autosomal dominant disease

Also found in: Thesaurus.

Related to autosomal dominant disease: autosomal recessive disease, Hereditary diseases, Genetic diseases, Genetic defects, inherited diseases

ThesaurusAntonymsRelated WordsSynonymsLegend:

Switch to new thesaurus

Noun

autosomal dominant disease - a disease caused by a dominant mutant gene on an autosome

autosomal dominant disorder

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

Huntington's chorea, Huntington's disease - hereditary disease; develops in adulthood and ends in dementia

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

References in periodicals archive ?

Tumor necrosis factor receptor associated periodic syndrome is an autosomal dominant disease. It manifests as fever episodes lasting 1-3 weeks, conjunctivitis, periorbital edema, arthralgia, myalgia, an erythematous migratory plague, and possible polyserositis.

Novel presentations of periodic fever syndromes: Discrepancies between genetic and clinical diagnoses

Width of each fold ranges from 0.75 cm to 4 cm and depth of each group ranges from 3 to 10 cm with average being 1 cm2.1 Darier disease is an autosomal dominant disease due to mutations in ATP2-A2-gene that leads to abnormal keratinization.

Cutis verticis gyrata and leonine face in a patient with Darier disease: A case report and review of the literature

HRs with Nephrolithiasis and Osteoporosis type 2 (Nephrolithiasis/osteoporosis, hypophosphatemic, 2, NPHLOP2, MIM 612287) is an autosomal dominant disease caused by mutations in the SLC9A3R1 (MIM 604990).

Genetic Causes of Rickets

It is an autosomal dominant disease occurring equally in all races and ethnic groups and equally in both sexes.

Importance of histopathology in a case of tuberous sclerosis complex

Polycystic kidney that occurs in adults is an autosomal dominant disease due to the genetic mutations leading to the expression of the proteins polycystin 1 (ADPKD1) and polycystin 2 (ADPKD2).

Isthmus Undivided Bilateral Nephrectomy in a Patient with Polycystic Horseshoe Kidney

Familial moyamoya is reported as an autosomal dominant disease with incomplete penetrance.

Moyamoya disease mimicking encephalitis

* Neurofibromatosis 2 (NF2) is an autosomal dominant disease affecting one in 25,000 individuals.

Painless cutaneous nodules: the lesions on the patient's body were getting caught on his clothes. He said that his mother and several of his siblings had similar "lumps."

First degree relatives have 50% chance of this autosomal dominant disease.

Comparison of classical and probable heterozygous familial hypercholesterolemia cases with controls

Recall that the road to the use of statins in many ways started with familial hypercholesterolemia, an autosomal dominant disease. Note that renal failure in African Americans can now frequently be linked to autosomal recessive inheritance of common APOL1 mutations.

Gregor Mendel and 21st century medicine

Tuberous sclerosis is an autosomal dominant disease characterized by the development of benign neoplasia (hamartomas) on the skin and internal organs.3 It is seen in one per 10.000 live births.4 These hamartomas can be formed from mature adipocytes, smooth muscle cells and blood vessels.

Tuberous sclerosis diagnosed in adult age

Gorlin-Goltz syndrome (also known as nevoid basal cell carcinoma syndrome) was first reported in 1894, but described by Gorlin and Goltz in 1960 as a distinct entity consisting of ectodermal and mesodermal abnormalities.(1) It is an hereditary autosomal dominant disease with a prevalence estimated in various studies to be between 1/57 000 and 1/256 000, and a male: female ratio of 1:1.(2) We describe in brief the important radiological features of an accidentally detected case of Gorlin syndrome in the form of a pictorial interlude.

Gorlin syndrome--an incidental radiographic detection

Researchers who have studied the MCUL's genetic profile have found that highly penetrant mutations in an enzyme on chromosome 1 cause the condition, an autosomal dominant disease. A host of mutations has been found in affected families, and certain patterns have emerged.