Chapter 5 diseases Flashcards
Chronic lung disease secondary to recurrent infections, pancreatitis and insufficiency, malnutrition/ failure to thrive, intestinal obstruction, male infertility, typically presents in Caucasians, meconium ileus
Cystic Fibrosis
Autosomal Recessive
CFTR gene on 7q31.2
Mental retardation, hypopigmentation, musty-smelling urine, typically in Caucasians of Scandinavian descent
PKU
Autosomal Recessive
PAH (phenylalanine hydroxylase) deficency
Tall, long extremities, double jointed, dolicocephalic (long head), pectus excavatum, ectopia lentis (dislocated lens), mitral valve prolapse, aortic dissection
Marfan Syndrome Autosomal Dominant Defect in fibrillin (extracellular glycoprotein) FBN1 on 15q21.1 or FBN2 on 5q23.31
Stretchable, fragile skin, rupture of arteries or intenstines, ocular fragility, diaphragmatic hernia, hypermobility, joint dislocations,
Ehlers-Danlos Syndrome 3 types Classic (I/II): AD, COL5A1, COL5A2 Vascular (IV): AD, COL3A1 Kyphoscoliosis (VI): AR, Lysyl hydroxylase
Skin and joint hypermobility, atrophic scars, easy bruising
Ehlers-Danlos
Classic (I/II): AD, COL5A1, COL5A2
Thin skin, arterial or uterine rupture, bruising, small joint hyperextensibility, colon rupture
Ehlers-Danlos
Vascular (IV): AD, COL3A1
Hypotonia, joint laxity, congenital scoliosis, ocular fragility
Ehlers-Danlos
Kyphoscoliosis (VI): AR, Lysyl hydroxylase
Tendinous xanthomas (cholesterol deposits along tendons), atherosclerosis, elevated blood cholesterol, cholesterol deposits in eye, eyelid, or tendons
Familial Hypercholesterolemia
Autosomal dominant
mutation in LDL receptor
motor and mental deterioration at 6 months, blindness, dementia, death by age 3, Cherry red spot in macula, positive stains for oil red 0 and Sudan black B, common in eastern European Ashkenazic Jews
Tay-Sachs
lysosomal storage disease
deficiency in hexosaminidase A leads to accumulation of Gm2 gangliosidosis
Neurological deficits, splenomegaly, organomegaly, foamy cytoplasm, zebra bodies, cherry red spot in retina may be present, common in Ashkenazic Jews
Niemann-Pick disease
lysosomal storage disease
deficiency in sphingomyelinase on 11p15.4
Autosomal recessive
Type A: most severe, complete lack of enzyme
Type C: most common, progessive neurological damage
Accumulation of phagocytes, Splenomegaly, distended phagocytic cells in liver, spleen, bone marrow, immune system tissues, looks like crumpled tissue paper, Some types common in ashkenazic jews
Gaucher Disease
Autosomal recessive
mutation in glucocerebrosidase
lysosomal storage disease
Type I: most common, least lethal, no CNS involvement
Type II: most lethal, not jewish, infantile form
Type III: intermediate
Course facial features, corneal clouding, joint stiffness, mental retardation, hepatosplenomegaly, death by age 6-10 by MI, growth retardation, balloon cells, zebra bodies, depositions of ____ in cardiovascular system, spleen, liver
Hurler Mucopolysaccharidoses (MPS-IH) Autosomal recessive deficiency in Alpha-L-iduronidase (degrading glycosaminoglycans)
Slight Course facial features, NO corneal clouding, mild joint stiffness, mild mental retardation, balloon cells, zebra bodies, depositions of ____ in cardiovascular system, spleen, liver
Hunter Mucopolysaccharidoses (MPS-II) X-linked recessive deficiency in L-iduronosulfate sulfatase (degrading glycosaminoglycans)
Failure to thrive, hepatomegaly, renomegaly, hypoglycemia,
Von Gierke disease
G6P deficiency
X-linked recessive
Cardiomegaly, hepatosplenomegaly, muscle hypotonia, cardiorespiratory failure w/in 2 years, glycogen seen w/in sarcoplasm of cardiac muscle and skeletal muscle
Pompe disease
lysosomal glucosidase deficiency
AR
mental retardation, epicanthal folds, flat face, small ears, short broad hands, wide gap between toes, fissured tongue,
Down’s syndrome
Trisomy 21 from a robertsonian translocation
increased risk for leukemia, alzheimers, serious infections, Atrioventricular defects
mental retardation, micrognathia, short necks, low set ears, rocker bottom feet, overlapping fingers, prominent occiput, typically die at 18 months
Edwards’s syndrome
Trisomy 18
Mental retardation, microcephaly, polydactyly, cleft lip, rocker-bottom feet, umbilical hernia
Patau syndrome
Trisomy 13
Congenital heart defects, palata defects, facial dysmorphism, developmental delay, immunodeficiency, hypocalcemia
Chr 22q11.2 deletion syndrome
DiGeorge syndrome > CATCH 22, Cardiac abnormality, Abnormal face, Thymic hypoplasia, Cleft palate, Hypocalcemia/ hypoparathyroidism
Velocardiofacial syndrome > facial dysmorphism, cleft palate, cardiovascular anomalies, learning disabilities
47, XXY
male hypogonadism, long legs, gynecomastia, low IQ, increased risk of DM type 2, breast cancer, mitral valve prolapse
Klinefelter syndrome
45, X
hypogonadism, short, broad chest, webbing of neck, amenorrhea, lack of secondary sex characteristics, streak ovaries
Turner syndrome
long face, large everted ears, mental retardation, high arched palate, enlarged testicles, mitral valve prolapse
becomes worse with each generation
Fragile-X Syndrome
X-linked recessive
Trinucelotide repeat mutation in FMR1
progressive dementia, jerky movements,
Huntington disease
AD
trinucleotide repeat mutation
mutation of Huntingtin on 4p16.3
progressive bilateral loss of central vision
Leber optic neuropathy
mitochondrial DNA disorder
mental retardation, short stature, hypotonia, obesity, small hands/feet, hypogonadism
Prader-Willi syndrome
Paternal deletion on chromosome 15 q11.2q13
mental retardation, ataxic gait, siezures, inappropriate laughter, happy puppets
Angelman syndrome
Maternal deletion on chromosome 15 q11.2q13
