Autosomal Disorders Flashcards
Mutation in the FGFR3 gene (Fibroblast growth factor receptor 3)
Achondroplasia
Short limbs relative to trunk, prominent forehead, low nasal root, redundant skin
folds on arms and legs
Achondroplasia
Mutations in APOB (Apoliporotein B), LDLR (low-density lipoprotein receptor), and PCSK9 (proprotein convertase subtilisin/kexin type 9)
Hypercholesterolemia
Impaired uptake of LDL, elevated levels of LDL cholesterol, cardiovascular disease
and stroke. Symptoms more severe in homozygous individuals
Hypercholesterolemia
Mutation in the Sonic Hedgehog gene
Holoprosencephaly
Malformation of the brain (no or reduced evidence of an interhemispheric fissure),
dysmorphic facial features, mental retardation
Holoprosencephaly
Disorder is characterized by progressive motor, cognitive and psychiatric
abnormalities.
Huntington Disease
nonrepetitive involuntary jerks – is observed in 90% of patients
Chorea
Mutation in the Huntingtin (HD)
Huntington Disease
Mutation in the FBN1 gene (Fibrillin 1),
Marfan Syndrome
Abnormalities of the skeleton (disproportionate tall stature, scoliosis), heart (mitral
valve prolapse, aortic dilatation, dissection of the ascending aorta), pulmonary system, skin
(excessive elasticity), and joints (hypermobility). A frequent cause of death is congestive heart
failure.
Marfan Syndrome
Mutation in the DPMK gene
Myotonic Dystrophy
- Mutation in the NF1 gene (neurofibromin)
Neurofibromatosis
The disorder is characterized by numerous benign tumors of the
peripheral nervous system, but a minority of patients also show increased incidence of malignancy (neurofibrosarcoma, astrocytoma, Schwann cell cancers and childhood CML – chronic
myelogenous leukemia)
Neurofibromatosis
Null mutations produce a milder form of the disease. Missense mutations that act
in a dominant negative manner are often perinatal lethal. The disorders are associated with
deformed, undermineralized bones that are subject to frequent fracture
Osteogenesis Imperfecta
Mutations in COL1A1 (collagen type 1 alpha 1) and COL1A2 (collagen type 1 alpha 2),
Osteogenesis Imperfecta
Mutations in the PKD1 and PKD2 genes
Polycystic Kidney Disease
Dangerously high blood pressure (hypertension), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities.
Polycystic Kidney Disease
Mutation in the CFTR gene
Cystic Fibrosis
Pancreatic insufficiency due to fibrotic lesions, obstruction of lungs due to thick
mucus, lung infections
Cystic Fibrosis
A mutation in the GBA gene (glucocerebrosidase)
Gaucher’s disease
Lysosomal storage disease characterized by splenomegaly, hepatomegaly, and
bone marrow infiltration. Neurological symptoms are not common
Gaucher’s disease
Mutation in the HFE gene (homeostatic iron regulator)
Hemochromatosis
Behavioral difficulties, eczema, fairer skin, unpleasant odor in skin, breath, and urine. Mental retardation, if untreated, possibly due to inhibition of myelination and
disruption of neurotransmitter synthesis.
Phenylketonuria
Hypotonia, spasticity, seizures, blindness, death by age 2. An early indication is a
cherry red spot on the retina.
Tay-Sach’s Disease
Mutation in the HEXA gene
Tay-Sach’s Disease
Acute photosensitivity, premature skin aging, premalignant actinic keratoses, and
benign and malignant neoplasms of the skin, including basal cell carcinoma, squamous cell
carcinoma, or both
Xeroderma Pigmentosum
characterized by intracytoplasmic vacuoles containing autophagic material and glycogen in
cardiac and skeletal muscle cells in patients with cardiomyopathy and skeletal myopathy, with
or without conduction defect.
Danon disease
is associated with seizures and mental retardation. The condition is presumed to be lethal to
boys in utero because nearly 100% of cases are female. Also affects the skin
Incotinentia Pigmenti
caused by mutations in the LAMP2 gene.
Danon Disease
caused by mutations in the X-linked MECP2 gene.
Rett Syndrome
Loss of functional use of the hands, distinctive hand movements, slowed brain and head growth, seizures, intellectual disability.
Rett Syndrome
Disorder shows anticipation. Muscle weakness, cardiac arrhythmias, cataracts and
testicular atrophy in males. Weak muscle tone (hypotonia), upward and inward turning of the foot (clubfoot), breathing problems, delayed development, and intellectual disability.
Myotonic Dystrophy
Enhanced absorption of dietary iron with accumulation of abnormal, pigmented,
iron-protein aggregates (hemosiderin) in visceral organs.
Hemochromatosis
