Ad
related to: list of monogenic diseases and disorders caused
Search results
Results from the WOW.Com Content Network
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome.
GATAD2B-associated neurodevelopmental disorder; Genetics of GnRH deficiency conditions; Global Genes; Glutaminase deficiency; Glycogen storage disease type IX; Gollop-Wolfgang complex; GOSR2-related progressive myoclonus ataxia
Degenerative disc disease; Dejerine–Roussy syndrome; Delayed sleep phase disorder; Delusional misidentification syndrome; Delusional parasitosis; Dennie–Marfan syndrome; Dentomandibular sensorimotor dysfunction; Denys–Drash syndrome; DeSanctis–Cacchione syndrome; Descending perineum syndrome; Diabetic stiff hand syndrome; Dialysis ...
Heart disorders (Congenital heart defects) Hemifacial microsomia; Holoprosencephaly; Huntington's disease; Hirschsprung's disease, or congenital aganglionic megacolon; Hypertrichosis; Hypoglossia; Hypomelanism or hypomelanosis (albinism) Hypospadias; Haemophilia; Heterochromia; Hemochromatosis
A medical condition is a broad term that includes all diseases and disorders. A disease is an abnormal condition affecting the body of an organism. A disorder is a functional abnormality or disturbance. Lists of animal diseases; List of autoimmune diseases; List of cancer types; List of childhood diseases and disorders; List of endocrine ...
Monogenic may refer to: Monogenic signal, in the theory of analytic signals; Monogenic disorder, disease, inheritance, or trait, a single gene disorder resulting from a single mutated gene. Monogenic diabetes, or maturity-onset diabetes of the young (MODY), forms of diabetes caused by mutations in an autosomal dominant gene; Monogenic obesity
More than 145 monogenic diseases have been identified that cause dementia with onset in childhood. Examples include lysosomal disorders such as Sanfilippo syndrome, Niemann-Pick disease type C and Neuronal Ceroid Lipofuscinoses (NCLs or Batten Disease), some mitochondrial diseases such as Leigh syndrome and peroxisomal disorders such as X ...
Ad
related to: list of monogenic diseases and disorders caused