genetic disorder
Inherited DNA abnormality
A genetic disorder is a disease or condition caused by abnormalities in a person's DNA—mutations inherited from parents or arising spontaneously.
Some, like cystic fibrosis or sickle cell anemia, follow predictable inheritance patterns; others involve complex interactions among multiple genes.
The couple underwent testing to see if they carried genes for any genetic disorders.
Property received from ancestors
- carrierOne that transports
- pedigreeRecord of descent
- family historyRecord of ancestors
- risk assessmentEvaluating likelihood of harm
heredity · consanguinity · penetrance · expressivity · heterozygous · homozygous · germline · newborn screening
Hereditary anemia with misshapen erythrocytes
- hemophiliaGenetic clotting impairment
- thalassemiaHereditary hemoglobin production defect
- G6PD deficiencyInherited enzyme defect in erythrocytes
- coagulationLiquid solidifying into mass
Hereditary enzyme deficiency disorder
- PKUInherited amino acid disorder
- newborn screeningMedical tests for infants
- dietary managementSupervised control of eating
Three chromosomes, not two
- karyotypeOrganized chromosome display
- mosaicismMixed genetic makeup
- translocationMovement to another place
- deletionRemoval of content
duplication · inversion · cytogenetics · sex chromosome · chromosomal abnormality
Third chromosome 21 present
- DiGeorge syndromeChromosomal microdeletion disorder
- syndromicRelating to syndrome patterns
Single nucleotide change in DNA
- frameshiftAltered reading of codons
- nonsenseMeaningless words or actions
- insertionPlacing something within
- deletionRemoval of content
gain of function · allele · nucleotide · base pair · monogenic · genotype · phenotype · haploinsufficiency
Genetic muscle-wasting condition
- BeckerGermanic occupational surname
- Charcot-Marie-ToothInherited motor-sensory neuropathy
- ataxiaImpaired voluntary movement control
- neurofibromatosisHereditary nerve tumor disorder
neurodegenerative · motor neuron · progressive weakness · muscle wasting · anticipation
inheritance
Property received from ancestors
- carrierOne that transports
- pedigreeRecord of descent
- family historyRecord of ancestors
risk assessment · heredity · consanguinity · penetrance · expressivity · heterozygous · homozygous · germline · newborn screening
sickle cell disease
Hereditary anemia with misshapen erythrocytes
- hemophiliaGenetic clotting impairment
- thalassemiaHereditary hemoglobin production defect
- G6PD deficiencyInherited enzyme defect in erythrocytes
Tay-Sachs disease
Hereditary enzyme deficiency disorder
- PKUInherited amino acid disorder
- newborn screeningMedical tests for infants
- dietary managementSupervised control of eating
trisomy
Three chromosomes, not two
- karyotypeOrganized chromosome display
- mosaicismMixed genetic makeup
- translocationMovement to another place
deletion · duplication · inversion · cytogenetics · sex chromosome · chromosomal abnormality
Down syndrome
Third chromosome 21 present
- DiGeorge syndromeChromosomal microdeletion disorder
- syndromicRelating to syndrome patterns
point mutation
Single nucleotide change in DNA
- frameshiftAltered reading of codons
- nonsenseMeaningless words or actions
- insertionPlacing something within
deletion · gain of function · allele · nucleotide · base pair · monogenic · genotype · phenotype · haploinsufficiency
muscular dystrophy
Genetic muscle-wasting condition
- BeckerGermanic occupational surname
- Charcot-Marie-ToothInherited motor-sensory neuropathy
- ataxiaImpaired voluntary movement control
neurofibromatosis · neurodegenerative · motor neuron · progressive weakness · muscle wasting · anticipation
- health risksobesity, diabetes, smoking, hypertension, air pollution
- heredityDNA, chromosomes, inheritance, traits, chromosome
- geneticsDNA, allele, genotype, chromosomes, chromosome
- dysfunctionserectile dysfunction, sexual dysfunction, thyroid dysfunction, organ failure, heart failure
- Developmental Disabilitiesintellectual disability, developmental delay, autism, autism spectrum, Down syndrome
- Disabilitiesblind, paralysis, vision loss, developmental disability, hearing impairment
genetic disorderinfectious disease
Pathogen-caused transmissible ailment
contagious disease · communicable disease · viral infection · bacterial infection · lifestyle disease
order, disorder, engineer, genes, disordered, genetic, engineering, genesis, gene