hereditary disease


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hereditary disease

hereditary disease

A disease caused by genetic factors transmitted from parent to offspring. Also known as an inherited disease.
See: table *Approximate number of affected persons per number of births; ethnic predominance in parentheses where known.
NameHow is it inherited?What is the problem?When does it become symptomatic or apparent?How common is it?*
Alpha1-antitrypsin deficiencyAutosomal dominantDeficiency of enzyme that protects liver and lungs from enzymatic injury. Results in early onset of chronic obstructive pulmonary disease (COPD) or liver disease. There are more than 70 genetic variants.Childhood: Liver disease; Adulthood: Lung diseaseHomozygotes: 1:3000
Autosomal dominant polycystic kidney diseaseAutosomal dominantAbnormal cell membrane protein predisposes to cyst formation in epithelial organs, esp. the kidney. Causes about 5% of all end-stage renal disease in the U.S.Renal failure usually by ages 55 to 601:1000 (Europeans)
Chronic granulomatous diseaseX-linked or autosomal recessiveDefect in phagocytic cells results in susceptibility to recurrent severe infectionsInfancy/Early childhood1: 300,000
Color blindness (red-green)X-linked recessiveAbnormalities of visual pigment expression in retinal cone cellsChildhood1:12-20 males 1:200 females
Cystic fibrosisAutosomal recessiveAbnormality in cellular sodium and chloride management. Infant may have meconium ileus at birth; later, azoospermia, biliary, lung, pancreatic, and sinus diseaseEarly childhoodHeterozygotes: 1:2000 (United Kingdom); 1:3500 (U.S.); 1:350,000 (Japan)
Diabetes mellitus, type 2PolygenicResistance to the action of insulin in muscles and other peripheral tissues; insufficient insulin production by the pancreas. Hyperglycemia, with metabolic damage to eyes, kidneys, nerves, and blood vesselsOften at onset of inactivity; patient is overweight or obese, usually in adulthood1-30:1000 per year; highest incidence in some ethnic groups (Africans, Hispanics, Native Americans, Polynesians)
Duchenne muscular dystrophyX-linked recessiveMissing protein within myocyte membranes results in weakness of proximal muscles, with difficulty walking, frequent falling, and pseudohypertrophy of muscle groupsEarly childhood1:3000-5000 (Europeans)
Familial adenomatous polyposisAutosomal dominantFaulty gene results in growth of hundreds of polyps within the large bowel, with the potential for malignant transformationAdolescence/early adulthood1-2:1,000,000
Familial hyper-cholesterolemiaAutosomal dominantExcessively high levels of LDL and total cholesterol, resulting in premature atherosclerosisHomozygotes may have heart attacks in their 20sHeterozygotes: 1:500 Homozygotes: 1:3,000,000
Hemophilia AX-linkedInsufficient production of clotting factor VIII. Produces bleeding, esp. into injured joints or after surgeryEarly childhood1:5000 to 10,000 males
Hemophilia BX-linkedInsufficient production of clotting factor IX. Produces bleeding, esp. into injured joints and after surgeryEarly childhood1:30,000 males
Hereditary hemochromatosisAutosomal recessiveIncreased iron absorption from the gastrointestinal tract. Iron deposits gradually accumulate in and damage joints, pancreas, liver, heart, testesMiddle ageHeterozygotes: 1: 8 Homo-zygotes: 1:200
Huntington diseaseAutosomal dominantDegeneration of the caudate nucleus of the brain, with early onset dementia, schizophreniform illnesses, and movement disorders (chorea)Middle age1:115,000
Long QT syndromeAutosomal recessive; autosomal dominantAbnormalities in management of sodium by myocytes results in prolonged action potentials and cardiac depolarization, producing life-threatening heart rhythm disturbances. Recessive form (very rare) associated with deafnessChildhood and adolescenceNot well quantified
Marfan syndromeAutosomal dominantMutations in a gene that produces extracellular matrix protein result in tall body type, with elongated fingers; flat feet; hernias; hyperextensible joints; sternal deformities; and potential for aortic dissectionRisk of aortic dissection highest after age 501:10,000
Neurofibromatosis I and IIAutosomal dominantAbsence of a tumor-suppressing gene results in growth of multiple skin and nerve tumorsInfancy1:3000
Phenylketonuria (hyperphenylalanemia)Autosomal recessiveInability to convert phenylalanine to tyrosine. Results in eczema and hypopigmentation, hyperactivity, mental retardation, and seizuresInfancy1:16,000 (general U.S. population) to 1:200,000 (lower incidence in African Americans and Jews)
Porphyria, acute intermittentAutosomal dominantAttacks of abdominal pain, sometimes associated with autonomic dysfunction, muscle weakness, seizuresAdolescence1:10,000 (Most common in Northern Europeans)
Rett syndromeX-linked dominantAfter a brief period of normal development, young girls regress neurologically, developing speech disturbances, loss of normal hand movements, seizures, ataxia, and autismSix to 18 months old1:10-15,000
Sickle cell anemiaAutosomal recessiveAbnormal amino acid in hemoglobin molecule results in deformed red blood cells that may cause infarcts in bones and other internal organs. High risk of pneumococcal infections and painful crisesEarly childhoodHeterozygotes: (African-Americans) 8-13:100 (Brazilians) 5-6:100
Tay-Sachs diseaseAutosomal recessiveDeficiency of enzyme results in accumulation of sphingolipids in the brain, causing mental retardation, blindness, paralysisEarly childhoodHeterozygotes (Eastern European Jews) 1:25
See also: disease
References in periodicals archive ?
In gratitude for the participation of the families, the Hereditary Disease Foundation worked, together with the Venezuelan local authorities, to build the Casa Hogar.
Wexler, who is president of the Hereditary Disease Foundation, said, "My dream is to have a magic pill that we can give to people who are carrying the abnormal Huntington's gene.
QIAGEN continues to expand our solutions to enable the incredible advances that clinical research labs are making every day, particularly in next-generation sequencing for hereditary diseases, said Dr.
Dr Al Hejari said Salmanyia Medical Complex's hereditary disease group counsels up to 80 couples a year
The Huntington's Disease Association (HDA) won the prestigious GlaxoSmithKline IMPACT Award for its outstanding contribution to improving the lives of people with the hereditary disease across the UK.
Ahmed Al Hinai, 29, and married, pointed out that he and his wife went for the tests to make sure that both parties do not suffer from any hereditary diseases.
Thalassemia is a hereditary disease which affects the production of blood, so that Hemoglobin in the red blood cells is rendered unable to do its job, causing a hereditary and chronic anemic disorder which affects children in their early years as a result of inheriting two deficient genes, one from the father and the other from the mother.
One of its unique selling points is its ability to conduct hereditary disease analysis for a range of conditions with just one test, rather than having to test for each individually.
The madness of her grandfather, George III, was caused by porphyria, a hereditary disease - but none of her descendants has suffered from it.
Though many Yemenis prefer marry into same family with their relatives for considerations related to tribal and social heritage, doctors said that the practice should be discontinued, following reports about a family of 200 people all carrying the same hereditary disease.
New hope has been given to sufferers of a hereditary disease affecting the retina after the first UK operations were carried out to implant so-called "bionic eyes" into patients, it was disclosed yesterday.
Cystic fibrosis, a genetic disease which affects the internal organs, is the most common hereditary disease and affects around one in every 2,500 babies.

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