AUTOSOMAL DOMINANT DISORDER

Pronunciation (US):

(GB):

 Dictionary entry overview: What does autosomal dominant disorder mean? 

• AUTOSOMAL DOMINANT DISORDER (noun)
  The noun AUTOSOMAL DOMINANT DISORDER has 1 sense:

1. a disease caused by a dominant mutant gene on an autosome

  Familiarity information: AUTOSOMAL DOMINANT DISORDER used as a noun is very rare.

 Dictionary entry details 

• AUTOSOMAL DOMINANT DISORDER (noun)

Sense 1

Meaning:

A disease caused by a dominant mutant gene on an autosome

Classified under:

Nouns denoting stable states of affairs

Synonyms:

autosomal dominant disease; autosomal dominant disorder

Hypernyms ("autosomal dominant disorder" is a kind of...):

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)

Hyponyms (each of the following is a kind of "autosomal dominant disorder"):

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)

 Context examples 

Mutations in the gene result in autosomal dominant disorder, familial hypercholesterolemia.

(LDLR wt Allele, NCI Thesaurus)

An autosomal dominant disorder characterized by a history of multiple relapses and remissions of pemphigus lesions.

(Familial Benign Pemphigus, NCI Thesaurus)

Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia.

(Low Density Lipoprotein Receptor, NCI Thesaurus/LocusLink)

An autosomal dominant disorder caused by mutations in the NF2 tumor suppressor gene.

(Neurofibromatosis type 2, NCI Thesaurus)

A rare, autosomal dominant disorder caused usually by mutations in the KIT gene.

(Piebaldism, NCI Thesaurus)

An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm.

(Facioscapulohumeral Muscular Dystrophy, NCI Thesaurus)

A rare autosomal dominant disorder caused by mutations in the CNBP gene.

(Dystrophia Myotonica 2, NCI Thesaurus)

A rare autosomal dominant disorder caused by mutations in the RUNX2 gene.

(Cleidocranial Dysplasia, NCI Thesaurus)

An autosomal dominant disorder most often caused by mutations in the PRKAR1A gene.

(Carney complex, NCI Thesaurus)

An autosomal dominant disorder characterized by a widely distributed, well-demarcated hyperkeratosis of the palms and soles.

(Diffuse Palmoplantar Keratoderma, NLM, Medical Subject Headings)