary optic neuropathy (LHON)in Caucasian patients who show a high incidence of visual recovery.
- The Hereditary Non-Polyposis Colorectal Cancer (HNPCC), also known as Lynch Syndrome (LS), is an autosomal dominantly inherited cancer syndrome that accounts for about 3-5% of all colorectal cancers (CRCs).