inherited disease

Other forms: inherited diseases

Definitions of inherited disease

1. noun

   a disease or disorder that is inherited genetically
   synonyms: congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disorder

   types:

   monogenic disease, monogenic disorder

   an inherited disease controlled by a single pair of genes

   polygenic disease, polygenic disorder

   an inherited disease controlled by several genes at once

   achondroplasia, achondroplasty, chondrodystrophy, osteosclerosis congenita

   an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism

   abetalipoproteinemia

   a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels

   inborn error of metabolism

   any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism

   Hirschsprung's disease, congenital megacolon

   congenital condition in which the colon does not have the normal network of nerves; there is little urge to defecate so the feces accumulate and cause megacolon

   mucopolysaccharidosis

   any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues

   hyperbetalipoproteinemia

   a genetic disorder characterized by high levels of beta-lipoproteins and cholesterol; can lead to atherosclerosis at an early age

   ichthyosis

   any of several congenital diseases in which the skin is dry and scaly like a fish

   branched chain ketoaciduria, maple syrup urine disease

   an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood

   McArdle's disease

   an inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle; results in weakness and cramping

   dystrophy, muscular dystrophy

   any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles

   oligodactyly

   congenital condition in which some fingers or toes are missing

   oligodontia

   congenital condition in which some of the teeth are missing

   otosclerosis

   hereditary disorder in which ossification of the labyrinth of the inner ear causes tinnitus and eventual deafness

   autosomal dominant disease, autosomal dominant disorder

   a disease caused by a dominant mutant gene on an autosome

   autosomal recessive defect, autosomal recessive disease

   a disease caused by the presence of two recessive mutant genes on an autosome

   Fanconi's anaemia, Fanconi's anemia, congenital pancytopenia

   a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow

   Spielmeyer-Vogt disease, juvenile amaurotic idiocy

   a congenital progressive disorder of lipid metabolism having an onset at age 5 and characterized by blindness and dementia and early death

   congenital afibrinogenemia

   a rare congenital disorder of blood coagulation in which no fibrinogen is found in the blood plasma

   Albers-Schonberg disease, marble bones disease, osteopetrosis

   an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated

   nevoid elephantiasis, pachyderma

   thickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction

   dwarfism, nanism

   a genetic abnormality resulting in short stature

   lactase deficiency, lactose intolerance, milk intolerance

   congenital disorder consisting of an inability to digest milk and milk products; absence or deficiency of lactase results in an inability to hydrolyze lactose

   porphyria

   a genetic abnormality of metabolism causing abdominal pains and mental confusion

   Wilson's disease, hepatolenticular degeneration

   a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain

   diabetes

   a polygenic disease characterized by abnormally high glucose levels in the blood; any of several metabolic disorders marked by excessive urination and persistent thirst

   SCID, severe combined immunodeficiency, severe combined immunodeficiency disease

   a congenital disease affecting T cells that can result from a mutation in any one of several different genes; children with it are susceptible to infectious disease; if untreated it is lethal within the first year or two of life

   CF, cystic fibrosis, fibrocystic disease of the pancreas, mucoviscidosis, pancreatic fibrosis

   the most common congenital disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single gene; no cure is known

   galactosemia

   a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth

   Gaucher's disease

   a rare chronic disorder of lipid metabolism of genetic origin

   Huntington's chorea, Huntington's disease

   hereditary disease; develops in adulthood and ends in dementia

   Hurler's disease, Hurler's syndrome, dysostosis multiplex, gargoylism, lipochondrodystrophy

   hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation

   malignant hyperthermia

   hereditary condition in which certain anesthetics (e.g., halothane) cause high body temperatures and muscle rigidity

   Marfan's syndrome

   an autosomal dominant disease characterized by elongated bones (especially of limbs and digits) and abnormalities of the eyes and circulatory system

   neurofibromatosis, von Recklinghausen's disease

   autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities

   osteogenesis imperfecta

   autosomal dominant disorder of connective tissue characterized by brittle bones that fracture easily

   Becker muscular dystrophy

   a form of muscular dystrophy that sets in in adolescence or adulthood and progresses slowly but will affect all voluntary muscles; characterized by generalized weakness and muscle wasting that affects limb and trunk muscles first; similar to Duchenne's muscular dystrophy but less severe; inheritance is X-linked recessive (carried by females but affecting only males)

   distal muscular dystrophy

   a form of muscular dystrophy that sets in between 40 and 60 years of age and is characterized by weakness and wasting of the muscles of the hands and forearms and lower legs; inheritance is autosomal dominant

   Duchenne's muscular dystrophy, pseudohypertrophic dystrophy

   the most common form of muscular dystrophy; inheritance is X-linked recessive (carried by females but affecting only males)

   limb-girdle muscular dystrophy

   an autosomal recessive form of muscular dystrophy that appears anywhere from late childhood to middle age; characterized by progressive muscular weakness beginning either in the shoulder or pelvic girdle; usually progresses slowly with cardiopulmonary complications in the later stages

   lysinemia

   an inborn error of metabolism in which the lack of certain enzymes leads to an inability to metabolize the amino acid lysine; characterized by muscular weakness and mental retardation

   Steinert's disease, myotonia atrophica, myotonic dystrophy, myotonic muscular dystrophy

   a severe form of muscular dystrophy marked by generalized weakness and muscular wasting that affects the face and feet and hands and neck; difficult speech and difficulty with the hands that spreads to the arms and shoulders and legs and hips; the onset can be any time from birth to middle age and the progression is slow; inheritance is autosomal dominant

   oculopharyngeal muscular dystrophy

   a form of muscular dystrophy that usually begins between early adulthood and middle age and first affects muscles of the eyelid and throat; progresses slowly with swallowing problems common as the disease progresses; inheritance is autosomal dominant

   Niemann-Pick disease

   a disorder of lipid metabolism that is inherited as an autosomal recessive trait

   crescent-cell anaemia, crescent-cell anemia, drepanocytic anaemia, drepanocytic anemia, sickle-cell anaemia, sickle-cell anemia, sickle-cell disease

   a congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape

   Sachs disease, Tay-Sachs, Tay-Sachs disease, infantile amaurotic idiocy

   a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood

   thrombasthenia

   a rare autosomal recessive disease in which the platelets do not produce clots in the normal way and hemorrhage results

   tyrosinemia

   autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation

   Werdnig-Hoffman disease

   autosomal recessive disease in which the degeneration of spinal nerve cells and brain nerve cells leads to atrophy of skeletal muscles and flaccid paralysis; death usually occurs in early childhood

   Mediterranean anaemia, Mediterranean anemia, thalassaemia, thalassemia

   an inherited form of anemia caused by faulty synthesis of hemoglobin

   familial hypercholesterolemia

   congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis

   pycnodysostosis

   a form of dwarfism accompanied by fragile bones and bad teeth

   PKU, phenylketonuria

   a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency

   xeroderma, xerodermia

   a mild form of ichthyosis characterized by abnormal dryness and roughness of the skin

   type of:

   disease

   an impairment of health or a condition of abnormal functioning