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    • Vertebral anomalies
    • Anus imperforate/Atresia
    • Cardiac anomalies
    • TracheoEsophageal fistula
    • Renal and/or Radial anomalies
    • Limb anomalies
  2. Mode of inheritance of Huntington's disease
    AD 4p
  3. Mode of inheritance of Adult Polycystic Kidney Disease
    AD 16p
  4. Mode of inheritance of Neurofibromatosis NF
    AD 17
  5. Mode of inheritance of Vestibular schwannoma NF2
    AD 22q
  6. Mode of inheritance of Protein C deficiency
    AD 2p
  7. Mode of inheritance of Myotonic dystrophy
    AD 19q
  8. Mode of inheritance of Familial retinoblastoma
    AD 13q
  9. Mode of inheritance of von Willebrand's disease
    AD 12
  10. Mode of inheritance of Tuberous sclerosis
    • AD 9 and 16
    • tuberin and hamartin genes
  11. Mode of inheritance of Marfan syndrome
    AD 15q
  12. Mode of inheritance of Achondroplasia
    • AD 4p
    • 80-90% new mutations
  13. Mode of inheritance of Hereditary spherocytosis
    AD spectin deficiency
  14. Mode of inheritance of Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease)
  15. Mode of inheritance of Peutz-Jeghers syndrome
    • AD
    • GI hamartomas
    • mucocutaneous pigment
  16. Mode of inheritance of PKU
    AR 12q
  17. Mode of inheritance of Sickle cell anemia
    AR 11
  18. Mode of inheritance of Congenital adrenal hyperplasia
    AR 6p
  19. Mode of inheritance of Cystic fibrosis
    AR 7q
  20. Mode of inheritance of Gaucher's disease
    AR 1q
  21. Mode of inheritance of Tay-Sachs disease
    • AR 15q
    • Ashkenazi Jews
  22. Mode of inheritance of Galactosemia
    AR 9p
  23. Mode of inheritance of Wilson's disease
    AR 13q
  24. Mode of inheritance of Fanconi's anemia
    • AR
    • chromosomal breakage
    • absent thumbs
  25. Mode of inheritance of Duchenne muscular dystrophy
    • X-linked recessive
    • dystrophin gene
  26. Mode of inheritance of Lesch-Nyhan syndrome
    • X-linked recessive
    • hypoxanthine-phosphoribosyl transferase
  27. Mode of inheritance of Ornithine transcarbamoylase OTC deficiency
    X-linked recessive
  28. Mode of inheritance of Hemophilia A and B
    X-linked recessive
  29. Mode of inheritance of Fragile X syndrome
    X-linked recessive
  30. Mode of inheritance of Chronic granulomatous disease
    • X-linked recessive
    • recurrent infections
  31. Mode of inheritance of G6PD deficiency
    • X-linked recessive
    • oxidant-induced hemolysis
    • 10% of AA males
  32. Mode of inheritance of Color blindness
    X-linked recessive
  33. Mode of inheritance of Leber's hereditary optic neuropathy
    • Mitochondrial
    • homoplasmic (cells contain only abnormal mtDNA)
  34. Mode of inheritance of NARP
    • Mitochondrial
    • Leigh's disease
    • Neuropathy, Ataxia, Retinitis Pigmentosa, developmental delay, mental retardation, lactic acidosis
    • heteroplasmic
  35. Mode of inheritance of MELAS
    • Mitochondrial
    • Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike episodes
    • may have DM
    • heteroplasmic
  36. Mode of inheritance of MERRF
    • Mitochondrial
    • Myoclonic Epilepsy Ragged Red Fibers
    • ataxia
    • sensorineural deafness
    • heteroplasmic
  37. Mode of inheritance of Kearns-Sayre syndrome
    • Mitochondrial
    • progressive external ophthalmoplegia, heart block, retinal pigmentation
    • heteroplasmic with sporadic mutations
  38. 15q 11-q13 father
    • Prader-Willi 
    • hypotonia, FTT in infancy
    • hyperphagia, small hands and feet
    • MR
    • hypogonadism
  39. 15q 11-q13 mother
    • Angelman's syndrome
    • absent speech
    • prominent mandible, wide mouth, widely spaced teeth, strabismus
    • microcephaly, seizures, MR, laughter, outbursts, ataxia
    • happy puppet
  40. SGA, narrow nose, hypoplastic nasal alae
    narrow bifrontal diameter
    short sternum
    congenital heart disease
    overlapping fingers
    rocker-bottom feet
    Trisomy 18
  41. postnatal growth retardation
    scalp defects
    cleft lip and palate
    congenital heart disease
    renal anomalies
    Trisomy 13
  42. no increased risk with maternal age
    short stature
    bicuspid aortic valve
    coarctation of the aorta
    lymphedema in infancy
    Turner's 45 XO
  43. many variants
    no signs in prepubertal boys
    postpubertal boys infertility, mild MR, gynecomastia, long limbs
    Klinefelter syndrome 47 XXYY
  44. long, tubular nose
    cleft palate, bifid uvula
    TOF, truncus, right/interrutped aortic arch, VSD, PDA
    mild MR
    absenct parathyroid, thymic hypoplasia
    immunodeficiency, T-cell defects
    neonatal hypocalcemia
    psychiatric disease, including bipolar, schiziphrenia
    • DeGeorge syndrome
    • 22q11.2, AD
    • Velocardiofacial syndrome
  45. microcephaly
    cat cry in the newborn period
    epicanthanl folds
    cardiac defect
    severe pychomotor retardation
    • Cri-du-Chat syndrome
    • deletion 5p
  46. short stature, periorbital fullness/puffy
    neonatal hypercalcemia
    stellate iris, antevered nares, thick lips, microdontia
    supravalvular aortic stenosis, bicuspid aorta
    pectus excavatum
    • Williams-Beuren syndrome
    • deletion 7q, AD
  47. brachycephaly, broad face
    hearing loss
    cardiac and renal abnormalities
    MR, behavioral abnormalitis, self-destructive
    sleep distrubances
    decreased pain sensation
    • Smith-Magenis syndrome
    • deletion 17p
  48. triangular face
    anterior chamber anomalies
    cholesatsis with intrahepatic duct deficiency
    vertebral anomalies
    mild MR
    hypercholesterolemia, hypertriglyceridemia, abnormal LFTs
    • Alagille syndrom
    • AD
    • jagged-1 gene 20p12 mutation
  49. CHARGE
    • Coloboma
    • Heart defect
    • Atresia choanae
    • Retarded growth/abnormal CNS development
    • Genital anomalies/hypogonadism
    • Ear anomalies/deafness
    • AD mutations CHD7
  50. frontal bossing, megalencephaly
    risk of foramen magnum stenosis
    recurrent OM
    conductive hearing loss
    • Achondroplasia
    • AD
    • mutation in fibroblast growth factor
    • 80% new mutations
  51. 4 types of OI and mode of inheritance
    • Type I blue sclerae, brittle bones
    • Type II lethal perinatal period
    • Type III progressive structural bone defects
    • Type IV normal sclerae, brittle bones, tooth anomalies
    • AD
    • protein type I collagen
  52. exophthalmos, macroglossia, hypoglycemia, macrosomia
    hemihypertrophy, cardiomegaly, renal abnormalities
    • Beckwith-Wiedemann syndrome
    • 11p15.5 duplication or deletion
    • uniparental disomy
  53. short stature, triangular face
    down-slanting palpebral fissures
    dental malocculusion
    webbed neck, low posterior hair line
    pulmonic stenosis
    shield chest, wide spaced nipples
    mild MR
    • Noonan syndrome
    • AD, one of four gene mutations
  54. microcephaly, long philtrum
    hearing loss
    synophrys, long, curly eyelashes
    wide spaced teeth
    limb abnormalities
    cutis marmorata, hirsutism
    • Cornelia de Lange syndrome
    • AD
    • mutation in nipped-B-like gene
  55. postnatal growth retardation
    beaked nose
    cardiac abnormalities
    broad thumbs with radial angulation, broad great toes
    increased risk of tumors, esp of head
    • Rubinstein-Taybi syndrome
    • AD
    • mutation in CREB-binding protein gene
  56. large cutaneous hemangiomata
    asymmetric limb hypertrophy
    Kasabach-Merritt syndrome
    Klippel-Trenaunay-Weber syndrome
  57. SGA lateral asymmetry and normal HC
    cardiac defects
    fifth-finger clinodactyly
    cafe au lait spots
    risk of neoplasm
    Russell-Silver syndrome
  58. short stature
    microcephaly, micrognathia
    ptosis, cataracts
    VSD, ASD, coarc
    syndactyly of the second and third toes
    MR, seizures, hypotonia
    low cholesterol
    • Smith-Lemli-Opitz syndrome
    • AR
  59. Lisch nodules
    optic glioma
    hypertension, renal artery stenosis
    cafe au lait spots, axillary freckling, plexiform neurofibromas
    learning disabilitiss
    increased risk of neoplams
    • Neurofibromatosis
    • AD
  60. achromatic retinal patches
    cardiac rhabdomyoma
    facial angiofibroma
    ash leaf macules, shagreen patch, subcutaneous nodules
    seizures, MR
    intracranial calcifications
    • Tuberous Sclerosis
    • AD
    • mutations in the hamartin gene or the tuberin gene
  61. famililial cancer syndrome
    4 types
    • von Hippel-Lindau syndrome
    • AD
  62. hemangiomata ophthalmic branch trigeminal
    Sturge Weber syndrome
  63. short stature, cutaneous telangiectasia
    cerebellar ataxia
    decreased or absent DTRs
    thymic hypoplasia
    hypersensitivity to ionizing radiation
    • Ataxia-Telangiectasia
    • AR
  64. urine smells of maple syrup
    burned sugar
    amino acid metabolism
    onset first 5-14 days of life of lethargy, coma, developmental delay
    measure plama leucine to diagnose
    treatment is dietary restriction of leucine, isoleucine, and valine
    • MSUD
    • AR
    • branched chain ketoaciduria
  65. urine smells of sweaty feet
    Isovaleric acidemia
  66. cat urine
    multiple carboxylase deficiency
  67. musty urine
    deficiency of phenylalanine hydroxylase in the liver
    severe MR if not treated
    blond hair, blue eyes, eczema
    • PKU
    • AR
  68. urine smells of rancid butter, rotten cabbage
  69. urine smells fishy
  70. liver dysfunction with hyperbilirubinemia
    coagulation problems
    renal tubular dysfunction
    females infertile
    increased association with e coli sepsis
    positive reducing substances
    elimination of dietary galactose is treament
    • galactosemia
    • AR
    • deficiency of galactos-1-phophate uridyltransferase
  71. marfanoid habitus
    dislocated lense
    AV thrombosis
    • Homocystinuria
    • AR
    • deficiency of cystathionine beta-synthetase
  72. 3 causes of hyperammonemia first 24 hours
    • Transient hyperammonemia of the newborn
    • Pyruvate dehydraogenase deficiency
    • Electron transport defects
  73. Causes of hyperammonemia >24 hours
    • With acidosis:
    • Organic acidemias:
    • methylmalonic acidemia MMA,
    • Proprionic acidemia PA
    • Without acidosis:
    • Urea cycle defects:
    • carbamoyl phosphate synthetase deficiency CPSD,
    • ornithine transcarbamoylas deficiency OTCD,
    • argininosuccinic acid lyase deficiency ALD
    • argininosuccinic acid synthetase deficiency ASD
  74. Causes of positive reducing substances
    • glucosuria (DM or renal tubular dysfunction)
    • galactosemia
    • fructosuria
    • alkaptonuria
    • drugs
  75. emesis, hypoglycemia, liver and kidney disease
    symptoms arise after introduction of regular food and fruit
    treatment is elimination of fructose and sucrose
    Hereditary frutose intolerence
  76. anion-gap metabolic acidosis
    hypo or hyperglycemia
    large ketones in urine
    mild to severe hyperammonemia
    restric amino acids, avoid protein
    carnitine is detoxifying
    • Organic acidurias
    • MMA methylmalonic acidemia
    • PPA propionic acidemia
    • IVA isovaleric acidemia
  77. defect in glycine cleavage
    profound deterioration of CNS in neonatal period
    seizures, lethargy, coma
    measure glycine in both plasma and CSF
    EEG show burst suppression pattern
    no treatment available
    • Nonketotic hyperglycinemia
    • AR
  78. 3 types and transient neonatal
    increased risk of hepatocellular carcinoma
    fulminant liver failure
    increased succinylacetone levels in plasma and urine
    give NTBC and limit phenylalanine and tyrosine
  79. fasting hypoketotic hypoglycemia
    fasting encephalopathy
    confirmed by plasma and urinary acylcarnitine profile
    long-term avoidance of fasting
    acute management with glucose infusion
    • Fatty Acid oxidaiton disorders
  80. macrocephaly, dystonia, enlarged subdural fluid spaces
    recurrent episodes of liver dysfunction with metabolic acidosis
    hyoglycemia, hyperammonemia
    Glutaric aciduria Type I
  81. defect in the transfer of electrons from flavine-adenin nucleotides
    associated with increased risk of cardiomyopathy
    renal cysts facial dysmorphism, rocker-bottom feet, hypospadias
    hypoglycemia without detosis
    sweath feet odor
    metabolic acidosis
    Glutaric Aciduria Type II
  82. cerebrohepatorena syndrome
    high forehead, flat orbital ridges, widely open fontanelles
    hepatomegaly, hypotonia, seizures, migration disorders of brain
    increased VLC fatty acids in plasma
    • Peroxisomal diseases
    • Zellweger syndrome
    • AR
    • others are Refsum, adrenoleukodystrophy, rhizomelic chondrodysplasia punctata
  83. glucose-6-phosphate deficiency
    liver, kidney, platelets, bones
    hypoglycemica, lactic acidosis
    doll-like face
    hypotonia, increased uric acid
    treat with cornstarch and frequent meals
    • Type I glycogen storage disease
    • von Gierke
  84. alpha-glucosidase (lysosomal) deficiency
    liver, skeletal muscle, cardiac muscle, peripheral nerves
    profound hypotonia, enlarged tongue, cardiomegaly with short PR
    enzyme replacement available, otherwise death in first year
    • Type II glycogen storage disease
    • Pompe
  85. debranching enzyme deficiency
    liver, skeletal and cardiac muscle
    hypoglycemia, ketosis
    no lactic acidosis
    normal uric acid
    muscle weakness
    • Type III glycogen storage disease
    • Forbes'
    • Cori's
  86. branching enzyme deficiency
    liver, skeletal and cardiac muscle, CNS
    FTT, liver cirrhosis, cardiomyopathy
    hypotonia, muscle weakness
    absent DTRs
    • Type IV glycogen storage disease
    • Andersen's disease
  87. muscle phosphorylase deficiency
    skeletal muscle
    exercise-induced rhabdomyolysis
    muscle weekness beginningin adolescence
    sucrose supplementation may be helpful 
    • Type V glycogen storage disease
    • McArdle's
  88. liver glycogen phosphoryase deficiency
    mild hypoglycemia and ketosis,
    • Type VI glycogen storage disease
    • Hers'
  89. Muscle phosphofructokinase deficiency
    skeletal muscle
    exercise induced rhabdomyolysis
    muscle weakness beginning in adolescence
    avoid strenuous exercise
    • Type VII glycogen storage disease
    • Tarui
  90. phosphoryase kinase deficiency
    hypoglycemia, ketosis
    no lactic acidosis
    normal uric acid
    good prognosis
    Type IX glycogen storage disease
  91. alpha-L-iduronidase deficiency
    coarse facies, cornieal clouding, neurodegeneration
    dysstosis multiplex
    abnormal glycosaminoglycans in urine
    • MPS I
    • Hurler
  92. iduronate-2-sulfatase deficiency
    mild dwarfism, coarse facial features
    no corneal opacities, hepatosplenomegaly
    dermatan and heparan sulfate in urine
    • MPS II
    • Hunter
    • X-linked recessive
  93. heparan N-sulfatase deficiency
    marked overactivity
    destructive tendancies
    sleep disturbances
    visceromegaly, mild corneal clouding
    claw hands
    heparan sulfate in urine
    • MPS III
    • Sanfilippo
  94. N-acetygalactosamine-6-sulfatase deficiency
    short trunked dwarfism
    mild coarse features
    corneal clouding
    restrcitive lung disease
    dysostosis multiplex
    normal intelligence
    chondroitin 6-sulfate and keratan sulfate in urine
    • MPS IV
    • Morquio
  95. N-acetylgalactomsamine-4-sulfatase deficiency
    short-trunked dwarfism
    corneal clouding,
    infantile cardiomyopathy
    dysostosis multiplex
    normal intelligence
    dermatan sulfate in urine
    • MPS VI
    • Maroteaux-Lamy
  96. beta-glucuronidase deficiency
    short stature
    MR, coarse facial features
    variable degree of corneal clouding
    anterior beaking of vertebrae
    coarse metachromatic granules in WBCs
    dermatan, heparan sulfate, chondroitin in urine
    • MPS VII
    • Sly
  97. glucocerebrosidase deficiency
    accumulation of Gaucher cells at the corneoscleral limbus
    osteolytic lesions
    anemia, thrombocytopenia
    increased risk of pathologic fractures
    enzyme replacement available
    • Type I lysosomal storage disease
    • Gaucher's
  98. sphingomyelinase deficiency
    more common Ashkenazi Jews
    hypotonia, hyperreflexia
    cherry-red spots
    FTT, loss of CNS function
    foam cells in multiple organs
    • Type A Niemann-Pick
    • lysosomal storage disease
  99. sphingomyelinase defiency
    most common among Ashkanazi Jews
    visceral form has no neurolgic manifestations
    hepatosplenomegaly and cherry-red spots , less common
    frequent respiratory infections
    large vacuolated foam cells on bone marrow biopsy
    increased LDH, trigs and decreased HDL
    • Type B Niemann-Pick
    • lysosomal storage disease
  100. intracellular accumulation of cholesterol
    highly variable phenotype
    vertical supranuclear gaze palsy
    developmental delay
    cerebellar ataxia
    Foam cells on bone marrow biopsy
    • Type C Niemann-Pick
    • lysosomal storage disease
  101. hexosaminidase A deficiency
    more common among Ashkenazi Jews and French Canadian
    infantile form is fatal by age five
    cherry-red spots and blindness
    increased startle response
    hyperacusis, hypotonia, poor head control
    GM1-ganglioside accumulation
    • GM2 gangliosidosis
    • Tay-Sachs disease
  102. arylsulfatase A deficiency
    variable age of onset
    adult onset may present as psychiatric illness
    optic atrophy
    biliary tract abnormalities
    hypotonia, seizures, loss of neuro function, progressive polyneuropathy
    increased protein in CSF
    decreased arysulfatase A activity in urine, WBCs and fibroblasts
    increased urinary sulfatide excretion
    Metachromatic leukodystrophy
  103. alpha-galactosidase deficiency
    delayed puberty
    carrier females affected variably
    whorl-like corneal dystrophy
    CAD and cardiomyopathy
    renal failure
    autonomic dysfunction, acroparesthesia, increased risk of stroke
    lipid laden macrophages in bone marrow
    • Fabry's disease
    • X-linked recessive
  104. beta-galactosidase deficiency
    four clinical forms--infantile, late infantile, juvenile, adult
    FTT, optic atrophy, blindness
    hyperirritability, mental deterioration, neurodegeneration, hypertonicity, seizures
    diffuse cerebral atrophy on CT and MRI
    decreased nerve conduction velocity
    increased protein in CSF
    Krabbe's disease
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2013-04-18 19:14:26
dewarsb Boardreview genetics

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